camptodactyly syndrome, Guadalajara type 3
Findings
No curated finding names camptodactyly syndrome, Guadalajara type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.
Definition from the Mondo Disease Ontology (MONDO:0012759), read 2026-09-29. CC BY 4.0.
Features
27 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.
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Frequent (30% to 79% of cases)
- Abnormal skull morphologyHPOHP:0000929
- Frequent (30% to 79% of cases)
- Broad columellaHPOHP:0010761
- Frequent (30% to 79% of cases)
- Broad femoral neckHPOHP:0006429
- Frequent (30% to 79% of cases)
- Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
- Delayed skeletal maturation
Show the remaining 15
- Numerous neviHPOHP:0001054
- Frequent (30% to 79% of cases)
- OsteopeniaHPOHP:0000938
- Frequent (30% to 79% of cases)
- RetrognathiaHPOHP:0000278
- Frequent (30% to 79% of cases)
- Short footHPOHP:0001773
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
- Small handHPOHP:0200055
- Frequent (30% to 79% of cases)