diastrophic dysplasia
MeSH: C536170ORPHA: 628
Overview
osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the SLC26A2 gene which results in short limb dwarfism
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 diastrophic dysplasia, sourced from HPO and Orphanet clinical annotations.
MacrocephalyAbnormal rib morphologyAbnormal clavicle morphologyAbnormal metaphysis morphologyIntrauterine growth retardationScoliosisMicromeliaAbnormal form of the vertebral bodiesShort statureDepressed nasal bridgeAbnormal metacarpal morphologyAbnormal epiphysis morphologyBowing of the long bonesHypoplastic cervical vertebraeNeonatal short-limb short statureShort fingerProximal placement of thumbLarge earlobeIncreased bone mineral densityMidface retrusionCleft palateFull cheeksHypertelorismOverfolded helixUnderdeveloped nasal alaeBlue scleraeHitchhiker thumbHypotoniaJoint dislocationHip dysplasiaJoint stiffnessTalipes equinovarusSandal gapRecurrent respiratory infectionsKyphosisGenu valgumLumbar hyperlordosisCervical kyphosisThoracolumbar kyphosisCervical spina bifidaUlnar deviation of fingerJoint contractureCamptodactyly of fingerCryptorchidismNarrow mouthBroad foreheadMicrognathiaHearing impairmentStenosis of the external auditory canalNarrow noseDownslanted palpebral fissuresHyperextensible skinBrachydactylyRespiratory insufficiencySpinal cord compressionCerebral calcificationElbow dislocationClinodactyly of the 5th fingerAirway obstructionHigh anterior hairlineVisceral angiomatosisPosteriorly rotated earsJoint hypermobility
Classification & Codes
MeSH Code
C536170Orphanet Code
ORPHA:628diastrophic dysplasia
| MeSH | C536170 |
| Orphanet | ORPHA:628 |
| Treatments | 0 drug(s) |
| Symptoms on record | 63 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO