Melnick-Needles syndrome

Disease Overview

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 and males with this condition generally have more severe signs and symptoms than females. In almost all instances, males with Melnick-Needles syndrome die before or soon after birth. The signs and symptoms of this condition may include: short stature, various skeletal abnormalities, characteristic facial features, and abnormalities of the heart and/or kidneys. This condition is caused by mutations in the FLNA gene, and it is inherited in an X-linked dominant manner. Although there is no specific treatment or cure for Melnick-Needles syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person.[2668][13031][13058]

Synonyms

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