Cleft palate–cardiac defect–genital anomalies–ectrodactyly syndrome is a very rare genetic condition. It affects several parts of the body at the same time. The main features are: a cleft palate (an ...
Cleft palate–cardiac defect–genital anomalies–ectrodactyly syndrome is a very rare genetic condition. It affects several parts of the body at the same time. The main features are: a cleft palate (an ...
Acro-cardio-facial syndrome is a very rare genetic condition. Children born with ACFS usually have a special pattern of changes in three body areas: the hands and feet (“acro”), the heart (“cardio”), ...
Acrocapitofemoral dysplasia (ACFD) is a very rare, inherited bone growth disorder. Children are usually born looking healthy, but as they grow they develop short stature with short arms and legs and ...
Schinzel acrocallosal syndrome is a very rare genetic condition present from birth. The brain’s “bridge” that connects the left and right halves—the corpus callosum—is partly formed, very thin, or ...
Acrocallosal syndrome (ACLS) is a very rare genetic condition. It mainly affects the brain and the hands and feet. The key brain change is that the corpus callosum—the bridge that connects the right ...
Split hand/split foot–mandibular hypoplasia syndrome is a very rare birth condition. This syndrome is a birth-present (congenital) difference that mainly affects the hands, feet, and lower jaw. The ...
Acquired von Willebrand syndrome (AVWS) is a bleeding problem that starts later in life. It is not inherited from parents. It happens because another disease or a medical device changes the level or ...
Acquired thrombotic thrombocytopenic purpura (aTTP) is a rare, life-threatening blood disorder. Your blood contains a protein–enzyme called ADAMTS13. In aTTP, the immune system makes antibodies that ...
Polycythaemia vera is a long-lasting blood cancer. Your bone marrow makes too many red blood cells. Sometimes white cells and platelets are high too. The blood becomes thicker. Thick blood moves ...
Osler–Vaquez disease is an old name for polycythemia vera (PV). PV is a long-lasting blood disease where the bone marrow makes too many red blood cells. Sometimes it also makes too many white blood ...
Acquired polycythemia vera (PV) is a chronic blood cancer of the bone marrow in which the body makes too many red blood cells. Many people with PV also make extra white blood cells and platelets. The ...
Progressive cephalothoracic lipodystrophy is a rare body-fat loss disorder. “Progressive” means it slowly gets worse over time. “Cephalo-thoracic” means it mostly affects the head (face) and the ...
Barraquer-Simons syndrome is a very rare condition where body fat slowly disappears from the upper half of the body—first the face, then the neck, shoulders, arms, chest, and sometimes upper abdomen. ...
Acquired partial lipodystrophy (APL) is a rare body-fat disorder that starts after birth (so it is acquired, not present at birth). People gradually lose the normal layer of fat under the skin in a ...
Acquired idiopathic inflammatory myopathy (IIM) is a group of rare diseases where your immune system wrongly attacks your own muscles. “Acquired” means it starts during life (not something you’re ...
Acquired hypertrichosis lanuginosa (AHL) is a rare condition in adults. Very fine, soft, light-colored “baby-like” hair (lanugo) grows suddenly on the face and then on other parts of the body. This ...
Lawrence–Seip syndrome—also called Berardinelli–Seip congenital lipodystrophy (BSCL) or congenital generalized lipodystrophy (CGL)—is a very rare, inherited condition in which a baby is born with ...
Lawrence syndrome is another name for acquired generalized lipodystrophy (AGL). In this rare condition, a person who was born with normal body fat gradually loses almost all of the fat under the skin ...
Acquired lipoatrophic diabetes is a rare condition where a person gradually loses most or all of their body fat after birth. Because fat tissue is missing, the body cannot store fat safely and cannot ...
