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Coffin-Siris syndrome; fifth digit syndrome
Genetics:
- usually occurs for first time in a family due to a new mutation
- autosomal dominant
- mutations in ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1
Clinical manifestations:
- variable learning disability, developmental delay
- underdeveloped toenails or fingernails
- distinct facial features
- wide mouth, thick lips, thick eyelashes & brows, wide nose, & flat nasal bridge
- extra hair growth on the face & body
- sparse scalp hair
Management:
- occupational therapy, physical therapy, &/or speech therapy
General
genetic syndrome (multisystem disorder)
References
- Coffin-Siris syndrome
Genetic and Rare Diseases Information Center (GARD)
https://rarediseases.info.nih.gov/diseases/6124/coffin-siris-syndrome
- Coffin-Siris syndrome
National Organization for Rare Diseases (NORD)
https://rarediseases.org/rare-diseases/coffin-siris-syndrome/
- Coffin-Siris syndrome
https://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome