Melnick-Needles syndrome

Melnick-Needles syndrome is a rare genetic disorder of skeletal development, and the most severe member of the otopalatodigital spectrum disorders, which involve hearing loss from malformed ear ossicles, palate problems and abnormalities of the fingers and toes. People are usually short, with scoliosis, subluxed joints, unusually long fingers and toes, bowed limbs and thin, irregular ribs that can cause breathing trouble. Typical facial features include bulging eyes, prominent brow ridges, a very small lower jaw and sometimes facial asymmetry. Some have kidney-to-bladder duct obstruction or heart defects. It is caused by gain-of-function variants in the FLNA gene and is inherited in an X-linked dominant pattern, and males are generally far more severely affected than females, usually dying before or soon after birth. Fewer than 100 cases are reported.