Diaphanospondylodysostosis
ICD-10: Q78.8MeSH: C564305ORPHA: 1782
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 Diaphanospondylodysostosis, sourced from HPO and Orphanet clinical annotations.
MacrocephalyHypertelorismHearing impairmentNystagmusOptic atrophyAbnormal dental enamel morphologyDelayed eruption of teethPlatyspondylyAbnormal metaphysis morphologyIntellectual disabilityAbnormal cranial nerve morphologyVentricular septal defectDevelopmental regressionCerebral calcificationRecurrent fracturesIrregular vertebral endplatesShort statureCraniofacial hyperostosisAplasia/Hypoplasia of the skinHypoplastic vertebral bodiesIncreased bone mineral densityCoarse metaphyseal trabecularization
Classification & Codes
ICD-10 Code
Q78.8MeSH Code
C564305Orphanet Code
ORPHA:1782Diaphanospondylodysostosis
| ICD-10 | Q78.8 |
| MeSH | C564305 |
| Orphanet | ORPHA:1782 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO