spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Findings
No curated finding names spondylometaphyseal dysplasia-cone-rod dystrophy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0012160), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
50 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.
- Abnormal macular pigmentationHPOHP:0008002
- 8 of 8 reported patients
- Bowing of the legsHPOHP:0002979
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Flared metaphysisHPOHP:0003015
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Metaphyseal cuppingHPOHP:0003021
- 8 of 8 reported patients
- Metaphyseal irregularityHPOHP:0003025
- 8 of 8 reported patients
- Very frequent (80% to 99% 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.
- PCYT1AHGNC:8754
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- Also called
- SMD-CRD