Chromosome 2p16.1-p15 Deletion Syndrome
Description
Chromosome 2p16.1-p15 deletion syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. Many patients have behavioral disorders, including autistic features, as well as structural brain abnormalities, such as pachygyria or hypoplastic corpus callosum. Those with deletions including the BCL11A gene (OMIM ) also have persistence of fetal hemoglobin (HbF), which is asymptomatic and does not affected hematologic parameters or susceptibility to infection (summary by Funnell et al., 2015).Point mutation in the BCL11A gene causes intellectual developmental disorder with persistence of fetal hemoglobin (OMIM ), which shows overlapping features.See also fetal hemoglobin quantitative trait locus-5 (HBFQTL5 ).
Clinical Features
Top most frequent phenotypes and symptoms related to Chromosome 2p16.1-p15 Deletion Syndrome
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Pica
- Hearing impairment
- Microcephaly
- Scoliosis
- Hypertelorism
Incidence and onset information
— Not enough data available about incidence and published cases.
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Alternate names
Chromosome 2p16.1-p15 Deletion Syndrome Is also known as ;2p15-p16.1 microdeletion syndrome; del(2)(p15p16.1); monosomy 2p15-p16.1; monosomy 2p15p16.1.
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