Acheiropodia is an extremely rare malformation syndrome that has so far only been discovered in Brazil.
In the achalasia-microcephaly syndrome, microcephaly, lack of talent and early signs of achalasia appear.
Achalasia-addisonism-alacrimia syndrome, also known as triple A syndrome, is characterized by the co-occurrence of Addison's disease, achalasia, and alacrimia.
Aceruloplasminanemia is a neurodegenerative disease that occurs only at advanced age. Characteristic is an iron storage in the brain, which leads to neurological problems over time.
Medium chain acyl-CoA dehydrogenase deficiency (ACADM deficiency) is an autosomal recessive inherited defect in mitochondrial fatty acid oxidation.
Aburzzo-Erickson syndrome describes the combination of cleft palate, hypospadias, deafness, short stature, coloboma, large and protruding ears, and radio-ulnar synostosis.
Ablepharon macrostomy syndrome (AMS) describes a syndrome in which facial, genital and cutaneous symptoms as well as delayed speech development occur.
ABeta amyloidosis, Dutch type, (Hereditary cerebral hemorrhage with amyloidosis, Dutch type) is a special type of HCHWA and is a group of familial disorders of the central nervous system characterized by amyloid deposits in the main blood vessels.
The Aase-Smith syndrome type II is also referred to as Diamond Blackfan anemia (DBA) and describes a severe chronic anemia with a low number of red blood cells.
The Aarskog-Ose-Pande Syndrome is composed of the symptoms of short stature, hyperextensible joints, inguinal hernias, deep-set eyes, the Rieger anomaly and delayed tooth growth.
Aagenaes syndrome is an underdevelopment of the lymphatic vessels leading to a severe, chronic lymphedema in the legs.
The L-amino acid decarboxylase (AADC) deficiency describes a severe neurometabolic disease that prevents the normal growth and proper "data transmission" of the brain.
AA amyloidosis can occur in any chronic inflammatory disease (e.g. chronic osteomyelitis, tuberculosis).
3M syndrome is a rare, autosomal recessive disorder whose main features are stunted growth, conspicuous head and face shape, narrow and elongated bones and ribs, and shortened vertebral bodies.
Das x-chromosomale Allan-Herndon-Dudley-Syndrom ist gekennzeichnet durch geistige Retardierung (XL-MR) und neuromuskuläre Beteiligung mit Muskelhypoplasie und -hypotonie.
Bei der PBC handelt es sich um das Spätstadium einer chronischen Entzündung der Gallenwege in der Leber, der sogenannten nicht eitrigen destruierenden Cholangitis.
Das hereditäre Angioödem (HAE) ist eine Sonderformdes Quinckeödems und gekennzeichnet durch vorübergehende und rezidivierende subkutane und/oder submuköse Ödeme mit Schwellungen und Leibschmerzen.
Die Phenylketonurie (PKU) ist eine der häufigsten angeborenen Stoffwechselerkrankungen.
Narkolepsie ist eine neurologische Erkrankung, die sich auf den Schlaf-Wach-Rhythmus der Patienten auswirkt. Sie gehört zu den Hypersomnien mit zentraler Ursache.
Morbus Gaucher (Gaucher-Syndrom) ist eine genetisch bedingte Fettstoffwechselstörung. Sie ist die häufigste lysosomale Speicherkrankheit aus dem Formenkreis der Sphingolipidosen.