short-rib thoracic dysplasia 18 with polydactyly
MONDO:0036483Mondo
Findings
No curated finding names short-rib thoracic dysplasia 18 with polydactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
27 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.
- MicromeliaHPOHP:0002983
- 2 of 2 reported patients · Fetal onset
- PlatyspondylyHPOHP:0000926
- 2 of 2 reported patients · Fetal onset
- Radial bowingHPOHP:0002986
- 2 of 2 reported patients · Fetal onset
- Thoracic hypoplasiaHPOHP:0005257
- 2 of 2 reported patients · Fetal onset
- Ulnar bowingHPOHP:0003031
- 2 of 2 reported patients · Fetal onset
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 2 reported patients · Fetal onset
- BrachydactylyHPOHP:0001156
- 1 of 2 reported patients · Fetal onset
- Choroid plexus cystHPOHP:0002190
- 1 of 2 reported patients · Fetal onset
- Cystic hygromaHPOHP:0000476
- 1 of 2 reported patients · Fetal onset
- Decreased calvarial ossificationHPOHP:0005474
- 1 of 2 reported patients · Fetal onset
- DolichocephalyHPOHP:0000268
- 1 of 2 reported patients · Fetal onset
- EpicanthusHPOHP:0000286
- 1 of 2 reported patients · Fetal onset
Show the remaining 15
- HydrocephalusHPOHP:0000238
- 1 of 2 reported patients · Fetal onset
- Hyperechogenic kidneysHPOHP:0004719
- 1 of 2 reported patients · Fetal onset
- HypertelorismHPOHP:0000316
- 1 of 2 reported patients · Fetal onset
- Hypoplastic ischiaHPOHP:0003175
- 1 of 2 reported patients · Fetal onset
- Intestinal malrotationHPOHP:0002566
- 1 of 2 reported patients · Fetal onset
- MicrognathiaHPOHP:0000347
- 1 of 2 reported patients · Fetal onset
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.
- IFT43HGNC:29669
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of