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<span>Melnick-Needles syndrome</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/melnick-needles-syndrome/</span>
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<h1>Melnick-Needles syndrome</h1>
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<h2>Description</h2>
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<section><div class="mp-content"><p>Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes <a data-pid="14873" href="https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-1/">otopalatodigital syndrome type 1</a>, <a data-pid="14875" href="https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-2/">otopalatodigital syndrome type 2</a>, <a data-pid="14877" href="https://medlineplus.gov/genetics/condition/frontometaphyseal-dysplasia/">frontometaphyseal dysplasia</a>, and <a data-pid="24498" href="https://medlineplus.gov/genetics/condition/terminal-osseous-dysplasia/">terminal osseous dysplasia</a>. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (<a class="image-modal" data-alt="Basic anatomy of the ear, from the outer ear to the inner ear" data-caption="" data-credit="Blamb/Shutterstock.com" data-filepath="images/PX000170_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000170" data-sourceurl="" data-title="Anatomy of a normal ear" href="https://medlineplus.gov/images/PX000170_PRESENTATION.jpeg" id="PX000170_5" title="Show image">ossicles<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).</p><p>Melnick-Needles syndrome is usually the most severe of the otopalatodigital spectrum disorders. People with this condition are usually of short stature, have an abnormal curvature of the spine (<a class="image-modal" data-alt="Comparison of a normal spine, which is straight, with a spine with scoliosis, which curves side-to-side." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX0000T0_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000T0" data-sourceurl="" data-title="Normal spine and spine with scoliosis" href="https://medlineplus.gov/images/PX0000T0_PRESENTATION.jpeg" id="PX0000T0_6" title="Show image">scoliosis<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), partial dislocation (subluxation) of certain joints, and unusually <a class="image-modal" data-alt="Photograph of a person's hand with long fingers." data-caption="" data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0002AQ_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002AQ" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=41535e8ed3dc9076" data-title="Long fingers" href="https://medlineplus.gov/images/PX0002AQ_PRESENTATION.jpeg" id="PX0002AQ_7" title="Show image">long fingers<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and toes. They may have bowed limbs; underdeveloped, irregular ribs that can cause problems with breathing; and other abnormal or absent bones.</p><p>Characteristic facial features may include <a class="image-modal" data-alt="Photograph of the face of a person with prominent eyes." data-caption="Bilateral Proptosis." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001T8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001T8" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=765f49f1e824f0d2" data-title="Prominent eyes (proptosis)" href="https://medlineplus.gov/images/PX0001T8_PRESENTATION.jpeg" id="PX0001T8_8" title="Show image">bulging eyes<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> with prominent brow ridges, excess hair growth on the forehead, round cheeks, a very small lower jaw and chin (<a class="image-modal" data-alt="Photograph of the face of a person with micrognathia." data-caption="There is shortening and narrowing of the mandible and chin." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001LU_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001LU" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=8bbf61b4ad7ca2ef" data-title="Micrognathia" href="https://medlineplus.gov/images/PX0001LU_PRESENTATION.jpeg" id="PX0001LU_9" title="Show image">micrognathia<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), and misaligned teeth. One side of the face may appear noticeably different from the other (facial asymmetry). Some individuals with this disorder have hearing loss.</p><p>In addition to skeletal abnormalities, individuals with Melnick-Needles syndrome may have obstruction of the ducts between the kidneys and bladder (<a class="image-modal" data-alt="Anatomy of the male urinary system showing the kidneys, ureters, bladder, and urethra." data-caption="Anatomy of the male urinary system showing the kidneys, ureters, bladder, and urethra. Urine is made in the renal tubules and collects in the renal pelvis of each kidney. The urine flows from the kidneys through the ureters to the bladder. The urine is stored in the bladder until it leaves the body through the urethra." data-credit="© 2010 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001WE_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001WE" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9098" data-title="Male urinary system" href="https://medlineplus.gov/images/PX0001WE_PRESENTATION.jpeg" id="PX0001WE_10" title="Show image">ureters<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) or heart defects.</p><p>Males with Melnick-Needles syndrome generally have much more severe signs and symptoms than do females, and in almost all cases die before or soon after birth.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>Melnick-Needles syndrome is a rare disorder; fewer than 100 cases have been reported worldwide.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Variants (also called mutations) in the <em><a data-pid="17789" href="https://medlineplus.gov/genetics/gene/flna/">FLNA</a></em> gene cause Melnick-Needles syndrome.</p><p>The <em>FLNA</em> gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (<a class="image-modal" data-alt="The three fibers of the cytoskeleton: microtubules in blue, intermediate filaments in red, and actin in green." data-caption="The three fibers of the cytoskeleton--microtubules in blue, intermediate filaments in red, and actin in green--play countless roles in the cell." data-credit="Judith Stoffer" data-filepath="images/PX0000B4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000B4" data-sourceurl="https://images.nigms.nih.gov/Pages/DetailPage.aspx?imageID=66" data-title="Cytoskeleton with microtubules in blue, intermediate filaments in red, and actin in green" href="https://medlineplus.gov/images/PX0000B4_PRESENTATION.jpeg" id="PX0000B4_2" title="Show image">cytoskeleton<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, and helps the actin to form the branching network of filaments that make up the cytoskeleton. Filamin A also links actin to many other proteins to perform various functions within the cell.</p><p>A small number of variants in the <em>FLNA</em> gene have been identified in people with Melnick-Needles syndrome. These variants are described as "gain-of-function" because they appear to enhance the activity of the filamin A protein or give the protein a new, atypical function. Researchers believe that the variants may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of Melnick-Needles syndrome.</p></div>
|
||
</section>
|
||
|
||
<section>
|
||
|
||
<div class="related-genes mp-exp exp-full">
|
||
|
||
<h3>Learn more about the gene associated with Melnick-Needles syndrome</h3>
|
||
|
||
<ul class="relatedmp">
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/gene/flna/">FLNA</a></li>
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||
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||
</ul>
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||
</div>
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||
</section>
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||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="inheritance">
|
||
<h2>Inheritance</h2>
|
||
|
||
<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Inheritance of an X-linked dominant disorder depends on which parent is affected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009S_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009S" data-sourceurl="" data-title="X-linked dominant inheritance" href="https://medlineplus.gov/images/PX00009S_PRESENTATION.jpeg" id="PX00009S_1" title="Show image">X-linked dominant pattern<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. The gene associated with this condition is located on the X chromosome, which is one of the two <a class="image-modal" data-alt="Karyotype showing 22 autosomes and 2 sex chromsomes, either two X chromosomes or an X chromosome and a Y chromosome." data-caption="The X chromosome is one of two sex chromosomes. Humans and most mammals have two sex chromosomes, the X and Y. Females have two X chromosomes in their cells, while males have X and Y chromosomes in their cells. Egg cells all contain an X chromosome, while sperm cells contain an X or a Y chromosome. This arrangement means that during fertilization, it is the male that determines the sex of the offspring." data-credit="Darryl Leja, NHGRI" data-filepath="images/PX0000HO_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000HO" data-sourceurl="" data-title="Sex chromosomes (X and Y)" href="https://medlineplus.gov/images/PX0000HO_PRESENTATION.jpeg" id="PX0000HO_2" title="Show image">sex chromosomes<img alt="" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. In females (who have two X chromosomes), a variant in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a variant in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.</p></div>
|
||
</section>
|
||
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||
</div>
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||
<div class="mp-exp exp-full" data-bookmark="synonyms">
|
||
<h2>Other Names for This Condition</h2>
|
||
|
||
<section>
|
||
<ul class="bulletlist">
|
||
<li>Melnick-Needles osteodysplasty</li> <li>MNS</li> <li>Osteodysplasty of Melnick and Needles</li>
|
||
</ul>
|
||
</section>
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||
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</div>
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<div class="mp-exp exp-full" data-bookmark="resources">
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||
<h2>Additional Information & Resources</h2>
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||
<section>
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||
<div class="mp-content">
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||
|
||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0025237/" target="TheNewWin">Genetic Testing Registry: Melnick-Needles syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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||
</ul>
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||
</div>
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||
</section>
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||
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<section>
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||
<div class="mp-content">
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||
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||
<h2>Genetic and Rare Diseases Information Center</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.info.nih.gov/diseases/7011/index" target="TheNewWin">Melnick-Needles syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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||
|
||
</ul>
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||
</div>
|
||
</section>
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||
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||
<section>
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||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/309350" target="TheNewWin">MELNICK-NEEDLES SYNDROME; MNS</a></li>
|
||
|
||
</ul>
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||
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||
</div>
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||
</section>
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||
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||
<section>
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||
<div class="mp-content">
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||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Melnick-Needles+syndrome%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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</ul>
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</div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="references">
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||
<h2>References</h2>
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||
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||
<section>
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||
<div class="mp-content">
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||
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||
<ul>
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||
|
||
<li>Albano LMJ, Bertola DR, Barba MF, Valente M, Robertson SP, Kim CA. Phenotypic
|
||
overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney
|
||
syndromes: a clinical and molecular study in three patients. Clin Dysmorphol.
|
||
2007 Jan;16(1):27-33. doi: 10.1097/01.mcd.0000228418.74413.52. <a href="https://pubmed.ncbi.nlm.nih.gov/17159511" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Kristiansen M, Knudsen GP, Soyland A, Westvik J, Orstavik KH. Phenotypic
|
||
variation in Melnick-Needles syndrome is not reflected in X inactivation patterns
|
||
from blood or buccal smear. Am J Med Genet. 2002 Mar 1;108(2):120-7. doi:
|
||
10.1002/ajmg.10245. <a href="https://pubmed.ncbi.nlm.nih.gov/11857561" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Robertson S. X-Linked Otopalatodigital Spectrum Disorders. 2005 Nov 30
|
||
[updated 2019 Oct 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE,
|
||
Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University
|
||
of Washington, Seattle; 1993-2025. Available from
|
||
http://www.ncbi.nlm.nih.gov/books/NBK1393/
|
||
<a href="https://pubmed.ncbi.nlm.nih.gov/20301567" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>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. Localized mutations in the gene encoding the
|
||
cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet.
|
||
2003 Apr;33(4):487-91. doi: 10.1038/ng1119. Epub 2003 Mar 3. <a href="https://pubmed.ncbi.nlm.nih.gov/12612583" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Robertson SP. Otopalatodigital syndrome spectrum disorders: otopalatodigital
|
||
syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
|
||
Eur J Hum Genet. 2007 Jan;15(1):3-9. doi: 10.1038/sj.ejhg.5201654. Epub 2006 Aug
|
||
23. <a href="https://pubmed.ncbi.nlm.nih.gov/16926860" target="TheNewWin">Citation on PubMed</a></li>
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||
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||
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