Alazami syndrome

Orpha code: 319671OMIM code: 615071

Definition

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
Classification

Malformation syndrome

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

No additional description.

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