Orphanet: Severe intellectual disability short stature behavioral abnormalities facial dysmorphism syndrome

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Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

Disease definition

A rare, genetic, syndromic intellectual disability syndrome characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.

ORPHA:391307

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: Q87.8
OMIM: 615541
UMLS: C4750851
MeSH: -
GARD: -
MedDRA: -

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Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

ORPHA:391307

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

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