short-rib thoracic dysplasia 16 with or without polydactyly
MONDO:0014915Mondo
Findings
No curated finding names short-rib thoracic dysplasia 16 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
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
29 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.
- Angel-shaped phalanxHPOHP:0032078
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- Carious teethHPOHP:0000670
- 1 of 1 reported patient
- Cone-shaped epiphyses of the phalanges of the handHPOHP:0010230
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- DolichocephalyHPOHP:0000268
- 1 of 1 reported patient
- Full cheeksHPOHP:0000293
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
- HypermetropiaHPOHP:0000540
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Limb undergrowthHPOHP:0009826
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
Show the remaining 17
- Midface retrusionHPOHP:0011800
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Narrow chestHPOHP:0000774
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Postaxial polydactylyHPOHP:0100259
- 1 of 1 reported patient · Congenital onset
- Protuberant abdomenHPOHP:0001538
- 1 of 1 reported patient
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.
- IFT52HGNC:15901
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
2 names
Resolves to: short-rib thoracic dysplasia 16 with or without polydactyly
- Also called
- short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16SRTD16