temtamy preaxial brachydactyly syndrome
Findings
No curated finding names temtamy preaxial brachydactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011533), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
54 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.
- ClinodactylyHPOHP:0030084
- 10 of 10 reported patients
- Hitchhiker thumbHPOHP:0001234
- 10 of 10 reported patients
- MicrodontiaHPOHP:0000691
- 10 of 10 reported patients
- Occasional (5% to 29% of cases)
- SyndactylyHPOHP:0001159
- 10 of 10 reported patients
- Abnormal digit morphologyHPOHP:0011297
- Very frequent (80% to 99% of cases)
- Duplication of thumb phalanxHPOHP:0009942
- Very frequent (80% to 99% of cases)
- Talon cusp
Show the remaining 42
- Complete duplication of proximal phalanx of the thumbHPOHP:0009608
- Frequent (30% to 79% of cases)
- Complete duplication of the middle phalanx of the 3rd fingerHPOHP:0009966
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- HypodontiaHPOHP:0000668
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Partial duplication of the proximal phalanx of the 3rd fingerHPOHP:0009970
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.
- CHSY1HGNC:17198
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: temtamy preaxial brachydactyly syndrome
- Also called
- preaxial brachydactyly syndrome, TEMTAMY type