microcephalic osteodysplastic dysplasia, Saul-Wilson type
ORPHA: 85172
Overview
congenital abnormality
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 microcephalic osteodysplastic dysplasia, Saul-Wilson type, sourced from HPO and Orphanet clinical annotations.
MicrocephalyMalar flatteningConvex nasal ridgeNarrow nasal bridgeCataractProptosisPlatyspondylyTalipes equinovarusFrontal bossingHypoplasia of the odontoid processShort palmShort statureIrregularity of vertebral bodiesCone-shaped epiphyses of the phalanges of the handOverhanging nasal tipSmall hand
Classification & Codes
Orphanet Code
ORPHA:85172microcephalic osteodysplastic dysplasia, Saul-Wilson type
| Orphanet | ORPHA:85172 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO