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2p15p16.1 microdeletion syndrome
Disease definition
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
ORPHA:261349
Classification level: Disorder- Synonym(s):
- Del(2)(p15p16.1)
- Monosomy 2p15p16.1
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Infancy, Neonatal
- ICD-10: Q93.5
- OMIM: 612513
- UMLS: C4304538
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
It has been clinically and molecularly characterized in 5 patients.
Clinical description
Dysmorphic features include receding forehead, telecanthus, epicanthic fold, short and down-slanting palpebral fissures, ptosis, broad and high nasal bridge, retrognathia, flat philtrum, small mouth with high, narrow palate and everted lower lip. Ophthalmologic examination in 4 patients revealed bilateral optic atrophy/hypoplasia. Microcephaly, short stature, genitourinary abnormalities and behavioral problems are common.
Etiology
This syndrome is caused by an interstitial deletion 2p15p16.1 (present in mosaic in one patient). These de novo deletions were characterized by comparative genomic hybridisation (CGH) microarray and fluorescence in situ hybridization (FISH). They have a variable size from 570 kb to 5.7 Mb and encompass several genes. Haploinsufficiency of these genes could contribute to the phenotype.
A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Polski (2011, pdf) Japanese (2011, pdf)
Detailed information
General public
- Article for general public
- Nederlands (2013, pdf) - Unique
- English (2018, pdf) - Unique
- Chinese (2018, pdf) - Unique
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produced/endorsed by FSMR(s)Additional information