dysmorphism-short stature-deafness-disorder of sex development syndrome
ORPHA: 2282
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 dysmorphism-short stature-deafness-disorder of sex development syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyHypertelorismFacial asymmetryMicrognathiaHearing impairmentWide nasal bridgeAnteverted naresGeneralized hypotoniaIntrauterine growth retardationPatent ductus arteriosusPulmonary arterial hypertensionRecurrent respiratory infectionsHighly arched eyebrowShort noseShort statureHyperactive deep tendon reflexesMicrotiaSevere intellectual disabilityFeeding difficultiesHypoxemiaCryptorchidismMale pseudohermaphroditismHypospadiasShawl scrotumMicropenisCleft soft palateShort neckPtosisAbnormality of the skeletal systemSubmucous cleft soft palate
Classification & Codes
Orphanet Code
ORPHA:2282dysmorphism-short stature-deafness-disorder of sex development syndrome
| Orphanet | ORPHA:2282 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO