short-rib thoracic dysplasia 9 with or without polydactyly
Findings
No curated finding names short-rib thoracic dysplasia 9 with or without 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 or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
Definition from the Mondo Disease Ontology (MONDO:0009964), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
87 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.
- Absent middle phalanx of 2nd fingerHPOHP:0009576
- 1 of 1 reported patient
- Absent middle phalanx of 5th fingerHPOHP:0009162
- 1 of 1 reported patient
- Accessory oral frenulumHPOHP:0000191
- 1 of 1 reported patient
- Acute kidney injuryHPOHP:0001919
- 1 of 1 reported patient
- Bifid uvulaHPOHP:0000193
- 1 of 1 reported patient
- Broad metacarpalsHPOHP:0001230
- 1 of 1 reported patient
- CholangitisHPOHP:0030151
Show the remaining 75
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- EdemaHPOHP:0000969
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Fair hairHPOHP:0002286
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
Genes
2 genes
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.
Where it sits
Other names
6 names
Resolves to: short-rib thoracic dysplasia 9 with or without polydactyly
- Also called
- Conorenal syndromeMainzer Saldino syndromeMainzer-Saldino syndromerenal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndromeSaldino-Mainzer syndromeSRTD9