Alazami syndrome

Orpha code: 319671OMIM code: 615071

Definicja

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).

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Microcephalic primordial dwarfism, Alazami type
Microcephalic primordial dwarfism, Alazami type
Kod ORPHA
319671
Kod OMIM
615071
Kod ICD10
Q87.1
Kod ICD11
-

No additional description.

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