short-rib thoracic dysplasia 21 without polydactyly
MONDO:0030356Mondo
Findings
No curated finding names short-rib thoracic dysplasia 21 without polydactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
35 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.
- BrachydactylyHPOHP:0001156
- 4 of 4 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Disproportionate short-limb short statureHPOHP:0008873
- 5 of 5 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- HypertrichosisHPOHP:0000998
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Narrow chestHPOHP:0000774
- 1 of 1 reported patient
- Neonatal respiratory distressHPOHP:0002643
- 1 of 1 reported patient
- Short long boneHPOHP:0003026
- 1 of 1 reported patient
- Thoracic hypoplasiaHPOHP:0005257
- 4 of 4 reported patients
- Tube feedingHPOHP:0033454
- 1 of 1 reported patient
Show the remaining 23
- Widely spaced teethHPOHP:0000687
- 1 of 1 reported patient
- Dysgenesis of the cerebellar vermisHPOHP:0002195
- 3 of 4 reported patients
- Flat faceHPOHP:0012368
- 3 of 4 reported patients
- Frontal bossingHPOHP:0002007
- 3 of 4 reported patients
- Protuberant abdomenHPOHP:0001538
- 3 of 4 reported patients
- Flexion contractureHPOHP:0001371
- 2 of 3 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.
- KIAA0753HGNC:29110
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: short-rib thoracic dysplasia 21 without polydactyly
- Also called
- SRTD21