Acrocraniofacial dysostosis is a rare genetic disorder that affects the development of the skull, face, and hands. It is characterized by a small head, a flat face, and abnormally shaped hands and fingers. Other features may include a cleft palate...

Acrodermatitis continua of Hallopeau (ACH) is a rare skin condition that causes painful, red, scaly patches on the hands and feet. It is also known as pustular psoriasis of the hands and feet. ACH is an autoimmune disorder, meaning that the body�...

Acrodermatitis enteropathica is a rare inherited disorder that affects the skin, hair, and nails. It is caused by a deficiency of zinc in the body. Symptoms include dry, scaly skin, hair loss, and nail abnormalities. Treatment involves supplementi...

Acrodermatitis Enteropathica (AE) is a rare inherited disorder of zinc metabolism that affects the skin, hair, nails, and eyes. It is characterized by a red, scaly rash on the hands and feet, alopecia (hair loss), and nail dystrophy (thickening an...

Acrodysostosis is a rare genetic disorder that affects the development of bones and other parts of the body. It is characterized by short stature, underdeveloped bones in the hands and feet, and facial abnormalities. Other symptoms may include hea...

Acrodysostosis with multiple hormone resistance is a rare genetic disorder characterized by skeletal abnormalities, short stature, and resistance to multiple hormones. It is caused by a mutation in the PRKAR1A gene, which is responsible for the pr...

Acrodysplasia scoliosis is a rare form of scoliosis that is caused by a genetic mutation. It is characterized by short stature, skeletal abnormalities, and scoliosis. It is usually diagnosed in infancy or early childhood. Treatment typically invol...

Acrofacial dysostosis, Catania 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 filamin B. Symptoms may include ...

Acrofacial dysostosis, Kennedy-Teebi 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 transcription factor TBX1. Symptom...

Acrofacial dysostosis, Palagonia 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 filamin A. Symptoms may includ...

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...