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SC phocomelia syndrome
Genetics:
- associated with defects in ESCO2
Clinical manifestations:
- milder phenotype than Roberts syndrome
- lesser degree of symmetric limb reduction
- additionally includes
- flexion contractures of various joints
- midfacial hemangioma
- hypoplastic cartilage of ears & nose
- scant silvery-blond hair
- cloudy corneae
- microcephaly is present; mental retardation may be mild
- survival into adulthood is common
Differential diagnosis:
- Roberts syndrome
Related
N-acetyltransferase ESCO2; establishment of cohesion 1 homolog 2; ECO1 homolog 2 (ESCO2)
Roberts syndrome (RBS)
General
phocomelia
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 269000
References
OMIM :accession 269000