Emanuel syndrome

Also known as: Supernumerary der(22) syndrome

Derivative chromosome 22 syndrome from 11;22 translocation.

Medical specialty: Genetics
Subspecialty: Genetics / Chromosomal disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: None recorded

Etiology & mechanism

Supernumerary derivative chromosome from parental t(11;22).

Gene(s) involved (0)

No gene recorded.

Symptoms & signs (6)

cleft palateheart defectshypotoniamicrocephalypreauricular tagssevere intellectual disability

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.