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