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Genetic and Rare Diseases Information Center (GARD)

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Melnick-Needles syndrome

Other Names for this Disease
  • Melnick-Needles osteodysplasty
  • MNS
  • Osteodysplasty of Melnick and Needles
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Your Question

I have been diagnosed with Melnick-Needles syndrome.  How can I learn more about this disease?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Melnick-Needles syndrome?

Melnick-Needles syndrome is a rare 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 typically 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.  This condition is caused by a mutation in the FLNA gene, and it has X-linked dominant inheritance.[1]
Last updated: 11/3/2010

What are the signs and symptoms of Melnick-Needles syndrome?

People with this condition usually have short stature, 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 females and in almost all cases die before or soon after birth.[1]

Last updated: 11/3/2010

What causes Melnick-Needles syndrome?

Melnick-Needles syndrome is caused by a change (mutation) in the FLNA gene. When the FLNA gene is working correctly, it provides instructions for producing a protein called filamin A, which is needed to help other proteins and to give structure to cells and allow them to change shape and move. When the FLNA gene has a mutation that causes Melnick-Needles syndrome, the mutation instructs the cell to enhance the activity of the filamin A protein or give the protein a new 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.[1]

Last updated: 11/3/2010

How is Melnick-Needles syndrome inherited?

This condition is inherited in an X-linked dominant pattern. This means that 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.  A female with this condition has a 50% chance of passing the X chromosome with the mutation to each of her children. In males (who have only one X chromosome and a Y chromosome), a mutation in the only copy of the gene in each cell causes the disorder. A male with this condition will always pass the X chromosome with the mutation to each of his daughters, but fathers cannot pass X-linked traits to their sons.[1]
Last updated: 11/3/2010

How is Melnick-Needles syndrome diagnosed?

Melnick-Needles syndrome, which falls within the otopalatodigital (OPD) spectrum disorders, can be made by a combination of clinical examination, radiologic studies (such as X-rays), family history consistent with X-linked inheritance, and genetic testing.[2]

Last updated: 11/3/2010

Is genetic testing available for Melnick-Needles syndrome?

GeneTests lists the names of laboratories that are performing genetic testing for Melnick-Needles syndrome.  To view the contact information for the clinical laboratories conducting testing, click here.  To access the contact information for the research laboratories performing genetic testing, click here.

Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a healthcare provider or a genetics professional. 
Last updated: 11/4/2010

How might Melnick-Needles syndrome be treated?

There is no cure for Melnick-Needles syndrome.  Treatment typically focuses on addressing the symptoms of the condition.

Last updated: 11/3/2010