osteopenia-intellectual disability-sparse hair syndrome
MeSH: C537706ORPHA: 2324
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 osteopenia-intellectual disability-sparse hair syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityHypertelorismDelayed speech and language developmentOsteopeniaGeneralized hypotoniaFrontal bossingDelayed gross motor developmentSparse scalp hairFine hairRecurrent fracturesRelative macrocephalyPostnatal growth retardationMandibular prognathiaLow-set earsBulbous noseBlue scleraeSingle transverse palmar creaseSeizureHigh-frequency sensorineural hearing impairmentDelayed skeletal maturation2-3 toe syndactylyMidface retrusion
Classification & Codes
MeSH Code
C537706Orphanet Code
ORPHA:2324osteopenia-intellectual disability-sparse hair syndrome
| MeSH | C537706 |
| Orphanet | ORPHA:2324 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO