camptodactyly syndrome, Guadalajara type 1
MONDO:0008898Mondo
Findings
No curated finding names camptodactyly syndrome, Guadalajara type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.
Definition from the Mondo Disease Ontology (MONDO:0008898), read 2026-09-29. CC BY 4.0.
Features
47 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 vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Abnormality of dental eruptionHPOHP:0006292
- Very frequent (80% to 99% of cases)
- Attached earlobeHPOHP:0009907
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Dental malocclusionHPOHP:0000689
- Very frequent (80% to 99% of cases)
- Flat faceHPOHP:0012368
- Very frequent (80% to 99% of cases)
- MicrotiaHPOHP:0008551
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
- Open biteHPOHP:0010807
- Very frequent (80% to 99% of cases)
- Pectus carinatumHPOHP:0000768
- Very frequent (80% to 99% of cases)
- Pectus excavatumHPOHP:0000767
- Very frequent (80% to 99% of cases)
- TelecanthusHPOHP:0000506
- Very frequent (80% to 99% of cases)
Show the remaining 35
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- BrachycephalyHPOHP:0000248
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Cubitus valgusHPOHP:0002967
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)