metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
MONDO:0009598Mondo
Findings
No curated finding names metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 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
- Congenital onset · Juvenile onset · Childhood onset · Antenatal onset
HPO, annotations 2026-09-02
Features
59 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.
- MacrocephalyHPOHP:0000256
- 2 of 2 reported patients
- NyctalopiaHPOHP:0000662
- 3 of 3 reported patients · Juvenile onset
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- 9 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Retinal degenerationHPOHP:0000546
- 9 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- 8 of 10 reported patients
- Occasional (5% to 29% of cases)
- Frontal bossingHPOHP:0002007
- 8 of 10 reported patients
- Occasional (5% to 29% of cases)
- Low-set earsHPOHP:0000369
- 8 of 10 reported patients
- Occasional (5% to 29% of cases)
- MacrotiaHPOHP:0000400
- 8 of 10 reported patients
- Occasional (5% to 29% of cases)
- MicrognathiaHPOHP:0000347
- 8 of 10 reported patients
- Occasional (5% to 29% of cases)
- Short statureHPOHP:0004322
- 6 of 10 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 47
- Underdeveloped nasal alaeHPOHP:0000430
- 8 of 10 reported patients
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 3 of 10 reported patients
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- 2 of 10 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 4 of 10 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 4 of 10 reported patients
- Frequent (30% to 79% 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.
- CWC27HGNC:10664
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023