short-rib thoracic dysplasia 14 with polydactyly
Findings
No curated finding names short-rib thoracic dysplasia 14 with polydactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.
Definition from the Mondo Disease Ontology (MONDO:0014688), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
26 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.
- Molar tooth sign on MRIHPOHP:0002419
- 5 of 5 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 4 of 8 reported patients
- Short ribsHPOHP:0000773
- 4 of 8 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 8 reported patients
- MicromeliaHPOHP:0002983
- 3 of 8 reported patients
- Occipital meningoceleHPOHP:0002436
- 3 of 8 reported patients
- PolymicrogyriaHPOHP:0002126
Show the remaining 14
- AnencephalyHPOHP:0002323
- 1 of 8 reported patients
- Aplasia of the olfactory bulbHPOHP:0032466
- 1 of 8 reported patients
- Aplastic clavicleHPOHP:0006660
- 1 of 8 reported patients
- Congenital diaphragmatic herniaHPOHP:0000776
- 1 of 8 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 8 reported patients
- Enlarged cisterna magnaHPOHP:0002280
- 1 of 8 reported patients
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.
- KIAA0586HGNC:19960
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: short-rib thoracic dysplasia 14 with polydactyly
- Also called
- SRTD14