Acrorenal Syndrome
Acrorenal syndrome is a rare condition present at birth. It affects the growth of the hands and feet (“acro”) and the kidneys and urinary tract (“renal”). The baby may have fewer fingers or toes, ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Acropectorovertebral Dysplasia (APVD)
Acropectorovertebral dysplasia (APVD) is a very rare birth condition that mainly affects the hands, feet, chest (pectoral area), and spine. Babies are born with differences in the number and shape of ...
Acropectororenal Dysplasia
Acropectororenal dysplasia (also written as “acro-pectoro-renal field defect”) is a very rare birth condition. It brings together three groups of changes in the same person: (1) chest wall or chest ...
Syndactyly-Preaxial Polydactyly-Sternal Deformity Syndrome
Syndactyly-preaxial polydactyly-sternal deformity syndrome is a rare, inherited body pattern where a child is born with fingers and toes that are fused together (syndactyly), extra digits on the ...
Acropectoral Syndrome
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 (syndactyly), and some have an extra ...
Pseudopapilledema–Blepharophimosis–Hand Anomalies Syndrome
Pseudopapilledema–blepharophimosis–hand anomalies syndrome is an extremely rare inherited condition that affects the eyes, ears, face, and the ends of the limbs (hands and feet). The name explains ...
Acro Oto Ocular Syndrome (AOOS)
Acro-oto-ocular syndrome is a very rare, likely autosomal recessive genetic condition that affects three main body areas: the extremities (hands/feet = “acro-”), the ears (“oto-”), and the eyes ...
Premature Ageing Syndrome (Progeroid Syndromes)
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 like thin skin, hair loss, bone weakness, ...
Penttinen Type Premature Ageing Syndrome
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 skin, fat, bone, and soft tissues. ...
Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome
Acroosteolysis-keloid-like lesions-premature aging syndrome is a very rare, inherited connective-tissue disorder. Children look older than their age because the fat under the skin is reduced, the ...
Serpentine Fibula Polycystic Kidney Syndrome
Serpentine fibula–polycystic kidney syndrome is a very rare genetic condition that mainly affects bones and kidneys. People have curved “S-shaped” fibula bones in the lower legs, multiple cysts in ...
Hajdu-Cheney Syndrome
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 bones with easy fractures (generalized ...
Cheney Syndrome
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 mainly affects bone. The hallmark is ...
Arthrodentoosteodysplasia
Arthrodentoosteodysplasia—often used as another name for Hajdu–Cheney syndrome—is a very rare, inherited disorder that mainly affects the skeleton and teeth. The key problem is unusually high ...
Acrodentoosteodysplasia (ADOd)
Acrodentoosteodysplasia (ADOd) is a very rare genetic bone and tooth development disorder. The name describes the core problems: acro (hands and feet), dento (teeth), and osteo (bones). Children are ...
Acro-Osteolysis Dominant Type
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 re-absorbed by the body. “Dominant type” means a ...
Acromicric Dysplasia
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 the way the bones form and grow is not ...
Acromesomelic Campailla-Martinelli Type Dysplasia
Acromesomelic Campailla-Martinelli type dysplasia is a very rare genetic skeletal growth disorder. It mainly affects the “middle” (mesomelic) and “end” (acromelic) parts of the arms and legs. Babies ...
Acromesomelic Demirhan Type Dysplasia
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 lower legs) and the far ends (hands and ...
Acromesomelic Type 3 Dysplasia
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, hands, and feet). Babies are usually ...
