Hypertension associated with specific physical stigmata may occur in certain families. It may be related to increased fibroblastic proliferation. It was first described in a Turkish kindred but has found in other populations.
Inheritance: autosomal dominant
Chromosome location: 12p11.2 to 12p12.2
Clinical findings:
(1) short stature
(2) brachydactyly (Type E)
(3) severe hypertension
These patients show
(1) absence of salt sensitivity
(2) normal rennin-angiotensin system
(3) normal sympathetic nervous system
(4) normal day-night circadian blood pressure rhythm
