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Hypomelia Hypotrichosis Facial Hemangioma Syndrome
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. Cardiac, renal and genital abnormalities may also be seen. Clinical course is variable. In the most severe cases, this syndrome is incompatible with life. (NCI Thesaurus)
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