Roberts-SC phocomelia syndrome

MONDO:0100253

A 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.

Also known as: Appelt-Gerken-Lenz syndrome, ESCO2 spectrum disorder, RBS, Roberts syndrome, Roberts syndrome/SC phocomelia, Roberts tetraphocomelia syndrome, Roberts-SC phocomelia syndrome, SC phocomelia syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Roberts-SC phocomelia syndrome itself.

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↑ Syndromic disease (7133) ↑ Autosomal recessive disease (994) ↑ Non-syndromic limb reduction defect (35)

Including sub-types (0) Tagged with Roberts-SC phocomelia syndrome (0)

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