thanatophoric dysplasia type 2
MeSH: C536508ORPHA: 93274
Overview
form of thanatophoric dysplasia
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 thanatophoric dysplasia type 2, sourced from HPO and Orphanet clinical annotations.
Abnormality of the kidneyHydrocephalusMacrocephalyHearing impairmentProptosisNarrow chestPlatyspondylyAbnormal metaphysis morphologyAcanthosis nigricansBrachydactylySeizureHypotoniaHoloprosencephalyLimitation of joint mobilityPolyhydramniosRedundant skinAtrial septal defectPatent ductus arteriosusFrontal bossingEncephaloceleRespiratory insufficiencyVentriculomegalyAbnormality of neuronal migrationSkeletal dysplasiaCloverleaf skullKyphosisMicromeliaShort statureDepressed nasal bridgeAplasia/Hypoplasia of the lungsShort thoraxIncreased nuchal translucencyFlat faceCognitive impairmentJoint hypermobility
Classification & Codes
MeSH Code
C536508Orphanet Code
ORPHA:93274thanatophoric dysplasia type 2
| MeSH | C536508 |
| Orphanet | ORPHA:93274 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO