Acropectorovertebral dysplasia (APVD) is a very rare birth condition that mainly affects the hands, feet, chest (pectoral area), and spine. Babies are born ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Acropectororenal dysplasia (also written as “acro-pectoro-renal field defect”) is a very rare birth condition. It brings together three groups of changes in ...
Syndactyly-preaxial polydactyly-sternal deformity syndrome is a rare, inherited body pattern where a child is born with fingers and toes that are fused ...
Acropectoral syndrome is a very rare genetic condition that affects the hands, feet, and the front of the chest. Babies are born with joined fingers and toes ...
Pseudopapilledema–blepharophimosis–hand anomalies syndrome is an extremely rare inherited condition that affects the eyes, ears, face, and the ends of the ...
Acro-oto-ocular syndrome is a very rare, likely autosomal recessive genetic condition that affects three main body areas: the extremities (hands/feet = ...
Premature ageing syndrome is a group of health conditions where a person’s body shows signs of ageing much earlier than normal. “Ageing” here means changes ...
Penttinen type premature ageing syndrome is a very rare genetic progeroid disorder in which a child or adult looks older than their age and develops changes in ...
Acroosteolysis-keloid-like lesions-premature aging syndrome is a very rare, inherited connective-tissue disorder. Children look older than their age because ...
Serpentine fibula–polycystic kidney syndrome is a very rare genetic condition that mainly affects bones and kidneys. People have curved “S-shaped” fibula bones ...
Hajdu-Cheney Syndrome is a very rare, inherited bone disorder. The key signs are bone loss at the tips of the fingers and toes (called “acro-osteolysis”), weak ...
Cheney syndrome is the short name many clinicians and families use for Hajdu–Cheney syndrome (HCS)—a very rare, inherited (often new/sporadic) disorder that ...
Arthrodentoosteodysplasia—often used as another name for Hajdu–Cheney syndrome—is a very rare, inherited disorder that mainly affects the skeleton and teeth. ...
Acrodentoosteodysplasia (ADOd) is a very rare genetic bone and tooth development disorder. The name describes the core problems: acro (hands and feet), dento ...
Acro-osteolysis, dominant type is a rare inherited bone condition where the tips of the fingers and toes (the distal phalanges) slowly dissolve or are ...
Acromicric dysplasia is a rare genetic bone growth disorder. The word “acromicric” means the ends of the limbs (hands and feet) are small. “Dysplasia” means ...
Acromesomelic Campailla-Martinelli type dysplasia is a very rare genetic skeletal growth disorder. It mainly affects the “middle” (mesomelic) and “end” ...
Acromesomelic Demirhan type dysplasia is a very rare, inherited bone growth disorder. It mainly shortens the middle parts of the arms and legs (forearms and ...
Acromesomelic type 3 dysplasia is a rare genetic bone-growth condition. It mostly affects the middle and end parts of the arms and legs (forearms, lower legs, ...
Acromesomelic dysplasia, Hunter–Thompson type is a very rare, inherited bone growth disorder. It mainly affects the arms and legs. Children are born with short ...
