What causes Melnick-Needles syndrome?

Melnick-Needles syndrome is caused by a change ( mutation ) in the FLNA gene . When the FLNA gene is working correctly, it provides instructions for producing a protein called filamin A, which is needed to help other proteins and to give structure to cells and allow them to change shape and move.

What is Melnick-Needles syndrome?

Melnick-Needles syndrome (MNS) is a genetic disorder of bone characterized by skeletal and cranio-facial abnormalities with a specific facial appearance. The skeletal abnormalities include bowing of long bones, s-curved leg bones, ribbon-like ribs and a hardening of the skull base, as well as spine deformities.

How many people have Melnick-Needles syndrome?

Melnick-Needles syndrome is a rare disorder; fewer than 100 cases have been reported worldwide.

What is Hajdu Cheney Syndrome?

Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition.

What is Carpenter’s syndrome?

Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly).

What is serpentine disease?

Exner syndrome, also known as serpentine fibula polycystic kidney syndrome, is a rare disorder, typified by the afflicted person having oddly formed, s-shaped fibulas as well as the development of numerous cysts in the kidneys.

What does Pycnodysostosis mean?

Pycnodysostosis is a rare genetic disorder characterized by distinctive facial features and skeletal malformations. Affected individuals may have osteosclerosis, a condition characterized by abnormal hardening and increased density of bone.

How common is osteopetrosis?

Autosomal dominant osteopetrosis is the most common form of the disorder, affecting about 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 in 250,000 people. Other forms of osteopetrosis are very rare.

What is Robinow syndrome?

Robinow syndrome is an extremely rare inherited disorder that affects development of the bones and other parts of the body. There are two forms of Robinow syndrome that are distinguished by signs and symptoms, severity, mode of inheritance, and the genes associated with them.

What is Laurence moon syndrome?

Laurence-Moon syndrome (LNMS) is a genetic condition that results in a complex association of problems that affect several different body parts. People with LNMS may have difficulties with functions of the brain, eyes, ears, stomach, kidneys, hands and feet.

What does Melorheostosis mean?

Melorheostosis is a rare and progressive disease characterized by thickening or widening (hyperostosis) of the outer layers of the bone (cortical bone). Melorheostosis affects both bone and soft tissue growth and development.

Who is most likely to get osteopetrosis?

Osteoporosis affects men and women of all races. But white and Asian women, especially older women who are past menopause, are at highest risk. Medications, healthy diet and weight-bearing exercise can help prevent bone loss or strengthen already weak bones.