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16p11.2p12.2 microdeletion syndrome
Disease definition
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
ORPHA:261211
Classification level: Disorder- Synonym(s):
- Del(16)(p11.2p12.2)
- Monosomy 16p11.2p12.2
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable or Unknown
- Age of onset: Infancy, Neonatal
- ICD-10: Q93.5
- OMIM: 613604
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
It has been clinically and molecularly characterized in 5 patients.
Clinical description
Facial features include flat facies, downslanting palpebral fissures, low-set and malformed ears. Orofacial clefting, heart defects, short stature, feeding difficulties and hypotonia can be observed.
Etiology
This syndrome is caused by an interstitial deletion encompassing 16p11.2-p12.2. These deletions arise de novo and are flanked by segmental duplications suggesting that the underlying mechanism is non-allelic homologous recombination (NAHR). They were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH).
Detailed information
Professionals
- Summary information
- Japanese (2019, pdf)
- Greek (2011, pdf)
- Polski (2011, pdf)
Additional information