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Emanuel syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Emanuel syndrome

Emanuel syndrome is a rare chromosomal disorder characterized by developmental delays, intellectual disability, and various physical abnormalities caused by extra genetic material.

Overview

Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with this condition often experience weak muscle tone (hypotonia) and failure to thrive. Most affected individuals have severe to profound intellectual disability and significant developmental delays.

Common Features

  • Unusually small head (microcephaly)
  • Distinctive facial features
  • Small lower jaw (micrognathia)
  • Ear abnormalities, including small holes in the skin (preauricular pits or sinuses)
  • Opening in the roof of the mouth (cleft palate) or a cleft lip
  • Genital abnormalities in males
  • Heart defects
  • Absent or unusually small (hypoplastic) kidneys

Causes

Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, affected individuals have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22, known as a derivative 22 or der(22) chromosome.

This results in three copies of some genes instead of the usual two, which disrupts normal development.

Inheritance

Almost everyone with Emanuel syndrome inherits the der(22) chromosome from an unaffected parent who carries a chromosomal rearrangement called a balanced translocation. While balanced translocations do not cause health problems in the carrier, they can become unbalanced when passed to the next generation. Individuals with Emanuel syndrome inherit an unbalanced translocation that introduces the extra genetic material responsible for the disorder.

Frequently Asked Questions

Many infants have poor suck‑swallow coordination and gastro‑esophageal reflux. A multidisciplinary approach—speech‑language pathologist for oral‑motor therapy, pediatric gastroenterologist for reflux management (e.g., proton‑pump inhibitors, positioning), and, when needed, a feeding tube (gastrostomy) to ensure adequate nutrition—provides the best outcomes.
Early enrollment in physical, occupational, and speech therapy (ideally before 12 months of age) is critical. Structured early intervention programs focusing on motor milestones, communication, and adaptive skills have been shown to improve long‑term functional independence.
If a parent carries a balanced translocation involving chromosomes 11 and 22, the risk of having another child with Emanuel syndrome is about 10–15 % for each pregnancy. If neither parent is a carrier, the recurrence risk is very low (<1 %). Genetic testing of both parents is essential to determine the exact risk.
Secundum atrial septal defects and ventricular septal defects are frequent. An initial echocardiogram at diagnosis, followed by repeat imaging at 6 months and then annually, is advised. Surgical repair is considered when shunts cause significant left‑to‑right flow, heart failure, or growth failure.
Yes. Baseline renal ultrasound to assess for hypoplastic kidneys, followed by renal function tests (creatinine, electrolytes) every 1–2 years; audiology evaluation annually; ophthalmology exam for vision problems; and growth monitoring at each well‑child visit. Early detection of organ involvement allows timely specialist referral.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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