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. ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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 ...
Acrocapitofemoral dysplasia (ACFD) is a very rare, inherited bone growth disorder. Children are usually born looking healthy, but as they grow they develop ...
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 ...
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 ...
Split hand/split foot–mandibular hypoplasia syndrome is a very rare birth condition. This syndrome is a birth-present (congenital) difference that mainly ...
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 ...
Acquired thrombotic thrombocytopenic purpura (aTTP) is a rare, life-threatening blood disorder. Your blood contains a protein–enzyme called ADAMTS13. In aTTP, ...
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 ...
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. ...
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 ...
Progressive cephalothoracic lipodystrophy is a rare body-fat loss disorder. “Progressive” means it slowly gets worse over time. “Cephalo-thoracic” means it ...
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, ...
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 ...
Acquired idiopathic inflammatory myopathy (IIM) is a group of rare diseases where your immune system wrongly attacks your own muscles. “Acquired” means it ...
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 ...
Lawrence–Seip syndrome—also called Berardinelli–Seip congenital lipodystrophy (BSCL) or congenital generalized lipodystrophy (CGL)—is a very rare, inherited ...
Lawrence syndrome is another name for acquired generalized lipodystrophy (AGL). In this rare condition, a person who was born with normal body fat gradually ...
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 ...
Acquired generalized lipodystrophy (AGL) is a rare condition where a person gradually loses almost all body fat under the skin (subcutaneous fat) after birth. ...
