Orphanet: Distal 22q11.2 microduplication syndrome

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Distal 22q11.2 microduplication syndrome

Disease definition

A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from as asymptomatic parent.

ORPHA:261337

Classification level: Disorder

Synonym(s):
- Distal dup(22)(q11.2)
- Distal trisomy 22q11.2
Prevalence: Unknown
Inheritance: Autosomal dominant
Age of onset: Antenatal, Infancy, Childhood, Neonatal
ICD-10: Q92.3
OMIM: -
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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Distal 22q11.2 microduplication syndrome

ORPHA:261337

A summary on this disease is available in Italiano (2017) Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

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