Carpenter syndrome
Findings
No curated finding names Carpenter syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.
Definition from the Mondo Disease Ontology (MONDO:0019012), read 2026-09-29. CC BY 4.0.
Features
40 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.
- BrachydactylyHPOHP:0001156
- Obligate (100% of cases)
- Finger syndactylyHPOHP:0006101
- Obligate (100% of cases)
- Toe syndactylyHPOHP:0001770
- Obligate (100% of cases)
- Abnormal skull morphologyHPOHP:0000929
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- CraniosynostosisHPOHP:0001363
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- External genital hypoplasiaHPOHP:0003241
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
Show the remaining 28
- Narrow faceHPOHP:0000275
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- Very frequent (80% to 99% of cases)
- OxycephalyHPOHP:0000263
- Very frequent (80% to 99% of cases)
- PlagiocephalyHPOHP:0001357
- Very frequent (80% to 99% of cases)
- PolydactylyHPOHP:0010442
- Very frequent (80% to 99% of cases)
- Prominent metopic ridgeHPOHP:0005487
- Very frequent (80% to 99% of cases)
Genes
2 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.
Where it sits
Other names
5 names
Resolves to: Carpenter syndrome
- Also called
- ACPS2acrocephalopolysyndactyly type 2acrocephalopolysyndactyly type IICarpenter 's syndrometype II Acrocephalopolysyndactyly