spondyloepiphyseal dysplasia, Nishimura type
MeSH: C566515ORPHA: 163649
Overview
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit
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 spondyloepiphyseal dysplasia, Nishimura type, sourced from HPO and Orphanet clinical annotations.
BrachycephalyWide anterior fontanelEpicanthusHypertelorismLong philtrumAnteverted naresShort neckCataractLong palpebral fissureNarrow chestPlatyspondylySlender fingerGlobal developmental delayCoxa valgaAbnormal skull base morphologyDownturned corners of mouthThoracic kyphosisFlattened epiphysisFlat acetabular roofShort noseOvoid vertebral bodiesAbnormal femoral neck/head morphologyDepressed nasal bridgeDelayed patellar ossificationWide proximal femoral metaphysisIncreased bone mineral densityAnterior plagiocephalyAbnormal bone ossificationMicrognathiaFrontal bossingFundus hypopigmentationAbnormality of cranial suturesHemiatrophy of upper limbCleft palateHigh palateRetinal detachmentMyopiaMicrophthalmiaAnisospondylyAbnormality of the elbowOligosacchariduria
Classification & Codes
MeSH Code
C566515Orphanet Code
ORPHA:163649spondyloepiphyseal dysplasia, Nishimura type
| MeSH | C566515 |
| Orphanet | ORPHA:163649 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO