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Roberts-SC phocomelia syndrome
rareA rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.
- Identifiers
- MONDO:0100253 OMIM:268300OMIM:269000Orphanet:3103
- Causal genes
- ESCO2
- Also known as
- Appelt-Gerken-Lenz syndrome · ESCO2 spectrum disorder · hypomelia hypotrichosis facial hemangioma syndrome · long bone deficiencies associated with cleft lip-palate · phocomelia-pseudothalidomide syndrome
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