brachydactyly-arterial hypertension 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.
MONDO:0002254
syndromic disease
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
MONDO:0021004
brachydactyly
is_a
Bilginturan brachydactyly
exact
Bilginturan syndrome
exact
HTNB
related
brachydactyly type E with short stature and hypertension
related
brachydactyly type E, with short stature and hypertension
exact
hypertension and brachydactyly syndrome
related