metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
MeSH: C565398ORPHA: 166035
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, sourced from HPO and Orphanet clinical annotations.
Retinal degenerationAbnormality of the nervous systemBrachydactylyAbnormal facial shapeShort statureRod-cone dystrophyNyctalopiaDelayed speech and language developmentIntellectual disabilityGlobal developmental delayFeeding difficultiesInguinal herniaCryptorchidismHorseshoe kidneyRenal cystMicrognathiaLow-set earsMacrotiaUnderdeveloped nasal alaeDownslanted palpebral fissuresAbnormal electroretinogramAbsent eyelashesAbnormality of the endocrine systemCafe-au-lait spotVisual field defectNeonatal hypotoniaCraniosynostosisIntrauterine growth retardationAlopeciaVentricular septal defectPes planusSmall nailHallux valgusFrontal bossingCerebral cortical atrophyDelayed gross motor developmentAbsent eyebrowModerate intellectual disabilityAbnormal vena cava morphologyMetaphyseal chondrodysplasiaChiari type I malformationIchthyosisShort metacarpalBroad columellaHeart murmurAbnormality of pattern visual evoked potentials
Classification & Codes
MeSH Code
C565398Orphanet Code
ORPHA:166035metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
| MeSH | C565398 |
| Orphanet | ORPHA:166035 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO