Coffin-Siris syndrome
Findings
No curated finding names Coffin-Siris syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
Definition from the Mondo Disease Ontology (MONDO:0015452), read 2026-09-29. CC BY 4.0.
Features
65 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- HypertrichosisHPOHP:0000998
- Very frequent (80% to 99% of cases)
- Prominent eyelashesHPOHP:0011231
- Very frequent (80% to 99% of cases)
- Small nailHPOHP:0001792
- Very frequent (80% to 99% of cases)
- Thick eyebrowHPOHP:0000574
- Very frequent (80% to 99% of cases)
- Thick lower lip vermilionHPOHP:0000179
- Very frequent (80% to 99% of cases)
- Wide mouthHPOHP:0000154
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Frequent (30% to 79% of cases)
- Abnormality of the genitourinary systemHPOHP:0000119
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
Show the remaining 53
- Aspiration pneumoniaHPOHP:0011951
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
- Broad philtrumHPOHP:0000289
- Frequent (30% to 79% of cases)
- ClinodactylyHPOHP:0030084
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
Genes
12 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARID1AHGNC:11110
- Definitive · ClinGen · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- ARID1BHGNC:18040
- Definitive · ClinGen · Autosomal dominant · 2019
- Definitive · Illumina · Autosomal dominant · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
- ARID2HGNC:18037
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Illumina · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- BICRAHGNC:4332
- · ClinGen · Autosomal dominant · 2024
Where it sits
- A kind of
- Narrower terms (11)
- Coffin-Siris syndrome 1
- Coffin-Siris syndrome 10
- Coffin-Siris syndrome 11
- Coffin-Siris syndrome 12
- Coffin-Siris syndrome 5
- Coffin-Siris syndrome 7
- Coffin-Siris syndrome 8
- intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
- intellectual disability, autosomal dominant 14
- intellectual disability, autosomal dominant 15
- intellectual disability, autosomal dominant 16
Other names
1 name
Resolves to: Coffin-Siris syndrome
- Also called
- CSS