Melnick-Needles syndrome is a rare genetic disease that currently affects fewer than 100 patients worldwide. The gene mutations that are characteristic of this disease cause abnormalities in skeletal development. The hallmark of Melnick-Needles syndrome is hearing loss in patients, caused by abnormal development and function of the ossicles, malformation of the palate, skeletal problems with a strong emphasis on problems in the fingers and toes. Melnick-Needles syndrome is classified as a genetic ear-palatal-finger disorder.

What causes Melnick-Needles syndrome

The main cause of Melnick-Needles syndrome is believed to be a mutation within the FLNA gene. The FLNA gene encodes a protein, flamin A, which is involved in the formation of the cytoskeleton. The cell cytoskeleton provides a 'rack' for cells, which is also used by cells for movement. Flamin A also plays an important role in muscle formation - it binds to actin, one of the most important proteins involved in muscle cell movement. In Melnick-Needles syndrome, the gene encoding flamin A is defective, resulting in the synthesis of a protein that has altered functions. In the case of the mutation that occurs in this disease entity, flamin A becomes hyper-reactive, thereby disrupting the normal function of the cytoskeleton.

Inheritance of the disease

The disease is inherited in a dominant manner, conjugated to the X chromosome. This means that a woman who is a carrier of a defective X gene, passing it on to her son, who has one Y chromosome, conditions him to develop the disease. Melnick-Needles syndrome is much more dangerous for men; many male children suffering from the FLNA gene mutation die shortly after birth.

Characteristics of patients suffering from Melnick-Needles syndrome

Mutations within the FLNA gene and effects on the cellular cytoskeleton are evident in the outward appearance of patients. Characteristic features of Melnick-Needles syndrome sufferers include exophthalmos, widely spaced eyes, uneven teeth, body asymmetry, short stature, scoliosis, joint problems, marked shortening of forearms, phalanges, unnaturally short neck, underdeveloped ribs, respiratory problems, ureteral stenosis, hearing impairment.

Diagnosis of Melnick-Needles syndrome and treatment options

Diagnosis of the disease is based on physical examination and the performance of radiological tests. An excellent diagnostic tool is prenatal diagnosis - amniocentesis or chorionic villus biopsy recommended especially for families with a history of genetic disease. The treatment of people with Melnick-Needles syndrome is based on the joint action of many specialists, in genetics, radiology, pulmonology, ENT, ophthalmology, physiotherapy, speech therapy. Providing appropriate, specialised care creates opportunities to improve the quality and length of life for patients suffering from Melnick-Needles syndrome.