Orphanet: Microcephaly corpus callosum hypoplasia intellectual disability facial dysmorphism syndrome

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Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others.

ORPHA:457284

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Neonatal, Infancy
ICD-10: Q87.0
OMIM: 616362
UMLS: C4225352
MeSH: -
GARD: -
MedDRA: -

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Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

ORPHA:457284

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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