regressive spondylometaphyseal dysplasia
MONDO:0018663Mondo
Findings
No curated finding names regressive spondylometaphyseal dysplasia 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
- Congenital onset
HPO, annotations 2026-09-02
Features
45 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.
- Bowed humerusHPOHP:0003865
- 2 of 2 reported patients
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- Disproportionate short-limb short statureHPOHP:0008873
- 2 of 2 reported patients
- Femoral bowingHPOHP:0002980
- 2 of 2 reported patients
- Flared metaphysisHPOHP:0003015
- 3 of 3 reported patients
- Genu valgumHPOHP:0002857
- 1 of 1 reported patient
- Horizontal ribsHPOHP:0000888
- 2 of 2 reported patients
- HyperlordosisHPOHP:0003307
- 2 of 2 reported patients
- Hyposegmentation of neutrophil nucleiHPOHP:0011447
- 2 of 2 reported patients
- Knee flexion contractureHPOHP:0006380
- 1 of 1 reported patient
- Limited elbow extensionHPOHP:0001377
- 1 of 1 reported patient
Show the remaining 33
- Metaphyseal cuppingHPOHP:0003021
- 1 of 1 reported patient
- Metaphyseal dysplasiaHPOHP:0100255
- 1 of 1 reported patient
- Metaphyseal irregularityHPOHP:0003025
- 1 of 1 reported patient
- Mild short statureHPOHP:0003502
- 1 of 1 reported patient
- Ovoid vertebral bodiesHPOHP:0003300
- 1 of 1 reported patient
- PlatyspondylyHPOHP:0000926
- 2 of 2 reported patients
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.
- LBRHGNC:6518
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · ClinGen · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: regressive spondylometaphyseal dysplasia
- Also called
- Pelger-Huet anomaly with mild skeletal anomalies