short-rib thoracic dysplasia 19 with or without polydactyly
MONDO:0033485Mondo
Findings
No curated finding names short-rib thoracic dysplasia 19 with or without 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
19 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.
- DolichocephalyHPOHP:0000268
- 2 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- Lateral clavicle hookHPOHP:0000895
- 1 of 1 reported patient · Congenital onset
- Prominent occiputHPOHP:0000269
- 2 of 2 reported patients
- Relative macrocephalyHPOHP:0004482
- 2 of 2 reported patients
- Long philtrumHPOHP:0000343
- 1 of 2 reported patients · Congenital onset
- Low-set earsHPOHP:0000369
- 1 of 2 reported patients
- MicromeliaHPOHP:0002983
- 1 of 2 reported patients
- Midface retrusionHPOHP:0011800
- 1 of 2 reported patients
- Postaxial polydactylyHPOHP:0100259
- 1 of 2 reported patients
- Short ribsHPOHP:0000773
- 1 of 2 reported patients
- Ventricular septal defectHPOHP:0001629
- 1 of 2 reported patients
Show the remaining 7
- Horizontal ribsHPOHP:0000888
- Hypoplasia of the radiusHPOHP:0002984
- Hypoplastic iliaHPOHP:0000946
- Pulmonary hypoplasiaHPOHP:0002089
- Respiratory distressHPOHP:0002098
- Respiratory failureHPOHP:0002878
- Thoracic hypoplasiaHPOHP:0005257
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.
- IFT81HGNC:14313
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of