Acrofacial dysostosis, Rodriguez type is a rare genetic disorder characterized by facial abnormalities, skeletal malformations, and intellectual disability. It is caused by a mutation in the gene encoding the protein ROR2. Symptoms may include a w...

Acrofacial dysostosis, Weyers type is a rare genetic disorder characterized by facial abnormalities, skeletal malformations, and intellectual disability. It is caused by a mutation in the gene encoding the protein NOG. Symptoms may include a wide-...

Acrofrontofacionasal dysostosis is a rare genetic disorder characterized by abnormalities of the face, skull, and hands. It is caused by a mutation in the FGFR2 gene, which is responsible for the development of the face, skull, and hands. Symptoms...

Acrogeria is a rare genetic disorder characterized by premature aging of the skin. It is caused by a mutation in the LMNA gene, which is responsible for producing lamin A, a protein that helps maintain the structure of the nucleus in cells. Sympto...

Acrokeratoelastoidosis of Costa is a rare skin disorder characterized by thickening and hardening of the skin on the palms and soles of the feet. It is caused by an accumulation of keratin, a protein found in the outer layer of the skin. Symptoms ...

Acrokeratosis verruciformis of Hopf is a rare skin disorder characterized by wart-like lesions on the hands and feet. It is caused by a mutation in the gene that codes for the protein keratin. The lesions are usually painless and may be present at...

Acromegaly is a rare disorder caused by an excess of growth hormone in the body. It is usually caused by a benign tumor on the pituitary gland, which is located at the base of the brain. Symptoms of acromegaly include enlargement of the hands, fee...

Acromelanosis is a rare skin disorder characterized by the presence of dark, pigmented patches on the skin. These patches are usually found on the face, neck, and hands, and can range in color from light brown to black. The cause of acromelanosis ...

Acromelic frontonasal dysplasia is a rare genetic disorder that affects the development of the face, head, and limbs. It is characterized by a wide forehead, a flat nasal bridge, a wide nasal tip, and a wide mouth. Other features may include a cle...

Acromesomelic dysplasia is a rare genetic disorder that affects the growth of bones in the arms and legs. It is characterized by short stature, short limbs, and abnormal bone development. People with this disorder may also have other physical abno...

Acromesomelic dysplasia, Grebe type is a rare genetic disorder characterized by short stature, skeletal abnormalities, and facial dysmorphism. It is caused by a mutation in the TRIP11 gene, which is responsible for the production of a protein invo...

Acromesomelic dysplasia, Hunter-Thompson type is a rare genetic disorder characterized by short stature, skeletal abnormalities, and facial features. It is caused by a mutation in the TRIP11 gene, which is responsible for the production of a prote...

Acromesomelic dysplasia, Maroteaux type is a rare genetic disorder characterized by short stature, skeletal abnormalities, and distinctive facial features. It is caused by a mutation in the TRPV4 gene, which is responsible for the production of a ...

Acromicric dysplasia is a rare genetic disorder that affects the growth of bones and cartilage. It is characterized by short stature, short hands and feet, and a distinctive facial appearance. Other features may include joint stiffness, hearing lo...

Acroosteolysis-keloid-like lesions-premature aging syndrome (AKLPAS) is a rare genetic disorder characterized by the development of abnormal bone growths (acroosteolysis) and keloid-like lesions on the skin. It is also associated with premature ag...

Acrootoocular syndrome is a rare genetic disorder characterized by the presence of facial abnormalities, including a wide-set eyes, a flat nasal bridge, and a small chin. It is also associated with a number of other physical and developmental abno...