Melnick-Needles syndrome

Overview

This rare genetic syndrome is best described in females, with a small number of severely affected males also reported.

Symptoms

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, especially 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), 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.

Causes

* Coxa valga * Full cheeks * Knock-knee * Kyphoscoliosis * Prominent forehead * Protruding eyeballs * Small face * Small lower jaw * Sunken chest * Widely spaced eyes