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


Differential diagnosis:

(1) glucocorticoid remediable aldosteronism (autosomal dominant)

(2) Liddle syndrome (autosomal dominant)

(3) apparent mineralocorticoid excess (autosomal recessive)


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