spondyloepimetaphyseal dysplasia, Shohat type
Findings
No curated finding names spondyloepimetaphyseal dysplasia, Shohat type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
Definition from the Mondo Disease Ontology (MONDO:0011252), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Antenatal onset
HPO, annotations 2026-09-02
Features
38 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
- 7 of 7 reported patients
- Limb undergrowthHPOHP:0009826
- 7 of 7 reported patients · Antenatal onset
- Occasional (5% to 29% of cases)
- Short neckHPOHP:0000470
- 7 of 7 reported patients
- Occasional (5% to 29% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Frequent (30% to 79% of cases)
- Abnormal vertebral morphologyHPOHP:0003468
- Frequent (30% to 79% of cases)
- ArthralgiaHPOHP:0002829
- Frequent (30% to 79% of cases)
Show the remaining 26
- Premature osteoarthritisHPOHP:0003088
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Severe short statureHPOHP:0003510
- Frequent (30% to 79% of cases)
- Short long boneHPOHP:0003026
- Frequent (30% to 79% of cases)
- Thoracic hypoplasiaHPOHP:0005257
- Frequent (30% to 79% of cases)
- Abdominal distentionHPOHP:0003270
- Occasional (5% to 29% of cases)
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.
- DDRGK1HGNC:16110
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: spondyloepimetaphyseal dysplasia, Shohat type
- Also called
- SEMD, Shohat type