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Синдром брахідактилії з артеріальною гіпертензією

ORPHA:1276· ICD-10 Q73.8· Brachydactyly-arterial hypertension syndrome

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Neonatal