spondyloepiphyseal dysplasia, Cantu type
MeSH: C567128ORPHA: 163654
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, Cantu type, sourced from HPO and Orphanet clinical annotations.
CryptorchidismWide mouthAbnormal palate morphologyThick lower lip vermilionThick upper lip vermilionAbnormality of the chinLong philtrumWide nasal bridgeAnteverted naresShort neckBroad neckThick eyebrowBlepharophimosisUpslanted palpebral fissurePectus excavatumBrachydactylyAbnormality of the voiceAbnormal metatarsal morphologyLow posterior hairlineNail dysplasiaCurly hairDelayed skeletal maturationCubitus valgusShort long boneShort statureCuboid-shaped vertebral bodiesRhizo-meso-acromelic limb shorteningDepressed nasal bridgeBroad long bonesLimited pronation/supination of forearmCurly eyelashesMultiple rows of eyelashesMicrotiaHypoplastic pelvisAplasia/Hypoplasia involving the pelvisFacial hirsutismShort thoraxNarrow philtrumEnlarged thorax
Classification & Codes
MeSH Code
C567128Orphanet Code
ORPHA:163654spondyloepiphyseal dysplasia, Cantu type
| MeSH | C567128 |
| Orphanet | ORPHA:163654 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO