has material basis in germline mutation in ESCO2 syndromic disease autosomal recessive disease obsolete Mendelian syndromes with cleft lip/palate obsolete syndrome with limb reduction defects obsolete dysostosis of genetic origin with limb anomaly as a major feature non-syndromic limb reduction defect obsolete musculoskeletal disease with cataract Roberts-SC phocomelia syndrome https://github.com/monarch-initiative/mondo/issues/2553 https://github.com/monarch-initiative/mondo/issues/4901 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6577 https://github.com/monarch-initiative/mondo/issues/6751 https://www.malacards.org/card/roberts_sc_phocomelia_syndrome SCTID:48718006 Orphanet:3103 SC phocomelia syndrome (mild variant of Roberts syndrome) Appelt-Gerken-Lenz 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. DOID:0050536 OMIM:268300 tetraphocomelia-cleft palate syndrome phocomelia-pseudothalidomide syndrome long bone deficiencies associated with cleft lip-palate UMLS:C0392475 Roberts tetraphocomelia syndrome OMIM:269000 ESCO2 spectrum disorder RBS Roberts-SC phocomelia syndrome MONDO:0100253 DOID:5325 SC phocomelia NCIT:C4681 SC phocomelia syndrome Roberts syndrome hypomelia hypotrichosis facial hemangioma syndrome Roberts syndrome/SC phocomelia GARD:0007387 MEDGEN:95931 pseudothalidomide syndrome MESH:C535687 SC pseudothalidomide syndrome