lethal Kniest-like dysplasia
MONDO:0009498Mondo
Findings
No curated finding names lethal Kniest-like dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.
Definition from the Mondo Disease Ontology (MONDO:0009498), read 2026-09-29. CC BY 4.0.
Features
27 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 cartilage matrixHPOHP:0008178
- Frequent (30% to 79% of cases)
- Abnormal cartilage morphologyHPOHP:0002763
- Frequent (30% to 79% of cases)
- Abnormal ischium morphologyHPOHP:0003174
- Frequent (30% to 79% of cases)
- Anterior rib cuppingHPOHP:0000907
- Frequent (30% to 79% of cases)
- Atrial septal defectHPOHP:0001631
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Breech presentationHPOHP:0001623
- Frequent (30% to 79% of cases)
- Broad long bonesHPOHP:0005622
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Coronal cleft vertebraeHPOHP:0003417
- Frequent (30% to 79% of cases)
- EdemaHPOHP:0000969
- Frequent (30% to 79% of cases)
- Flared metaphysisHPOHP:0003015
- Frequent (30% to 79% of cases)
Show the remaining 15
- Flat faceHPOHP:0012368
- Frequent (30% to 79% of cases)
- Hypoplastic iliaHPOHP:0000946
- Frequent (30% to 79% of cases)
- Hypoplastic vertebral bodiesHPOHP:0008479
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
- Mesomelic/rhizomelic limb shorteningHPOHP:0005026
- Frequent (30% to 79% of cases)
Where it sits
- A kind of