spondyloepimetaphyseal dysplasia, sponastrime type
Findings
No curated finding names spondyloepimetaphyseal dysplasia, sponastrime type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.
Definition from the Mondo Disease Ontology (MONDO:0010068), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
81 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.
- Disproportionate short-limb short statureHPOHP:0008873
- 8 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Metaphyseal irregularityHPOHP:0003025
- 8 of 9 reported patients
- Frequent (30% to 79% of cases)
- PlatyspondylyHPOHP:0000926
- 8 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormality of the vertebral columnHPOHP:0000925
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
Show the remaining 69
- Metaphyseal striationsHPOHP:0031367
- Frequent (30% to 79% of cases)
- RhizomeliaHPOHP:0008905
- 3 of 9 reported patients
- Frequent (30% to 79% of cases)
- Short femoral neckHPOHP:0100864
- Frequent (30% to 79% of cases)
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
- Metaphyseal wideningHPOHP:0003016
- 4 of 9 reported patients
- Occasional (5% to 29% of cases)
- Anteverted naresHPOHP:0000463
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TONSLHGNC:7801
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: spondyloepimetaphyseal dysplasia, sponastrime type
- Also called
- sponastrime dysplasiaspondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasiaspondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia