spondyloepimetaphyseal dysplasia, Genevieve type
Findings
No curated finding names spondyloepimetaphyseal dysplasia, Genevieve type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.
Definition from the Mondo Disease Ontology (MONDO:0012495), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 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.
- Short statureHPOHP:0004322
- 9 of 9 reported patients
- Cerebral atrophyHPOHP:0002059
- 4 of 6 reported patients
- Perisylvian polymicrogyriaHPOHP:0012650
- 1 of 6 reported patients
- Reduced cerebral white matter volumeHPOHP:0034295
- 1 of 6 reported patients
- Advanced ossification of carpal bonesHPOHP:0004233
- Bulbous noseHPOHP:0000414
- Depressed nasal bridgeHPOHP:0005280
Show the remaining 3
- Small epiphysesHPOHP:0010585
- SynophrysHPOHP:0000664
- Thick vermilion borderHPOHP:0012471
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.
- NANSHGNC:19237
- Definitive · ClinGen · Autosomal recessive · 2026
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: spondyloepimetaphyseal dysplasia, Genevieve type
- Also called
- SEMD, Geneviève typeSEMDGspondyloepimetaphyseal dysplasia, Camera-Genevieve type