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16p11.2p12.2 microdeletion syndrome
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
ORPHA:261211Classification level: Disorder
- 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: -
It has been clinically and molecularly characterized in 5 patients.
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.
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).