rhizomelic chondrodysplasia punctata type 1
Findings
No curated finding names rhizomelic chondrodysplasia punctata type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.
Definition from the Mondo Disease Ontology (MONDO:0008972), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Elevated circulating phytanic acid concentrationHPOHP:0010571
- Childhood onset
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.
- PEX7HGNC:8860
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
6 names
Resolves to: rhizomelic chondrodysplasia punctata type 1
- Also called
- PBD9peroxisome biogenesis disorder 9PEX7 rhizomelic chondrodysplasia punctataRCDP1rhizomelic chondrodysplasia punctata caused by mutation in PEX7rhizomelic chondrodysplasia punctata, type 1