Popliteal pterygium syndrome 1 (PPS1) is a rare, inherited condition that affects how parts of the face, skin, limbs, and genitals form before birth. Children are often born with a web of tight skin ...
Omodysplasia is a very rare genetic bone growth disorder. It mainly affects the long bones of the arms and sometimes the legs. People have short upper limbs, especially the upper arm bone (humerus). ...
Autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6 is a rare, inherited muscle disease. It mostly weakens the “girdle” muscles around the hips and shoulders over many ...
Onychodystrophy means any long-lasting change in the normal look, structure, or growth of a fingernail or toenail. The nail may become thick or thin, rough or brittle, ridged or split, discolored ...
Autosomal dominant cerebellar ataxia (ADCA) is a family of inherited brain conditions where the cerebellum—the part that coordinates balance, speech, and precise movement—slowly degenerates over ...
Centronuclear myopathy is a rare, inherited group of muscle diseases. In CNM, many muscle fibers show their nucleus in the center instead of the edge when a small piece of muscle is looked at under a ...
Hamman’s syndrome—also called Macklin’s syndrome—happens when tiny air sacs in the lungs (alveoli) tear from pressure, letting air track along the bronchial and blood-vessel coverings into the middle ...
Arthrogryposis-severe scoliosis syndrome is a rare, inherited condition in which a baby is born with stiff, contracted joints in the arms and legs (arthrogryposis) and also develops curvature of the ...
Freeman–Sheldon syndrome is a rare, congenital condition marked by tight muscles and tendons (contractures) that mainly affect the face, hands, and feet. Common facial features include a very small ...
Arthromyodysplasia congenita is an older name that doctors used in the 1950s for a condition seen at birth in which several joints are stuck or very stiff and the nearby muscles look small or weak. ...
Congenital muscular dystrophy producing arthrogryposis describes babies born with a primary muscle disease (congenital muscular dystrophy, CMD) who also have multiple stiff joints (arthrogryposis). ...
Arthrogryposis means a baby is born with more than one stiff joint (a “contracture”) that can’t move through a normal range. When the root cause of those contractures is a muscular dystrophy—a ...
Aphalangia means a baby is born without one or more phalanges, the small bones that make up the fingers and toes. It can involve one digit or several, and the missing bones may be at the tip ...
Trapezoidocephaly-synostosis syndrome is a rare genetic condition that affects how a baby’s skull and bones grow before birth. In this condition, one or more skull seams (called sutures) close too ...
Antecubital pterygium syndrome is a rare, usually inherited condition in which a tight web of skin and fibrous tissue grows across the front of the elbow (“antecubital fossa”), making it hard (or ...
Aniridia-absent patella syndrome is an extremely rare, inherited condition. It links two main findings: aniridia (little or no iris in the eyes) and aplasia or hypoplasia of the patella (kneecaps ...
