Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Malformation syndrome Synonyms Bilginturan brachydactyly Brachydaktylia Bilginturana Brachydaktylia typu E z niskim wzrostem i nadciśnieniem Zespół Bilginturana Bilginturan syndrome Brachydactyly type E, with short stature and hypertension ORPHA code 1276 OMIM code 112410 ICD10 code Q73.8 ICD11 code 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