heart defects-limb shortening syndrome
Findings
No curated finding names heart defects-limb shortening syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.
Definition from the Mondo Disease Ontology (MONDO:0008917), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
13 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 metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Accelerated skeletal maturationHPOHP:0005616
- Very frequent (80% to 99% of cases)
- Atrial septal defectHPOHP:0001631
- Very frequent (80% to 99% of cases)
- Disproportionate short statureHPOHP:0003498
- Very frequent (80% to 99% of cases)
- Mesomelic/rhizomelic limb shorteningHPOHP:0005026
- Very frequent (80% to 99% of cases)
Show the remaining 1
- KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: heart defects-limb shortening syndrome
- Also called
- heart defect and limb shortening syndrome