Hypoplastic fifth digit nails with coarse facies and intellectual disability.
- Specialty
- Genetics
- Subspecialty
- Genetics / Single-gene syndromes
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes
- Gene(s) involved
- ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1, SOX11
- Alternative names & eponyms
- Fifth digit syndrome
Etiology & mechanism
SWI/SNF chromatin remodeling complex defect.
Gene(s) involved (8)
Symptoms & signs (6)
In plain terms, someone with Coffin–Siris syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Costello syndrome
coarse facies, feeding difficulty, intellectual disability
2 shared
Allan–Herndon–Dudley syndrome
hypotonia, intellectual disability
2 shared
Börjeson–Forssman–Lehmann syndrome
coarse facies, intellectual disability
2 shared
Borjeson–Forssman–Lehmann syndrome
coarse facies, intellectual disability
2 shared
Coffin–Lowry syndrome
coarse facies, intellectual disability
2 shared
Cohen syndrome
hypotonia, intellectual disability
2 shared
Congenital myasthenic syndrome
feeding difficulty, hypotonia
2 shared
Cri du chat syndrome
hypotonia, intellectual disability
2 shared
Crigler–Najjar syndrome
hypotonia, intellectual disability
2 shared
Down syndrome
hypotonia, intellectual disability
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