upper limb defect-eye and ear abnormalities syndrome
Findings
No curated finding names upper limb defect-eye and ear abnormalities syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.
Definition from the Mondo Disease Ontology (MONDO:0010125), read 2026-09-29. CC BY 4.0.
Features
12 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 antihelix morphologyHPOHP:0009738
- Very frequent (80% to 99% of cases)
- Chorioretinal colobomaHPOHP:0000567
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Hypoplasia of the antihelixHPOHP:0009739
- Very frequent (80% to 99% of cases)