H01790 | |
H number | H01790 |
Name | Emanuel syndrome; Supernumerary derivative 22 syndrome |
Description | Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Patients have a supernumerary derivative chromosome caused by a parental balanced translocation between chromosomes 11 and 22. |
Category | Chromosomal abnormality |
Network | - |
Gene | - |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | In more than 99% of cases, one of the parents of a proband with Emanuel syndrome is a balanced carrier of a t(11;22)(q23;q11.2) and is phenotypically normal. |
Other DBs | ICD-11: LD41.Q ICD-10: Q92.8 MeSH: C535733 OMIM: 609029 |
Reference | PMID:20301440 AUTHORS Emanuel BS, Zackai EH, Medne L TITLE Emanuel Syndrome JOURNAL GeneReviews (1993) PMID:23691404 AUTHORS Choudhary MG, Babaji P, Sharma N, Dhamankar D, Naregal G, Reddy VS TITLE Derivative 11;22 (emanuel) syndrome: a case report and a review. JOURNAL Case Rep Pediatr 2013:237935 (2013) DOI:10.1155/2013/237935 PMID:19606488 AUTHORS Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM TITLE Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. JOURNAL Am J Med Genet A 149A:1712-21 (2009) DOI:10.1002/ajmg.a.32957 |