Other Names for this Disease
- Melnick-Needles osteodysplasty
- Osteodysplasty of Melnick and Needles
What are the signs and symptoms of Melnick-Needles syndrome?
What causes Melnick-Needles syndrome?
How is Melnick-Needles syndrome inherited?
Is genetic testing available for Melnick-Needles syndrome?
How is Melnick-Needles syndrome diagnosed?
How might Melnick-Needles syndrome be treated?
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.
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.
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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.
- Melnick-Needles syndrome. Genetics Home Reference. November 2007; http://ghr.nlm.nih.gov/condition/melnick-needles-syndrome. Accessed 11/2/2010.
- Stephen Robertson. Otopalatodigital Spectrum Disorders. GeneTests. April 28, 2009; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=opd. Accessed 11/2/2010.