microcephalic osteodysplastic primordial dwarfism type II
MeSH: C565898ORPHA: 26371 Treatment Available
Overview
Human disease
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Growth hormone (somatropin) Orphan Cold Chain | Subcutaneous injection, 5mg, 12mg cartridges | FDA Approved | 8 | 14d |
Clinical Presentation
Signs and symptoms associated with microcephalic osteodysplastic primordial dwarfism type II, sourced from HPO and Orphanet clinical annotations.
Abnormal female external genitalia morphologyMicrocephalyRetrognathiaFull cheeksLow-set earsSensorineural hearing impairmentUnderdeveloped nasal alaeWide nasal bridgeProminent noseDownslanted palpebral fissuresMicrodontiaPrecocious pubertyAbnormal metaphysis morphologyDry skinHypopigmented skin patchesBrachydactylyIntellectual disabilitySeizureGlobal developmental delayStrokeIntrauterine growth retardationLaryngomalaciaHypernasal speechAbnormally high-pitched voiceAtrial septal defectPatent ductus arteriosusAnemiaTruncal obesityHypoplasia of the corpus callosumVentriculomegalyRecurrent respiratory infectionsFine hairVascular dilatationScoliosisDelayed skeletal maturationTracheal stenosisCoxa varaHypoplastic iliac wingMicromeliaNarrow pelvis boneDisproportionate short statureClinodactyly of the 5th fingerAbnormal epiphysis morphologyAttention deficit hyperactivity disorderMultiple cafe-au-lait spotsTooth agenesisAplasia/Hypoplasia of the earlobesNarrow palpebral fissureArterial stenosisAbnormal cerebral vascular morphologyAplasia/Hypoplasia of the eyebrowJoint hypermobility
Classification & Codes
MeSH Code
C565898Orphanet Code
ORPHA:2637microcephalic osteodysplastic primordial dwarfism type II
| MeSH | C565898 |
| Orphanet | ORPHA:2637 |
| Treatments | 1 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO