hypertrichosis cubiti-short stature syndrome
MeSH: C535618ORPHA: 2220
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 hypertrichosis cubiti-short stature syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityGeneralized hirsutismMicromeliaSevere short statureRhizomeliaAbnormality of the elbowAbnormal skin morphologyRound faceFacial asymmetryMutismAphasiaEcholaliaMicrocephalyAbnormality of the faceHigh foreheadProminent nasal bridgeAbnormality of the neckAbnormal eyelid morphologyDownslanted palpebral fissuresAbnormal eyelash morphologyPtosisThick eyebrowAbnormal nasolacrimal system morphologyIntellectual disabilityGlobal developmental delaySpecific learning disabilityDelayed skeletal maturation
Classification & Codes
MeSH Code
C535618Orphanet Code
ORPHA:2220hypertrichosis cubiti-short stature syndrome
| MeSH | C535618 |
| Orphanet | ORPHA:2220 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO