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Chromosome 8q21.11 deletion syndrome
rareHeterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.
- Identifiers
- MONDO:0013646 OMIM:614230Orphanet:284160
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPartial deletion of the long arm of chromosome 8
- Also known as
- 8q21.11 microdeletion syndrome · chromosome 8q21.11 deletion syndrome, isolated cases · Del(8)(q21.11) · deletion 8q21.11 · monosomy 8q21.11
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