Orphanet: Congenital labioscrotal agenesis cerebellar malformation corneal dystrophy facial dysmorphism syndrome

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Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons.

ORPHA:495875

Classification level: Disorder

Synonym(s):
- Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Neonatal
ICD-10: Q87.8
OMIM: -
UMLS: C5567455
MeSH: -
GARD: -
MedDRA: -

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Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

ORPHA:495875

A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021)

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