spondyloepiphyseal dysplasia, Holling type
MONDO:0979899Mondo
Findings
No curated finding names spondyloepiphyseal dysplasia, Holling type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Third trimester onset
HPO, annotations 2026-09-02
Features
26 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.
- Bowing of the legsHPOHP:0002979
- 1 of 1 reported patient
- Delayed ossification of carpal bonesHPOHP:0001216
- 1 of 1 reported patient
- Delayed ossification of pubic ramiHPOHP:0008785
- 2 of 2 reported patients
- Flat acetabular roofHPOHP:0003180
- 2 of 2 reported patients
- Genu valgumHPOHP:0002857
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
- Hypoplastic iliac wingHPOHP:0002866
- 2 of 2 reported patients
- Metaphyseal cuppingHPOHP:0003021
- 1 of 1 reported patient
- Narrow chestHPOHP:0000774
- 1 of 1 reported patient
- Narrow greater sciatic notchHPOHP:0003375
- 2 of 2 reported patients
- OligohydramniosHPOHP:0001562
- 1 of 1 reported patient
- Ovoid vertebral bodiesHPOHP:0003300
- 2 of 2 reported patients
Show the remaining 14
- Pectus excavatumHPOHP:0000767
- 1 of 1 reported patient
- PlatyspondylyHPOHP:0000926
- 2 of 2 reported patients
- Postnatal growth retardationHPOHP:0008897
- 1 of 1 reported patient
- Short 1st metacarpalHPOHP:0010034
- 1 of 1 reported patient
- Short femoral neckHPOHP:0100864
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
Where it sits
- A kind of