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.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal cortical bone morphology||90%|
|Abnormality of the fontanelles or cranial sutures||90%|
|Abnormality of the metaphyses||90%|
|Prominent supraorbital ridges||90%|
|Abnormal form of the vertebral bodies||50%|
|Abnormality of the cardiac septa||50%|
|Abnormality of the clavicle||50%|
|Abnormality of the hip bone||50%|
|Abnormality of the metacarpal bones||50%|
|Abnormality of the ribs||50%|
|Recurrent respiratory infections||50%|
|Reduced number of teeth||50%|
|Short distal phalanx of finger||50%|
|Anterior concavity of thoracic vertebrae||-|
|Cone-shaped epiphyses of the phalanges of the hand||-|
|Delayed cranial suture closure||-|
|Delayed eruption of teeth||-|
|Failure to thrive||-|
|Limited elbow extension||-|
|Misalignment of teeth||-|
|Mitral valve prolapse||-|
|Obtuse angle of mandible||-|
|Osteolytic defects of the phalanges of the hand||-|
|Recurrent otitis media||-|
|Tricuspid valve prolapse||-|
|X-linked dominant inheritance||-|
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.
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.
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I have been diagnosed with Melnick-Needles syndrome. How can I learn more about this disease? See answer