Disease: ABCD syndrome

A rare inherited condition characterized by albinism, deafness, a black lock of hair and intestinal abnormalities.

Source: http://www.rightdiagnosis.com

ABCD syndrome is caused by a mutation in the EDNRB gene.

Source: http://www.rightdiagnosis.com

["Hypertelorism, ocular\n","Acroosteolysis\n","Micrognathia\n\nSource: Diseases Database\n\nSee also the symptoms of Van Bogaert-Hozay syndrome and ","Death\n","Sepsis\n\nSee also the symptoms of Febrile Ulceronecrotic Mucha-Habermann disease and Febr","Female infertility\n","Amenorrhoea\n\nSource: Diseases Database\n\nSee also the symptoms of Asherman's syndrome and ","Low density lipoprotein levels low (serum or plasma)\n","Lymphadenopathy\n","Hypocholesterolaemia\n","Peripheral neuropathy\n","Splenomegaly\n","Hepatomegaly\n","Corneal opacity\n","High density lipoprotein levels low (plasma or serum)\n","Autonomic neuropathy, peripheral\n","Intermediate density lipoprotein levels raised (plasma or serum)\n\nSource: Diseases Database\n\nSee also the symptoms of Tangier disease and ","Onycholysis\n","Nail pitting\n","Alopecia\n\nSource: Diseases Database\n\nSee also the symptoms of Alopecia Areata and ","Kidney failure\n","Respiratory failure\n","Heart failure\n","Endocrine failure\n\nSee also the symptoms of Amyloidosis, inflammatory and Amyl","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial abdominal 1 and Aort","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial abdominal 2 and Aort","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial abdominal 3 and Aort","Loss of vision\n\nSee also the symptoms of Acute Angle Closure Glaucoma and Acut","Cirrhosis of liver\n","Cholestasis, intrahepatic\n","Lymphoedema\n\nSource: Diseases Database\n\nSee also the symptoms of Aagenaes syndrome and ","Optic nerve disorder\n\nSource: Diseases Database\n\nSee also the symptoms of Optic neuropathy, anterior ischemic and ","Death\n\nSee also the symptoms of Chemical poisoning -- Lindane and Chem","Death soon after birth (see Stillbirth)\n\nSee also the symptoms of Al Awadi syndrome and Al A","Pectus excavatum\n","Ophthalmoplegia\n","Short stature\n","Syndactyly\n","Strabismus, concomitant\n","Hypertelorism, ocular\n","Blepharoptosis\n","Cryptorchism (maldescended or ectopic testis)\n\nSource: Diseases Database\n\nSee also the symptoms of Aarskog Syndrome and ","Joint hypermobility\n","Rieger anomaly\n","Lipodystrophy\n","Clinodactyly\n","Facies abnormality\n","Short stature\n","Intrauterine growth retardation\n\nSource: Diseases Database\n\nSee also the symptoms of Aarskog-Ose-Pande syndrome and ","Sensory neuropathy (see Tingling) - due to administration of excessive levels of pyridoxine\n\nSee also the symptoms of Epilepsy, Pyridoxine-Dependent and Epil","Ventricular septal defect\n","Pure red cell aplasia\n","Short stature\n\nSource: Diseases Database\n\nSee also the symptoms of Aase Smith syndrome and ","Impaired resistance to infection\n","Complications due to anemia e.g. tiredness\n","Severe cases may result in death at birth or early in life\n\nSee also the symptoms of Aase Syndrome and Aase","Stillbirth\n","Death during infancy\n","Anemia\n\nSee also the symptoms of Aase-Smith I syndrome and Aase","Cirrhosis\n","Portal hypertension\n","Osteoporosis\n","Heart failure\n","Hemosiderosis due to multiple blood transfusions\n","Increased risk of leukemia\n","Osteoporosis due to long term corticosteroid therapy\n","Thrombocytosis\n","Congestive heart failure\n","Premature death (type of Death)\n\nSee also the symptoms of Diamond-Blackfan anemia and Diam","Ligament laxity\n","Learning disability\n","Aminoaciduria\n\nSource: Diseases Database\n\nSee also the symptoms of Saccharopinuria and ","Emphysema\n","Liver damage\n","Panniculitis\n\nSee also the symptoms of Homozygotic Alpha 1 antitrypsin Defeciency and Homo","Cirrhosis of liver\n","Hepatic failure\n","Neonatal jaundice\n","Hepatocellular jaundice\n","Emphysema, pulmonary\n","Serum protein electrophoresis abnormal\n\nSource: Diseases Database\n\nSee also the symptoms of Alpha 1-Antitrypsin Deficiency and ","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial thoracic 1 and Aort","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial thoracic 2 and Aort","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial thoracic 3 and Aort","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial thoracic 4 and Aort","Burst aortic aneurysm\n","Death\n\nSee also the symptoms of Aortic aneurysm, familial thoracic 5 and Aort","Hypotonia (skeletal muscle)\n","Cherry red spot on macula\n","Learning disability\n","Fits\n\nSource: Diseases Database\n\nSee also the symptoms of GM2-gangliosidosis, AB variant and ","Anaphylactic shock\n","Unconsciousness due to anaphylactic reaction\n","Death due to anaphylactic reaction\n\nSee also the symptoms of Food Allergy -- abalone and Food","Hypotonia (skeletal muscle)\n","Hyperreflexia\n","Tall stature\n","Learning disability\n\nSource: Diseases Database\n\nSee also the symptoms of Gamma aminobutyric acid transaminase deficiency and Gamma aminob","Aminoaciduria\n","Megaloblastic anaemia\n","Hyperglycaemia\n","Sensorineural hearing loss\n\nSource: Diseases Database\n\nSee also the symptoms of Thiamine responsive megaloblastic anemia syndrome and Thiamine respo","Hearing loss\n","Albinism\n","Macrosomia\n\nSource: Diseases Database\n\nSee also the symptoms of ABCD syndrome an"]

Source: http://www.rightdiagnosis.com

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