Orphanet: X linked intellectual disability craniofacioskeletal syndrome

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X-linked intellectual disability-craniofacioskeletal syndrome

Disease definition

X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.

ORPHA:163979

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Unknown
Age of onset: Antenatal, Neonatal, Infancy
ICD-10: Q87.8
ICD-11: LD90
OMIM: 300712
UMLS: C4750743
MeSH: -
GARD: -
MedDRA: -

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X-linked intellectual disability-craniofacioskeletal syndrome

ORPHA:163979

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

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