Orphanet: Mosaic trisomy 22
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Mosaic trisomy 22

Disease definition

Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.

ORPHA:96068

  • Synonym(s):
    • Mosaic trisomy chromosome 22
    • Trisomy 22 mosaicism
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q92.1
  • OMIM: -
  • UMLS: C2931326  C2931327
  • MeSH: C536796
  • GARD: 6085
  • MedDRA: -

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.