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<meta name="keywords" content="C1855669, absence of frontal sinuses, absent frontal sinus, absent frontal sinuses, aplasia of frontal sinus, aplasia sinus frontalis, finding, missing frontal sinus, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Aplasia of frontal sinus." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Absent frontal sinuses (Concept Id: C1855669)
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<!--
UID=343405
ConceptID=C1855669
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Absent frontal sinuses</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343405</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1855669</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Absence of frontal sinuses; Absent frontal sinus</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002688">HP:0002688</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Aplasia of frontal sinus. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Absent frontal sinuses</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892434" ref="tree=MeSH" title="MedGen record for Abnormal axial skeleton morphology">Abnormal axial skeleton morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870153" ref="tree=MeSH" title="MedGen record for Aplasia/hypoplasia affecting bones of the axial skeleton">Aplasia/hypoplasia affecting bones of the axial skeleton</a></span><ul><li><span class="TLline"><a href="/medgen/870158" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving bones of the skull">Aplasia/Hypoplasia involving bones of the skull</a></span><ul><li><span class="TLline"><a href="/medgen/870154" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving the sinuses">Aplasia/Hypoplasia involving the sinuses</a></span><ul><li><span class="TLline"><a href="/medgen/870155" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the frontal sinuses">Aplasia/Hypoplasia of the frontal sinuses</a></span><ul><li><span class="matched_ds">Absent frontal sinuses</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_3486"><div><strong>Cleidocranial dysostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3486</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0008928</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities), to mild CCD, to isolated dental anomalies without other skeletal features. Individuals with classic CCD spectrum disorder typically have abnormally large, wide-open fontanelles at birth that may remain open throughout life. Clavicular hypoplasia can result in narrow, sloping shoulders that can be opposed at the midline. Moderate short stature may be observed, with most affected individuals being shorter than their unaffected sibs. Dental anomalies may include delayed eruption of secondary dentition, failure to shed the primary teeth, and supernumerary teeth. Individuals with CCD spectrum disorder are at increased risk of developing recurrent sinus infections, recurrent ear infections leading to conductive hearing loss, and upper airway obstruction. Intelligence is typically normal.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3486">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_116061"><div><strong>Pyknodysostosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116061</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0238402</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Pycnodysostosis is characterized by short-limbed short stature, typical facial appearance (convex nasal ridge and small jaw with obtuse mandibular angle), osteosclerosis with increased bone fragility, acroosteolysis of the distal phalanges, delayed closure of the cranial sutures, and dysplasia of the clavicle. In affected individuals, the facial features become more prominent with age, likely due to progressive acroosteolysis of the facial bones, but can usually be appreciated from early childhood, particularly the small jaw and convex nasal ridge. Additional features include dental and nail anomalies. Intelligence is typically normal with mild psychomotor difficulties reported in some individuals.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/116061">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_82694"><div><strong>Marshall syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82694</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0265235</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Marshall syndrome (MRSHS) is characterized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In contrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by Shanske et al., 1997 and Ala-Kokko and Shanske, 2009).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82694">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_78542"><div><strong>Oto-palato-digital syndrome, type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78542</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0265251</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/78542">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_98150"><div><strong>Dysosteosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98150</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0432262</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98150">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_99347"><div><strong>Mulibrey nanism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99347</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0524582</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/99347">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_182961"><div><strong>Hajdu-Cheney syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>182961</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0917715</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hajdu-Cheney syndrome (HJCYS) is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/182961">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_331860"><div><strong>Microcornea-glaucoma-absent frontal sinuses syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331860</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1834935</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/331860">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_337145"><div><strong>Alpha thalassemia-X-linked intellectual disability syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337145</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1845055</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short triangular nose, tented upper lip, and thick or everted lower lip with coarsening of the facial features over time. While all affected individuals have a normal 46,XY karyotype, genital anomalies comprise a range from hypospadias and undescended testicles, to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Alpha-thalassemia, observed in about 75% of affected individuals, is mild and typically does not require treatment. Osteosarcoma has been reported in a few males with germline pathogenic variants.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/337145">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_923943"><div><strong>Frontometaphyseal dysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>923943</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4281559</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/923943">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1646059"><div><strong>Kartagener syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646059</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551906</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003).&#13; Genetic Heterogeneity of Primary Ciliary Dyskinesia&#13; Other forms of primary ciliary dyskinesia include CILD2 (606763), caused by mutation in the DNAAF3 gene (614566) on 19q13; CILD3 (608644), caused by mutation in the DNAH5 gene (603335) on 5p15; CILD4 (608646), mapped to 15q13; CILD5 (608647), caused by mutation in the HYDIN gene (610812) on 16q22; CILD6 (610852), caused by mutation in the TXNDC3 gene (607421) on 7p14; CILD7 (611884), caused by mutation in the DNAH11 gene (603339) on 7p15; CILD8 (612274), mapped to 15q24-q25; CILD9 (612444), caused by mutation in the DNAI2 gene (605483) on 17q25; CILD10 (612518), caused by mutation in the DNAAF2 gene (612517) on 14q21; CILD11 (612649), caused by mutation in the RSPH4A gene (612647) on 6q22; CILD12 (612650), caused by mutation in the RSPH9 gene (612648) on 6p21; CILD13 (613193), caused by mutation in the DNAAF1 gene (613190) on 16q24; CILD14 (613807), caused by mutation in the CCDC39 gene (613798) gene on 3q26; CILD15 (613808), caused by mutation in the CCDC40 gene (613799) on 17q25; CILD16 (614017), caused by mutation in the DNAL1 gene (610062) on 14q24; CILD17 (614679), caused by mutation in the DNAAF19 gene (614677) on 17q21; CILD18 (614874), caused by mutation in the DNAAF5 gene (614864) on 7p22; CILD19 (614935), caused by mutation in the DNAAF11 gene (614930) on 8q24; CILD20 (615067), caused by mutation in the CCDC114 gene (615038) on 19q13; CILD21 (615294), caused by mutation in the DRC1 gene (615288) on 2p23; CILD22 (615444), caused by mutation in the ZMYND10 gene (607070) on 3p21; CILD23 (615451), caused by mutation in the ARMC4 gene (615408) on 10p; CILD24 (615481), caused by mutation in the RSPH1 gene (609314) on 21q22; CILD25 (615482), caused by mutation in the DYX1C1 gene (608706) on 15q21; CILD26 (615500), caused by mutation in the C21ORF59 gene (615494) on 21q22; CILD27 (615504), caused by mutation in the CCDC65 gene (611088) on 12q13; CILD28 (615505), caused by mutation in the SPAG1 gene (603395) on 8q22; CILD29 (615872), caused by mutation in the CCNO gene (607752) on 5q11; CILD30 (616037), caused by mutation in the CCDC151 gene (615956) on 19p13; CILD32 (616481), caused by mutation in the RSPH3 gene (615876) on 6q25; CILD33 (616726), caused by mutation in the GAS8 gene (605178) on 16q24; CILD34 (617091), caused by mutation in the DNAJB13 gene (610263) on 11q13; CILD35 (617092), caused by mutation in the TTC25 gene (617095) on 17q21; CILD36 (300991), caused by mutation in the DNAAF6 gene (300933) on Xq22; CILD37 (617577), caused by mutation in the DNAH1 gene (603332) on 3p21; CILD38 (618063), caused by mutation in the CFAP300 gene (618058) on 11q22; CILD39 (618254), caused by mutation in the LRRC56 gene (618227) on 11p15; CILD40 (618300), caused by mutation in the DNAH9 gene (603330) on 17p12; CILD41 (618449), caused by mutation in the GAS2L2 gene (611398) on 17q12; CILD42 (618695), caused by mutation in the MCIDAS gene (614086) on 5q11; CILD43 (618699), caused by mutation in the FOXJ1 gene (602291) on 17q25; CILD44 (618781), caused by mutation in the NEK10 gene (618726) on 3p24; CILD45 (618801), caused by mutation in the TTC12 gene (610732) on 11q23; CILD46 (619436), caused by mutation in the STK36 gene (607652) on 2q35; CILD47 (619466), caused by mutation in the TP73 gene (601990) on 1p36; CILD48 (620032), caused by mutation in the NME5 gene (603575) on chromosome 5q31; CILD49 (620197), caused by mutation in the CFAP74 gene (620187) on chromosome 1p36; CILD50 (620356), caused by mutation in the DNAH7 gene (610061) on chromosome 2q32; CILD51 (620438), caused by mutation in the BRWD1 gene (617824) on chromosome 21q22; CILD52 (620570), caused by mutation in the DAW1 gene (620279) on chromosome 2q36; and CILD53 (620642), caused by mutation in the CLXN gene (619564) on chromosome 8q11.&#13; Ciliary abnormalities have also been reported in association with both X-linked and autosomal forms of retinitis pigmentosa. Mutations in the RPGR gene (312610), which underlie X-linked retinitis pigmentosa (RP3; 300029), are in some instances (e.g., 312610.0016) associated with recurrent respiratory infections indistinguishable from immotile cilia syndrome; see 300455.&#13; Afzelius (1979) gave an extensive review of cilia and their disorders. There are also several possibly distinct CILDs described based on the electron microscopic appearance of abnormal cilia, including CILD with transposition of the microtubules (215520), CILD with excessively long cilia (242680), and CILD with defective radial spokes (242670).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1646059">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_337145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alpha thalassemia-X-linked intellectual disability syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_3486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleidocranial dysostosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98150" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysosteosclerosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_923943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frontometaphyseal dysplasia 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_182961" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hajdu-Cheney syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646059" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kartagener syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marshall syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331860" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcornea-glaucoma-absent frontal sinuses syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_99347" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mulibrey nanism syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78542" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oto-palato-digital syndrome, type I</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_116061" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pyknodysostosis</a></div></span></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/37133486">Frontal sinus hypoplasia in unoperated older patients with craniosynostosis: a pilot study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pandey SK,
Kalmar CL,
Bonfield CM,
Golinko MS</span><br />
<span class="medgenPMjournal">Childs Nerv Syst</span>
2023 Aug;39(8):2139-2146.
Epub 2023 May 3
doi: 10.1007/s00381-023-05927-y.
<span class="bold">PMID: </span><a href="/pubmed/37133486" target="_blank">37133486</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32909287">Saethre-Chotzen syndrome: long-term outcome of a syndrome-specific management protocol.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Den Ottelander BK,
Van Veelen MC,
De Goederen R,
Van De Beeten SD,
Dremmen MH,
Loudon SE,
Versnel SL,
Van Den Ouweland AM,
Van Dooren MF,
Joosten KF,
Mathijssen IM</span><br />
<span class="medgenPMjournal">Dev Med Child Neurol</span>
2021 Jan;63(1):104-110.
Epub 2020 Sep 9
doi: 10.1111/dmcn.14670.
<span class="bold">PMID: </span><a href="/pubmed/32909287" target="_blank">32909287</a><a href="/pmc/articles/PMC7754116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32694479">Secondary Rhinoplasty in Binder Syndrome: Considerations and Management of Complex Problem With Heterologous Bone Graft.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barbera G,
Raponi I,
Nocini R,
Della Monaca M,
Priore P,
Valentini V</span><br />
<span class="medgenPMjournal">J Craniofac Surg</span>
2021 Jan-Feb 01;32(1):e5-e8.
doi: 10.1097/SCS.0000000000006789.
<span class="bold">PMID: </span><a href="/pubmed/32694479" target="_blank">32694479</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32646233">Predicting Odontogenic Sinusitis in Unilateral Sinus Disease: A Prospective, Multivariate Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goyal VK,
Ahmad A,
Turfe Z,
Peterson EI,
Craig JR</span><br />
<span class="medgenPMjournal">Am J Rhinol Allergy</span>
2021 Mar;35(2):164-171.
Epub 2020 Jul 9
doi: 10.1177/1945892420941702.
<span class="bold">PMID: </span><a href="/pubmed/32646233" target="_blank">32646233</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32049902">The Effect of Fronto-Orbital Advancement on Frontal Sinus Development and Function in Non-Syndromic and Syndromic Craniosynostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Deraje V,
Jirapinyo C,
Taranath A,
Anderson PJ,
Moore MH</span><br />
<span class="medgenPMjournal">J Craniofac Surg</span>
2020 May/Jun;31(3):707-710.
doi: 10.1097/SCS.0000000000006232.
<span class="bold">PMID: </span><a href="/pubmed/32049902" target="_blank">32049902</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20frontal%20sinuses%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (16)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32646233">Predicting Odontogenic Sinusitis in Unilateral Sinus Disease: A Prospective, Multivariate Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goyal VK,
Ahmad A,
Turfe Z,
Peterson EI,
Craig JR</span><br />
<span class="medgenPMjournal">Am J Rhinol Allergy</span>
2021 Mar;35(2):164-171.
Epub 2020 Jul 9
doi: 10.1177/1945892420941702.
<span class="bold">PMID: </span><a href="/pubmed/32646233" target="_blank">32646233</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29695393">Not quite Pott's puffy tumour.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Misirovs R,
Gohil R,
Ross P,
Manickavasagam J</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2018 Apr 25;2018
doi: 10.1136/bcr-2018-224463.
<span class="bold">PMID: </span><a href="/pubmed/29695393" target="_blank">29695393</a><a href="/pmc/articles/PMC5926574" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22469602">Non-invasive diagnostics of the maxillary and frontal sinuses based on diode laser gas spectroscopy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lewander M,
Lindberg S,
Svensson T,
Siemund R,
Svanberg K,
Svanberg S</span><br />
<span class="medgenPMjournal">Rhinology</span>
2012 Mar;50(1):26-32.
doi: 10.4193/Rhino10.231.
<span class="bold">PMID: </span><a href="/pubmed/22469602" target="_blank">22469602</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1517468">Aspergilloma in the frontal sinus expanding into the orbit.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Swoboda H,
Ullrich R</span><br />
<span class="medgenPMjournal">J Clin Pathol</span>
1992 Jul;45(7):629-30.
doi: 10.1136/jcp.45.7.629.
<span class="bold">PMID: </span><a href="/pubmed/1517468" target="_blank">1517468</a><a href="/pmc/articles/PMC495196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7236466">Electrophysiological factors of left bundle-branch block.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barrett PA,
Yamaguchi I,
Jordan JL,
Mandel WJ</span><br />
<span class="medgenPMjournal">Br Heart J</span>
1981 May;45(5):594-601.
doi: 10.1136/hrt.45.5.594.
<span class="bold">PMID: </span><a href="/pubmed/7236466" target="_blank">7236466</a><a href="/pmc/articles/PMC482570" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20frontal%20sinuses%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (17)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/32248673">A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Verma V,
Singh RK</span><br />
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
2020 Nov 25;12(4):444-449.
Epub 2020 Apr 6
doi: 10.4274/jcrpe.galenos.2020.2019.0194.
<span class="bold">PMID: </span><a href="/pubmed/32248673" target="_blank">32248673</a><a href="/pmc/articles/PMC7711642" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29695393">Not quite Pott's puffy tumour.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Misirovs R,
Gohil R,
Ross P,
Manickavasagam J</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2018 Apr 25;2018
doi: 10.1136/bcr-2018-224463.
<span class="bold">PMID: </span><a href="/pubmed/29695393" target="_blank">29695393</a><a href="/pmc/articles/PMC5926574" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29342460">Role of the Frontal Sinus in Mediating Ocular Vestibular-Evoked Myogenic Potentials by Bone Vibration Stimuli Applied to the Forehead.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lin KY,
Yeh TH,
Jaw FS,
Young YH</span><br />
<span class="medgenPMjournal">Audiol Neurootol</span>
2017;22(4-5):272-281.
Epub 2018 Jan 18
doi: 10.1159/000485311.
<span class="bold">PMID: </span><a href="/pubmed/29342460" target="_blank">29342460</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20frontal%20sinuses%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32646233">Predicting Odontogenic Sinusitis in Unilateral Sinus Disease: A Prospective, Multivariate Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goyal VK,
Ahmad A,
Turfe Z,
Peterson EI,
Craig JR</span><br />
<span class="medgenPMjournal">Am J Rhinol Allergy</span>
2021 Mar;35(2):164-171.
Epub 2020 Jul 9
doi: 10.1177/1945892420941702.
<span class="bold">PMID: </span><a href="/pubmed/32646233" target="_blank">32646233</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32248673">A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Verma V,
Singh RK</span><br />
<span class="medgenPMjournal">J Clin Res Pediatr Endocrinol</span>
2020 Nov 25;12(4):444-449.
Epub 2020 Apr 6
doi: 10.4274/jcrpe.galenos.2020.2019.0194.
<span class="bold">PMID: </span><a href="/pubmed/32248673" target="_blank">32248673</a><a href="/pmc/articles/PMC7711642" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29044800">Anatomical variations of the frontal sinus and its relationship with the orbital cavity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Štoković N,
Trkulja V,
Čuković-Bagić I,
Lauc T,
Grgurević L</span><br />
<span class="medgenPMjournal">Clin Anat</span>
2018 May;31(4):576-582.
Epub 2017 Oct 30
doi: 10.1002/ca.22999.
<span class="bold">PMID: </span><a href="/pubmed/29044800" target="_blank">29044800</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28624428">Undifferentiated sarcoma of the sphenoid sinus.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nagaishi M,
Suzuki K,
Sugiura Y,
Takano I,
Tanaka Y,
Hyodo A</span><br />
<span class="medgenPMjournal">Auris Nasus Larynx</span>
2018 Apr;45(2):388-391.
Epub 2017 Jun 16
doi: 10.1016/j.anl.2017.05.018.
<span class="bold">PMID: </span><a href="/pubmed/28624428" target="_blank">28624428</a></div>
<div class="nl"><a target="_blank" href="/pubmed/5781804">Hereditary microcornea, glaucoma, and absent frontal sinuses: a family study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Holmes LB,
Walton DS</span><br />
<span class="medgenPMjournal">J Pediatr</span>
1969 Jun;74(6):968-72.
doi: 10.1016/s0022-3476(69)80236-2.
<span class="bold">PMID: </span><a href="/pubmed/5781804" target="_blank">5781804</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20frontal%20sinuses%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35772582">Quantitative susceptibility-weighted imaging in presence of strong susceptibility sources: Application to hemorrhage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">De A,
Sun H,
Emery DJ,
Butcher KS,
Wilman AH</span><br />
<span class="medgenPMjournal">Magn Reson Imaging</span>
2022 Oct;92:224-231.
Epub 2022 Jun 27
doi: 10.1016/j.mri.2022.06.010.
<span class="bold">PMID: </span><a href="/pubmed/35772582" target="_blank">35772582</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32646233">Predicting Odontogenic Sinusitis in Unilateral Sinus Disease: A Prospective, Multivariate Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goyal VK,
Ahmad A,
Turfe Z,
Peterson EI,
Craig JR</span><br />
<span class="medgenPMjournal">Am J Rhinol Allergy</span>
2021 Mar;35(2):164-171.
Epub 2020 Jul 9
doi: 10.1177/1945892420941702.
<span class="bold">PMID: </span><a href="/pubmed/32646233" target="_blank">32646233</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29044800">Anatomical variations of the frontal sinus and its relationship with the orbital cavity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Štoković N,
Trkulja V,
Čuković-Bagić I,
Lauc T,
Grgurević L</span><br />
<span class="medgenPMjournal">Clin Anat</span>
2018 May;31(4):576-582.
Epub 2017 Oct 30
doi: 10.1002/ca.22999.
<span class="bold">PMID: </span><a href="/pubmed/29044800" target="_blank">29044800</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22736936">RAX and anophthalmia in humans: evidence of brain anomalies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abouzeid H,
Youssef MA,
Bayoumi N,
ElShakankiri N,
Marzouk I,
Hauser P,
Schorderet DF</span><br />
<span class="medgenPMjournal">Mol Vis</span>
2012;18:1449-56.
Epub 2012 Jun 2
<span class="bold">PMID: </span><a href="/pubmed/22736936" target="_blank">22736936</a><a href="/pmc/articles/PMC3380941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14990912">Incidental paranasal sinus imaging abnormalities and the normal Lund score in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hill M,
Bhattacharyya N,
Hall TR,
Lufkin R,
Shapiro NL</span><br />
<span class="medgenPMjournal">Otolaryngol Head Neck Surg</span>
2004 Feb;130(2):171-5.
doi: 10.1016/j.otohns.2003.11.006.
<span class="bold">PMID: </span><a href="/pubmed/14990912" target="_blank">14990912</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Absent%20frontal%20sinuses%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div></div>
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