disease has basis in dysfunction of PDE3A brachydactyly-arterial hypertension syndrome Bilginturan brachydactyly Bilginturan syndrome Brachydactyly - arterial hypertension is 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 and, if untreated, most patients will have had a stroke by the age of 50. DOID:0111247 GARD:0000967 HTNB ICD10:Q73.8 MESH:C537095 MONDO:0007211 OMIM:112410 Orphanet:1276 SCTID:720568003 UMLS:C1862170 brachydactyly type E with short stature and hypertension brachydactyly type E, with short stature and hypertension brachydactyly with hypertension brachydactyly, type E, with short stature and hypertension hypertension and brachydactyly syndrome genetic hypertension syndrome with brachydactyly