Orphanet: Congenital osteogenesis imperfecta microcephaly cataracts syndrome

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Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

Disease definition

A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal in utero or shortly after birth. There have been no further descriptions in the literature since 1978.

ORPHA:2772

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Neonatal, Antenatal
ICD-10: Q78.0
ICD-11: LD24.KY
OMIM: 259410
UMLS: C1850184
MeSH: C537558
GARD: -
MedDRA: -

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Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

ORPHA:2772

A summary on this disease is available in Deutsch (2006) Italiano (2006) Español (2021) Français (2021) Nederlands (2021)

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