thanatophoric dysplasia type 1
Findings
No curated finding names thanatophoric dysplasia type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.
Definition from the Mondo Disease Ontology (MONDO:0008546), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
55 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 1-minute APGAR score of 1HPOHP:0030928
- 1 of 1 reported patient
- 5-minute APGAR score of 1HPOHP:0030921
- 1 of 1 reported patient
- Breech presentationHPOHP:0001623
- 1 of 1 reported patient
- Champagne cork signHPOHP:0034226
- 1 of 1 reported patient
- Disproportionate short-limb short statureHPOHP:0008873
- 1 of 1 reported patient
- Femoral bowingHPOHP:0002980
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Hypoplastic pelvis
Show the remaining 43
- Prominent foreheadHPOHP:0011220
- 1 of 1 reported patient
- Protuberant abdomenHPOHP:0001538
- 1 of 1 reported patient
- Pulmonary hypoplasiaHPOHP:0002089
- 1 of 1 reported patient
- Short long boneHPOHP:0003026
- 1 of 1 reported patient
- Short neckHPOHP:0000470
- 1 of 1 reported patient
- Thoracic hypoplasiaHPOHP:0005257
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FGFR3HGNC:3690
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2015
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: thanatophoric dysplasia type 1
- Also called
- TD1thanatophoric dwarfism type 1thanatophoric dysplasia, type 1type 1 thanatophoric dysplasia