Emanuel syndrome

emanuel syndrome
* This composite image of Emanuel Syndrome was created to help geneticists get a better analysis

What is Emanuel syndrome?

Emanuel syndrome is a rare chromosomal condition, believed to have been diagnosed in more than 100 people to date.

Some of its symptoms may be life-threatening in infancy. Severe to profound intellectual disability is one of the most prominent symptoms of the syndrome.

Syndrome Synonyms:
Supernumerary Der(22)t(11;22) Syndrome

What gene change causes Emanuel syndrome?

The syndrome is caused by the extra genetic material of part of chromosomes 11 and 22, a product of unbalanced translocation.

Parents are carriers of balanced translocations between chromosomes 11 and 22 without loss or gain of genetic material, but in meiosis (generation of gametes or reproductive cells) these translocations lead to unbalanced cells, which have gain of genetic material from chromosomes 11 and 22.

What are the main symptoms of Emanuel syndrome?

  • In infancy, the main symptoms include weak muscle tone and failure to thrive due to feeding difficulties.
  • Congenital heart defects and or very small kidneys in an individual can be life-threatening to an infant.
  • Severe developmental delay and profound intellectual disability are characteristic of the syndrome.
  • Physical features of the condition include a very small head and jaw, and ear issues. Over 50% of affected individuals are born with a cleft or elevated palate.

Supernumerary Der(22)t(11;22) Syndrome
Patent ductus arteriosus, Preauricular skin tag, Truncus arteriosus, Renal agenesis, Recurrent otitis media, Thickened nuchal skin fold, Renal hypoplasia, Seizure, Single umbilical artery, Hypoplasia of the corpus callosum, Delayed speech and language development, Hearing impairment, High palate, Gastroesophageal reflux, Global developmental delay, Kyphosis, Constipation, Congenital hip dislocation, Congenital diaphragmatic hernia, Low hanging columella, Delayed eruption of primary teeth, Dental crowding, Deeply set eye, Cryptorchidism, Facial asymmetry, Feeding difficulties in infancy, Muscular hypotonia, Preauricular pit, Macrotia, Abnormality of metabolism/homeostasis, Myopia, Low-set ears, Long philtrum, Low-set nipples, Intrauterine growth retardation, Intellectual disability, Inguinal hernia, Micropenis, Micrognathia, Pulmonic stenosis, Ventricular septal defect, Microcephaly, Strabismus, Upslanted palpebral fissure, Broad jaw, Scoliosis, Recurrent respiratory infections, Aortic valve stenosis.

How is it diagnosed?

To find out if someone has a diagnosis of Emanuel syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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emanuel syndrome
* This composite image of Emanuel Syndrome was created to help geneticists get a better analysis

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