ring chromosome 13
MeSH: C538303ORPHA: 96176
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 ring chromosome 13, sourced from HPO and Orphanet clinical annotations.
MicrocephalyGrowth delayAbnormal facial shapeSevere intellectual disabilityHypospadiasBifid scrotumMicropenisAmbiguous genitaliaHypertelorismMacrotiaWide nasal bridgeAnteverted naresPrimary hypothyroidismSkeletal dysplasiaDepressed nasal bridgeAplasia/hypoplasia involving bones of the handHigh palateTrigonocephalyEpicanthusShort philtrumMicrognathiaPosteriorly rotated earsShort neckAbnormality of the incisorAutismCafe-au-lait spotAbnormality of skin pigmentationGeneralized hypotoniaAlopeciaFrontal bossingAnal atresiaAnencephalyAplasia/Hypoplasia of the thumbAbsent footAbnormal renal physiologyPartial absence of footUrogenital sinus anomalyAbnormal retinal morphologyAgenesis of corpus callosumAbnormality of the coagulation cascadeHypoplasia of the gallbladderRetinoblastoma
Classification & Codes
MeSH Code
C538303Orphanet Code
ORPHA:96176ring chromosome 13
| MeSH | C538303 |
| Orphanet | ORPHA:96176 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO