Roberts-SC phocomelia syndrome
Definition:
Roberts syndrome is a autosomal recessive disorder featuring severe pre- and postnatal growth retardation, craniofacial anomalies, and tetraphocomelia that is caused by mesomelic shortening. SC phocomelia is milder with less marked limb reduction. Mutations in the ESCO2 gene have been detected in both disorders.
References:
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[1]. Birgitt Schüle, et al. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am J Hum Genet. 2005 Dec;77(6):1117-28. [Content Brief]
[2]. Elaine Suk-Ying Goh, et al. The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. Am J Med Genet A. 2010 Feb;152A(2):472-8. [Content Brief]
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