Chitayat syndrome
MONDO:0014956Mondo
Findings
No curated finding names Chitayat syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Neonatal onset · Third trimester onset
HPO, annotations 2026-09-02
Features
34 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
- 5 of 5 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hallux valgusHPOHP:0001822
- 5 of 5 reported patients
- HypertelorismHPOHP:0000316
- 5 of 5 reported patients
- Respiratory distressHPOHP:0002098
- 6 of 6 reported patients
- Short 2nd fingerHPOHP:0009536
- 2 of 2 reported patients
- Short middle phalanx of the 2nd fingerHPOHP:0009577
- 3 of 3 reported patients
- Short middle phalanx of the 5th fingerHPOHP:0004220
- 3 of 3 reported patients
- Short proximal phalanx of halluxHPOHP:0010107
- 2 of 2 reported patients
- Thick vermilion borderHPOHP:0012471
- 1 of 1 reported patient
Show the remaining 22
- Motor delayHPOHP:0001270
- 4 of 6 reported patients
- Pectus excavatumHPOHP:0000767
- 4 of 6 reported patients
- Anteverted naresHPOHP:0000463
- 3 of 6 reported patients
- PolyhydramniosHPOHP:0001561
- 3 of 6 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 3 of 6 reported patients
- BronchomalaciaHPOHP:0002780
- 2 of 6 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.
- ERFHGNC:3444
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: Chitayat syndrome
- Also called
- Chitayat syndrome; CHYTSCHYTS