thanatophoric dysplasia type 1
ORPHA: 1860
Overview
Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly
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 1, 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
Orphanet Code
ORPHA:1860thanatophoric dysplasia type 1
| 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