Raine syndrome

MeSH: C535282ORPHA: 1832

Overview

Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course

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 Raine syndrome, sourced from HPO and Orphanet clinical annotations.

Large fontanellesMicrocephalyDelayed cranial suture closureRetrognathiaMicrognathiaPosteriorly rotated earsLow-set earsDepressed nasal ridgeAnteverted naresShort neckGingival fibromatosisGingival overgrowthProptosisIntrauterine growth retardationDyspneaRespiratory distressRespiratory failureShort noseMandibular aplasiaMedian cleft palate

Classification & Codes

MeSH Code

C535282

Orphanet Code

ORPHA:1832
Raine syndrome
MeSHC535282
OrphanetORPHA:1832
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO