A rare genetic brachydactyly syndrome with the association of brachydactyly type E and 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.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3321269015
Brachydactyly and arterial hypertension syndrome
Active
Synonym
false
false
3321270019
Bilginturan brachydactyly
Active
Synonym
false
false
3321271015
Bilginturan syndrome
Active
Synonym
false
false
3321272010
Brachydactyly type E with short stature and hypertension