Detailed Information on Melnick-Needles Syndrome

Melnick-Needles Syndrome is a infrequent genetic disorder of the bones, but also affects the soft body tissue such as the kidneys and the renal tract. Melnick-Needles syndrome is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type’s 1 and 2, and frontometaphyseal dysplasia. In general, these disorders 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).

 People with this condition are frequently of short stature, have an abnormal curvature of the spine (scoliosis), partial dislocation 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. The typical facial features include prominent, protruding eyes, full cheeks, an extremely small lower jaw and a hairy forehead. The condition may affect many bones of the body causing deformity and in some cases short stature.

In addition to skeletal abnormalities, discrete with Melnick-Needles syndrome may have obstruction of the ducts between the kidneys and bladder (ureters) or heart defects. Patients may develop osteoarthritis of the back and/or hip in later years. The shape of the pelvis in females may make normal childbirth difficult. They may also be susceptible to respiratory infections. Height is not usually affected. Males with Melnick-Needles syndrome generally have much more severe signs and symptoms than do females and in almost all cases die before or soon after birth.

The condition in females is characterised by thickening or sclerosis of a number of bones in the body. This leads to deformity in the bones, particularly in the skull, pelvis and long bones of the arms and legs, in addition to short stature. Secondary osteoarthritis may occur. Other features may vary in the child but may include scoliosis, kyphosis (forward curvature), and small rib cage with the ribs distorted in shape and short thumbs and big toes. Ear and chest infections are common. Obstructive lesions of the ureters are common and deafness and cardiac abnormalities have occasionally been described. Mental development is not affected.