microcephalic osteodysplastic primordial dwarfism type I
ORPHA: 2636
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 microcephalic osteodysplastic primordial dwarfism type I, sourced from HPO and Orphanet clinical annotations.
HydroureterAbnormality of the kidneyAbnormality of the urinary systemHydronephrosisMicrocephalyProminent occiputRetrognathiaMicrognathiaPosteriorly rotated earsLow-set earsBulbous noseProminent noseShort neckGlaucomaProptosisAbnormality of the skeletal systemOsteopeniaOsteoporosisAbnormal metaphysis morphologyBrachydactylyAbnormal finger morphologyLarge handsIntellectual disabilitySeizureSpasticityGlobal developmental delayHypertoniaSpecific learning disabilityIntrauterine growth retardationAlopeciaPremature birthRigidityDyspneaGeneralized non-motor (absence) seizureStatus epilepticusRicketsOsteomalaciaDelayed skeletal maturationRespiratory failureMicromeliaAbnormal pubic bone morphologyLong noseAbnormal form of the vertebral bodiesSevere short statureMuscle stiffnessShort palmAbnormal intervertebral disk morphologyAplasia/hypoplasia of the femurAbnormal metacarpal morphologyAplastic clavicleBilateral single transverse palmar creasesSparse hairLarge iliac wingAbnormal distal phalanx morphology of fingerBroad distal phalanx of fingerBifid femurAbnormality of the upper urinary tractEpileptic spasmLoss of eyelashesThin eyebrowAbnormal circulating calcium-phosphate regulating hormone concentrationAbnormally ossified vertebraeCryptorchidismCleft palateSubmucous cleft hard palateBifid uvulaDolichocephalyMalar flatteningSloping foreheadThickened nuchal skin foldDownslanted palpebral fissuresClinodactyly of the 5th fingerAbnormal tragus morphologyThick vermilion border
Classification & Codes
Orphanet Code
ORPHA:2636microcephalic osteodysplastic primordial dwarfism type I
| Orphanet | ORPHA:2636 |
| Treatments | 0 drug(s) |
| Symptoms on record | 74 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO