spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Findings
No curated finding names spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.
Definition from the Mondo Disease Ontology (MONDO:0010075), read 2026-09-29. CC BY 4.0.
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.
- Flared metaphysisHPOHP:0003015
- 7 of 7 reported patients
- Hyperplasia of the femoral trochantersHPOHP:0002822
- 7 of 7 reported patients
- Hypoplastic iliac bodyHPOHP:0008824
- 7 of 7 reported patients
- KyphoscoliosisHPOHP:0002751
- 7 of 7 reported patients
- PlatyspondylyHPOHP:0000926
- 7 of 7 reported patients · Childhood onset
- Severe short statureHPOHP:0003510
- 7 of 7 reported patients
- Short metacarpalHPOHP:0010049
- 5 of 5 reported patients
- Flat faceHPOHP:0012368
- 4 of 5 reported patients
- Prominent foreheadHPOHP:0011220
- 4 of 5 reported patients
- Beaking of vertebral bodiesHPOHP:0004568
- 5 of 7 reported patients
- Limited elbow movementHPOHP:0002996
- 4 of 6 reported patients
- Blue scleraeHPOHP:0000592
- 3 of 5 reported patients
Show the remaining 14
- Long upper lipHPOHP:0011341
- 3 of 5 reported patients
- ProptosisHPOHP:0000520
- 3 of 5 reported patients
- MicrognathiaHPOHP:0000347
- 4 of 7 reported patients
- Spatulate thumbsHPOHP:0001222
- 3 of 6 reported patients
- Finger joint hypermobilityHPOHP:0006094
- 2 of 5 reported patients
- Hyperextensible skinHPOHP:0000974
- 2 of 5 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.
- B3GALT6HGNC:17978
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
- Also called
- B3GALT6 spondyloepimetaphyseal dysplasia with joint laxitySEMDJL1spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6spondyloepimetaphyseal dysplasia with joint laxity, Beighton type