spondyloepimetaphyseal dysplasia, Maroteaux type
Findings
No curated finding names spondyloepimetaphyseal dysplasia, Maroteaux type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.
Definition from the Mondo Disease Ontology (MONDO:0008473), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
17 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.
- Generalized osteoporosisHPOHP:0040160
- 7 of 7 reported patients
- Genu valgumHPOHP:0002857
- 7 of 7 reported patients
- PlatyspondylyHPOHP:0000926
- 7 of 7 reported patients
- Short femoral neckHPOHP:0100864
- 7 of 7 reported patients
- Short palmHPOHP:0004279
- 7 of 7 reported patients
- Short statureHPOHP:0004322
- 7 of 7 reported patients
- Spondyloepiphyseal dysplasiaHPOHP:0002655
Show the remaining 5
- Shield chestHPOHP:0000914
- 1 of 7 reported patients
- Small joint hypermobilityHPOHP:0430046
- 1 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 2 reported patients
- MucopolysacchariduriaHPOHP:0008155
- 0 of 2 reported patients
- Opacification of the corneal stromaHPOHP:0007759
- 0 of 2 reported patients
Where it sits
Other names
4 names
Resolves to: spondyloepimetaphyseal dysplasia, Maroteaux type
- Also called
- pseudo-Morquio syndrome type 2SED, Maroteaux typespondyloepiphyseal dysplasia Maroteaux typespondyloepiphyseal dysplasia, Maroteaux type