Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. Disease data Klasyfikacja Malformation syndrome Synonimy Bilginturan brachydactyly Brachydaktylia Bilginturana Brachydaktylia typu E z niskim wzrostem i nadciśnieniem Zespół Bilginturana Bilginturan syndrome Brachydactyly type E, with short stature and hypertension Kod ORPHA 1276 Kod OMIM 112410 Kod ICD10 Q73.8 Kod ICD11 LD24.8Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl