absence deformity of leg-cataract syndrome
Findings
No curated finding names absence deformity of leg-cataract syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.
Definition from the Mondo Disease Ontology (MONDO:0009516), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 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 epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal femur morphologyHPOHP:0002823
- Very frequent (80% to 99% of cases)
- Abnormality of the lower limbHPOHP:0002814
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- HyperlordosisHPOHP:0003307
- Very frequent (80% to 99% of cases)
- Lower limb undergrowthHPOHP:0009816
- Very frequent (80% to 99% of cases)
Show the remaining 3
- Optic nerve dysplasiaHPOHP:0001093
- Progressive cataractHPOHP:0007834
- Congenital onset
- Spondyloepiphyseal dysplasiaHPOHP:0002655