chromosome 9p deletion syndrome
MeSH: C538024ORPHA: 2611121 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 chromosome 9p deletion syndrome, sourced from HPO and Orphanet clinical annotations.
High palateTrigonocephalyBrachycephalyMalar flatteningHypertelorismLong philtrumMicrognathiaLow-set earsAnteverted naresWebbed neckShort neckBlepharophimosisIntellectual disabilityGlobal developmental delayThin nailLow posterior hairlineDepressed nasal bridgeWide intermamillary distanceAbnormal dermatoglyphicsMicrotiaProximal placement of thumbAbnormal antihelix morphologyAnotiaCryptorchidismHypospadiasAmbiguous genitaliaNarrow mouthAbnormality of the dentitionMicrocephalyEpicanthusStrabismusThick eyebrowUpslanted palpebral fissureNystagmusSynophrysSeizureHypotoniaHypertoniaLimitation of joint mobilityAbnormality of the tarsal bonesHighly arched eyebrowScoliosisShort noseUreteropelvic junction obstructionCleft palateAtresia of the external auditory canalChoanal atresiaDownslanted palpebral fissuresMicrophthalmiaAbnormal rib morphologyCongenital diaphragmatic herniaAbnormality of the vertebral columnPostaxial hand polydactylyAgenesis of corpus callosumCalvarial skull defectBilateral single transverse palmar creasesAbnormal cardiovascular system morphologyHernia
Classification & Codes
MeSH Code
C538024Orphanet Code
ORPHA:261112chromosome 9p deletion syndrome
| MeSH | C538024 |
| Orphanet | ORPHA:261112 |
| Treatments | 1 drug(s) |
| Symptoms on record | 58 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO