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

More general terms

• phocomelia
• genetic syndrome (multisystem disorder)

Additional terms

• N-acetyltransferase ESCO2; establishment of cohesion 1 homolog 2; ECO1 homolog 2 (ESCO2)
• Roberts syndrome (RBS)

Database

• OMIM: https://mirror.omim.org/entry/269000