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Синдром Алазамі

ORPHA:319671· ICD-10 Q87.1· Alazami syndrome

Визначення(English summary)

A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).

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