thanatophoric dysplasia
MeSH: D013796ORPHA: 1860
Overview
osteochondrodysplasia that results in short arms and legs with excess folds of skin
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, sourced from HPO and Orphanet clinical annotations.
Abnormality of the kidneyHydrocephalusMacrocephalyWide anterior fontanelHearing impairmentProptosisNarrow chestPlatyspondylyAbnormal metaphysis morphologyHypoplastic iliaAcanthosis nigricansBrachydactylySplit handSeizureHypotoniaJoint stiffnessPolyhydramniosRedundant skinAtrial septal defectPatent ductus arteriosusFrontal bossingRespiratory insufficiencyVentriculomegalyProfound intellectual disabilityGray matter heterotopiaSkeletal dysplasiaCloverleaf skullKyphosisFemoral bowingMicromeliaShort femurShort greater sciatic notchDepressed nasal bridgeBowing of the long bonesAplasia/Hypoplasia of the lungsExcessive wrinkled skinLethal short-limbed short statureIncreased nuchal translucencyFlat faceAbnormal sacroiliac joint morphology
Classification & Codes
MeSH Code
D013796Orphanet Code
ORPHA:1860thanatophoric dysplasia
| MeSH | D013796 |
| Orphanet | ORPHA:1860 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO