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Захворювання, подібне до синдрому Нунана, з випаданням анагенного волосся

ORPHA:2701· ICD-10 Q87.1· Noonan syndrome-like disorder with loose anagen hair

Визначення(English summary)

A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichtyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Antenatal, Infancy, Neonatal