Iris coloboma with ptosis - intellectual deficit

Orpha number	ORPHA2995
Prevalence of rare diseases	<1 / 1 000 000
Inheritance	Autosomal recessive
Age of onset	Neonatal/infancy
ICD 10 code	Q04.3 Q15.8
MIM number	243310

Synonym(s)

Baraitser-Winter syndrome

Summary

This syndrome is characterised by iris coloboma with ptosis and intellectual deficit. It has been reported in ten cases so far. The clinical picture includes dysmorphism with eye abnormalities (iris coloboma, microphthalmos, microcornea bilateral ptosis, hypertelorism, epicanthus inversus, broad and flat nasal bridge), brain malformations (agyria-pachygyria), intellectual deficiency and postnatal growth retardation. Transmission is autosomal recessive.

Expert reviewer(s)

Pr Gérard PONSOT

Last update: May 2007

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Iris coloboma with ptosis - intellectual deficit

Summary

Expert reviewer(s)

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