camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
Findings
No curated finding names camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).
Definition from the Mondo Disease Ontology (MONDO:0011262), read 2026-09-29. CC BY 4.0.
Features
22 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 calvaria morphologyHPOHP:0002683
- Very frequent (80% to 99% of cases)
- Abnormal hip bone morphologyHPOHP:0003272
- Very frequent (80% to 99% of cases)
- Asymmetric growthHPOHP:0100555
- Very frequent (80% to 99% of cases)
- Biparietal narrowingHPOHP:0004422
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Facial asymmetryHPOHP:0000324
- Very frequent (80% to 99% of cases)
Show the remaining 10
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
- Narrow palateHPOHP:0000189
- Very frequent (80% to 99% of cases)
- ProptosisHPOHP:0000520
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)