Melnick-Needles Syndrome also known as Osteodysplasia or Osteodysplasty is a rare genetic disorder affecting the female X chromosome. This condition can affect a number of bones in the body and diagnosis is usually by x-ray. The following list highlights some of the features of Melnick-Needles Syndrome, However signs and symptoms will vary in each child.
- FACE: High forehead, large eyes, small chin, prominent cheeks and malaligned teeth (not in line).
- SKULL: There is hardening of the bone at the base of the skull (sclerotic), The front fontanelle may be slow to close.
- SPINE: Scoliosis (sideways curvature) and kyphosis (forward curvature) of the spine may occur.
- CHEST: The rib cage may be small with the ribs distorted in shape. The clavicles (shoulder bones) may have a curved shape.
- PELVIS: Dislocation of the hip occasionally occurs. The curved bones forming the base of the pelvis and pubic bones may have offshoots of the bone (hypoplastic) making the opening to the pelvis narrow.
- LIMBS: The bones of the hands and feet are normal except from short thumbs and short big toes. There is a bowing of the long bones of the arms and legs.
- SPEECH: There may be problems with the development of speech.
- HEARING: Repeated ear infections are common, and may lead to problems with hearing.
- SIGHT: Problems with sight may occur.
- LUNGS: Recurrent chest infections can be a problem. In severe cases this can lead to pneumonia.
- URINARY TRACT: Recurrent urine infections may be a feature. Hydroneprosis (inflammation of the kidney due to a blockage in the ureter) is also a possibility.
- OTHER FEATURES: Mental development is not affected. There may be problems in later life with pregnancy because of deformity in the pelvis.