thanatophoric dysplasia type 2
Findings
No curated finding names thanatophoric dysplasia type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.
Definition from the Mondo Disease Ontology (MONDO:0008547), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Second trimester onset · Late first trimester onset
HPO, annotations 2026-09-02
Features
38 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.
- Cloverleaf skullHPOHP:0002676
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- MicromeliaHPOHP:0002983
- 5 of 5 reported patients · Antenatal onset
- Very frequent (80% to 99% of cases)
- Narrow chestHPOHP:0000774
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- PlatyspondylyHPOHP:0000926
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Short ribsHPOHP:0000773
Show the remaining 26
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- Redundant skinHPOHP:0001582
- Very frequent (80% to 99% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
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 · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
6 names
Resolves to: thanatophoric dysplasia type 2
- Also called
- cloverleaf skull-micromelic bone dysplasia syndromeTD2thanatophoric dwarfism type 2thanatophoric dwarfism-cloverleaf skull syndromethanatophoric dysplasia, type 2type 2 thanatophoric dysplasia