/Roberts-SC phocomelia syndrome

Roberts-SC phocomelia syndrome

Rare Disease

MONDO:0100253

Also Known As

Appelt-Gerken-Lenz syndromeESCO2 spectrum disorderRBSRoberts syndromeRoberts syndrome/SC phocomeliaRoberts tetraphocomelia syndromeRoberts-SC phocomelia syndromeSC phocomelia syndromehypomelia hypotrichosis facial hemangioma syndromelong bone deficiencies associated with cleft lip-palatephocomelia-pseudothalidomide syndromepseudothalidomide syndrometetraphocomelia-cleft palate syndromeSC phocomeliaSC phocomelia syndrome (mild variant of Roberts syndrome)SC pseudothalidomide syndrome

Definition

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.