H00572 | |
H number | H00572 |
Name | Roberts-SC phocomelia syndrome |
Description | 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. |
Category | Congenital malformation |
Network | nt06512(H00572) Chromosome cohesion and segregation |
Gene | ESCO2 [HSA:157570] [KO:K11268] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2F.1Y ICD-10: Q73.8 MeSH: C535687 OMIM: 268300 |
Reference | PMID:20301332 AUTHORS Gordillo M, Vega H, Jabs EW TITLE Roberts Syndrome JOURNAL GeneReviews (1993) PMID:20101700 AUTHORS Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF TITLE The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. JOURNAL Am J Med Genet A 152A:472-8 (2010) DOI:10.1002/ajmg.a.33261 PMID:16380922 AUTHORS Schule B, Oviedo A, Johnston K, Pai S, Francke U TITLE Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. JOURNAL Am J Hum Genet 77:1117-28 (2005) DOI:10.1086/498695 |