Sc phocomelia 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. It is considered to be a mild variant of Roberts syndrome.
Disease Alternative Name
pseudothalidomide syndrome
roberts-sc phocomelia syndrome
phocomelia-pseudothalidomide syndrome
hypomelia hypotrichosis facial hemangioma syndrome
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MUMBAI
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Rachana Hospital
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Seth GSMC AND KEMH
MD DNB DCH
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Cuttack
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S.c.b.m.c.h
Undergraduate Student
S.c.b.m.c.h
MBBS
Speaks Bengali, English, Hindi, Maithili, Oriya
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