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Steinfeld syndrome

MIM.184705

Sunday 12 June 2005

Autosomal dominant malformative syndrome.

Synopsis

- holoprosencephaly
- bilateral hypoplasia of radius and ulna
- absent/hypoplastic thumbs
- phocomelia
- unilateral renal dysplasia
- absent gallbladder
- midline cleft lip/palate
- absent philtrum
- bifid uvula
- microphthalmia
- coloboma of iris and retina
- absent nose
- dysplastic ears
- congenital hearing loss
- congenital heart defect
- pentalogy of Fallot
- vertebral anomalies
- absent ribs