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Otopalatodigital syndrome spectrum disorder

MedGen UID:
411701
•Concept ID:
C2748918
•
Disease or Syndrome
Synonym: Otopalatodigital spectrum disorder
SNOMED CT: Otopalatodigital syndrome spectrum disorder (784010006); OPD (otopalatodigital) spectrum disorder (784010006)
 
Monarch Initiative: MONDO:0018233
OMIM®: 300017; 311300
Orphanet: ORPHA364541

Definition

A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOtopalatodigital syndrome spectrum disorder

Professional guidelines

PubMed

Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management.
Abdolrahimzadeh S, Fameli V, Mollo R, Contestabile MT, Perdicchi A, Recupero SM
Biomed Res Int 2015;2015:781294. Epub 2015 Sep 16 doi: 10.1155/2015/781294. PMID: 26451378Free PMC Article

Recent clinical studies

Etiology

Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.
Roland-Billecart T, Schlund M, Lauwers L, Nicot R, Ferri J
J Craniofac Surg 2021 Nov-Dec 01;32(8):2823-2826. doi: 10.1097/SCS.0000000000007707. PMID: 34183625
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I
J Hum Genet 2016 Aug;61(8):693-9. Epub 2016 May 19 doi: 10.1038/jhg.2016.37. PMID: 27193221
Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management.
Abdolrahimzadeh S, Fameli V, Mollo R, Contestabile MT, Perdicchi A, Recupero SM
Biomed Res Int 2015;2015:781294. Epub 2015 Sep 16 doi: 10.1155/2015/781294. PMID: 26451378Free PMC Article
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
Robertson SP
Eur J Hum Genet 2007 Jan;15(1):3-9. Epub 2006 Aug 23 doi: 10.1038/sj.ejhg.5201654. PMID: 16926860
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.
Robertson SP, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V, Wilkie AO, Manouvrier-Hanu S
Eur J Hum Genet 2006 May;14(5):549-54. doi: 10.1038/sj.ejhg.5201586. PMID: 16538226

Diagnosis

Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1.
Yapijakis C, Vylliotis A, Angelopoulou A, Adamopoulou M, Chrousos GP, Voumvourakis C
Adv Exp Med Biol 2021;1339:319-323. doi: 10.1007/978-3-030-78787-5_38. PMID: 35023120
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I
J Hum Genet 2016 Aug;61(8):693-9. Epub 2016 May 19 doi: 10.1038/jhg.2016.37. PMID: 27193221
Fetal phenotypes in otopalatodigital spectrum disorders.
Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P
Clin Genet 2016 Mar;89(3):371-7. Epub 2015 Oct 29 doi: 10.1111/cge.12679. PMID: 26404489
Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management.
Abdolrahimzadeh S, Fameli V, Mollo R, Contestabile MT, Perdicchi A, Recupero SM
Biomed Res Int 2015;2015:781294. Epub 2015 Sep 16 doi: 10.1155/2015/781294. PMID: 26451378Free PMC Article
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
Robertson SP
Eur J Hum Genet 2007 Jan;15(1):3-9. Epub 2006 Aug 23 doi: 10.1038/sj.ejhg.5201654. PMID: 16926860

Prognosis

Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management.
Abdolrahimzadeh S, Fameli V, Mollo R, Contestabile MT, Perdicchi A, Recupero SM
Biomed Res Int 2015;2015:781294. Epub 2015 Sep 16 doi: 10.1155/2015/781294. PMID: 26451378Free PMC Article
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.
Santos HH, Garcia PP, Pereira L, Leão LL, Aguiar RA, Lana AM, Carvalho MR, Aguiar MJ
Am J Med Genet A 2010 Mar;152A(3):726-31. doi: 10.1002/ajmg.a.33260. PMID: 20186808
Okamoto syndrome in a girl of Caucasian origin.
Markouri M, Karpathios T, Dinopoulos A, Attilakos A, Fretzayas A, Bakoula C, Kitsiou-Tzeli S
Dev Med Child Neurol 2008 Dec;50(12):950-2. doi: 10.1111/j.1469-8749.2008.03147.x. PMID: 19046188
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI
Am J Med Genet A 2007 May 15;143A(10):1120-5. doi: 10.1002/ajmg.a.31696. PMID: 17431908

Clinical prediction guides

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.
Parrini E, Rivas IL, Toral JF, Pucatti D, Giglio S, Mei D, Guerrini R
Am J Med Genet A 2011 May;155A(5):1140-6. Epub 2011 Apr 11 doi: 10.1002/ajmg.a.33880. PMID: 21484998
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.
Clark AR, Sawyer GM, Robertson SP, Sutherland-Smith AJ
Hum Mol Genet 2009 Dec 15;18(24):4791-800. Epub 2009 Sep 22 doi: 10.1093/hmg/ddp442. PMID: 19773341
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI
Am J Med Genet A 2007 May 15;143A(10):1120-5. doi: 10.1002/ajmg.a.31696. PMID: 17431908
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group
Nat Genet 2003 Apr;33(4):487-91. Epub 2003 Mar 3 doi: 10.1038/ng1119. PMID: 12612583
Oto-palato-digital syndrome with features of type I and II in brothers.
Horn D, Nitz I, Bollmann R
Genet Couns 1995;6(3):233-40. PMID: 8588852

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