spondylometaphyseal dysplasia with corneal dystrophy
MONDO:0030074Mondo
Findings
No curated finding names spondylometaphyseal dysplasia with corneal dystrophy 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
- Death in childhood
HPO, annotations 2026-09-02
Features
22 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.
- Anteverted naresHPOHP:0000463
- 2 of 2 reported patients
- Beaking of vertebral bodiesHPOHP:0004568
- 2 of 2 reported patients
- BrachydactylyHPOHP:0001156
- 2 of 2 reported patients · Congenital onset
- Coarse metaphyseal trabecularizationHPOHP:0100670
- 2 of 2 reported patients
- Corneal opacityHPOHP:0007957
- 2 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- Increased intervertebral spaceHPOHP:0030320
- 2 of 2 reported patients
- Limb undergrowthHPOHP:0009826
- 2 of 2 reported patients · Congenital onset
- Lumbar platyspondylyHPOHP:0005787
- 2 of 2 reported patients
- Metaphyseal wideningHPOHP:0003016
- 2 of 2 reported patients
- Narrow chestHPOHP:0000774
- 2 of 2 reported patients · Congenital onset
Show the remaining 10
- Neonatal hypotoniaHPOHP:0001319
- 2 of 2 reported patients · Congenital onset
- Neonatal respiratory distressHPOHP:0002643
- 2 of 2 reported patients · Congenital onset
- Patent ductus arteriosusHPOHP:0001643
- 2 of 2 reported patients · Congenital onset
- ProptosisHPOHP:0000520
- 2 of 2 reported patients
- Short long boneHPOHP:0003026
- 2 of 2 reported patients
- Short noseHPOHP:0003196
- 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.
- PLCB3HGNC:9056
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: spondylometaphyseal dysplasia with corneal dystrophy
- Also called
- SMDCD