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Melnick-Needles syndrome

Reviewed November 2007

What is Melnick-Needles syndrome?

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 otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and frontometaphyseal dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).

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 (scoliosis), partial dislocation (subluxation) of certain joints, and unusually long fingers and toes. They may have bowed limbs; underdeveloped, irregular ribs that can cause problems with breathing; and other abnormal or absent bones.

Characteristic facial features may include bulging eyes with prominent brow ridges, excess hair growth on the forehead, round cheeks, a very small lower jaw and chin (micrognathia), 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.

In addition to skeletal abnormalities, individuals with Melnick-Needles syndrome may have obstruction of the ducts between the kidneys and bladder (ureters) or heart defects.

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.

How common is Melnick-Needles syndrome?

Melnick-Needles syndrome is a rare disorder; fewer than 100 cases have been reported worldwide.

What genes are related to Melnick-Needles syndrome?

Mutations in the FLNA gene cause Melnick-Needles syndrome.

The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) 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.

A small number of mutations in the FLNA gene have been identified in people with Melnick-Needles syndrome. These mutations 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 mutations 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.

Related Gene(s)

Changes in this gene are associated with Melnick-Needles syndrome.

  • FLNA

How do people inherit Melnick-Needles syndrome?

This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation 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 mutation 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.

Where can I find information about diagnosis or management of Melnick-Needles syndrome?

These resources address the diagnosis or management of Melnick-Needles syndrome and may include treatment providers.

  • Gene Review: Otopalatodigital spectrum disorders (http://www.ncbi.nlm.nih.gov/books/NBK1393/)
  • Genetic Testing Registry: Melnick-Needles syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0025237)

You might also find information on the diagnosis or management of Melnick-Needles syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/melnick-needles-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/melnick-needles-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Melnick-Needles syndrome?

You may find the following resources about Melnick-Needles syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Melnick-Needles syndrome?

  • Melnick-Needles osteodysplasty
  • MNS
  • osteodysplasty of Melnick and Needles

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Melnick-Needles syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Melnick-Needles syndrome?

actin ; atypical ; bulging eyes ; cell ; chromosome ; cytoskeleton ; dislocation ; dysplasia ; gene ; inheritance ; micrognathia ; mutation ; obstruction ; palate ; protein ; scoliosis ; sex chromosomes ; short stature ; spectrum ; stature ; syndrome ; X-linked dominant

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Albano LM, 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. (http://www.ncbi.nlm.nih.gov/pubmed/17159511?dopt=Abstract)
  • Gene Review: Otopalatodigital spectrum disorders (http://www.ncbi.nlm.nih.gov/books/NBK1393/)
  • Kristiansen M, Knudsen GP, Søyland A, Westvik J, Ørstavik 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. (http://www.ncbi.nlm.nih.gov/pubmed/11857561?dopt=Abstract)
  • OMIM: MELNICK-NEEDLES SYNDROME (http://omim.org/entry/309350)
  • 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. Epub 2003 Mar 3. (http://www.ncbi.nlm.nih.gov/pubmed/12612583?dopt=Abstract)
  • 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. Epub 2006 Aug 23. (http://www.ncbi.nlm.nih.gov/pubmed/16926860?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2007
Published: July 7, 2014