POR deficiency
ORPHA: 95699
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 POR deficiency, sourced from HPO and Orphanet clinical annotations.
Abnormal facial shapeAbnormal metacarpophalangeal joint morphologyMidface retrusionCraniosynostosisBrachycephalyTurricephalyAbnormal foot morphologyAbnormality of the handArachnodactylyClinodactylyCamptodactylyMetatarsal synostosisMetacarpal synostosisAbnormality of the wristRocker bottom footTalipesRadioulnar synostosisHumeroradial synostosisProximal tibial and fibular fusionTarsal synostosisAmbiguous genitaliaAbnormal external genitalia morphologyAbnormal female external genitalia morphologyIncreased size of the clitorisFused labia majoraAbnormal male external genitalia morphologyHypospadiasMicropenisIncreased circulating ACTH levelDecreased circulating cortisol levelAbnormal response to ACTH stimulation testElevated circulating 17-hydroxyprogesterone concentrationIncreased circulating progesteroneAbnormal circulating pregnenolone concentrationDecreased circulating dehydroepiandrosterone-sulfate concentrationDecreased circulating androgen concentrationAbnormal response to human chorionic gonadotrophin stimulation testHypertensionCryptorchidismPrimary amenorrheaEnlarged polycystic ovariesDelayed pubertyOligozoospermiaDecreased fertilityHirsutismAbnormality of the skeletal systemElbow ankylosisLimited elbow extensionElbow flexion contractureBowing of the long bonesFemoral bowingLong palmFlexion contractureTalipes equinovarusAbnormal rib morphologyAbnormal vertebral morphologyHypoplastic scapulaeScoliosisNarrow chestNarrow pelvis boneRadioulnar dislocationUlnar deviation of the wristDisproportionate tall statureAbnormal metacarpal epiphysis morphologyCubitus valgusShort metacarpalShortening of all distal phalanges of the fingersFrontal bossingWide anterior fontanelChoanal stenosisChoanal atresiaBulbous noseShort noseDepressed nasal bridgeNarrow mouthHigh, narrow palateAbnormal pinna morphologyLow-set earsStenosis of the external auditory canalConductive hearing impairmentHydrocephalusAbnormality of the urinary systemDilatation of the renal pelvisVesicoureteral refluxUnilateral renal agenesisGastroesophageal refluxConstipationAnteriorly placed anusAbnormal umbilical cord blood vessel morphologyChiari malformationMidfrontal capillary hemangiomaDelayed speech and language developmentDelayed fine motor developmentAbnormality of skeletal maturationAbnormal antihelix morphologyAbnormal earlobe morphologyLimitation of joint mobilityBrachydactylyIncreased circulating corticosterone levelElevated circulating luteinizing hormone levelElevated circulating follicle stimulating hormone levelDecreased serum estradiolDecreased circulating inhibin B concentrationAdrenal hyperplasiaAbnormal ovarian morphologyPolycystic ovaries
Classification & Codes
Orphanet Code
ORPHA:95699POR deficiency
| Orphanet | ORPHA:95699 |
| Treatments | 0 drug(s) |
| Symptoms on record | 106 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO