ORPHA:251061
7q31 microdeletion syndrome
Also called Del(7)(q31), Monosomy 7q31
- Body system
- Neurological diseases
- Inheritance pattern
- Not applicable, Unknown
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
About this disease
7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.
Definition from Orphanet.
Common signs
- Delayed speech and language development
- Speech apraxia
- Recurrent ear infections
- Wide mouth
- Macrocephaly
- Epicanthus
Learn more
Source: Orphanet (Orphadata), ORPHA:251061. Data release 2026-06-23. www.orphadata.com — CC BY 4.0.