Fraser syndrome
MeSH: D058497ORPHA: 2052
Overview
autosomal recessive congenital disorder
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 Fraser syndrome, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsAbnormal pinna morphologyTracheal stenosisCleft ala nasiVertebral segmentation defectMidline nasal grooveEctopic anusWide intermamillary distanceMicrotiaAbnormal hair patternAbnormal cardiovascular system morphologyAbnormal rib morphologyWide pubic symphysisLimb undergrowthAbnormality of the urinary systemBlindnessCryptophthalmosFinger syndactylyLacrimal duct aplasiaMalformed lacrimal ductRenal hypoplasia/aplasiaCutaneous syndactylySmall scrotumAmbiguous genitaliaAbnormal vagina morphologyVaginal atresiaHypertelorismAbnormality of the outer earAbnormality of the middle earAnophthalmiaMicrophthalmiaDental crowdingDental malocclusionLaryngeal stenosisToe syndactylyAnal atresiaAnal stenosisAbnormal nasal morphologyDepressed nasal bridgeHypoplasia of penisLaryngeal hypoplasiaBifid tongueFemale pseudohermaphroditismAnorectal anomalyCryptorchidismHypospadiasUrethral atresiaOrofacial cleftCleft upper lipHigh palateMicrocephalyConductive hearing impairmentAtresia of the external auditory canalUnderdeveloped nasal alaeWide nasal bridgeBicornuate uterusIntellectual disabilityCalvarial skull defectUmbilical herniaOmphaloceleSubglottic stenosisEncephalocelePulmonary hypoplasiaAbnormal lung lobationMyelomeningocele
Classification & Codes
MeSH Code
D058497Orphanet Code
ORPHA:2052Fraser syndrome
| MeSH | D058497 |
| Orphanet | ORPHA:2052 |
| Treatments | 0 drug(s) |
| Symptoms on record | 65 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO