syndactyly-telecanthus-anogenital and renal malformations syndrome
Findings
No curated finding names syndactyly-telecanthus-anogenital and renal malformations syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
Definition from the Mondo Disease Ontology (MONDO:0010408), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
55 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.
- 3-4 toe syndactylyHPOHP:0009779
- 1 of 1 reported patient
- 3-5 toe syndactylyHPOHP:0010716
- 1 of 1 reported patient
- 4-5 toe syndactylyHPOHP:0004692
- 1 of 1 reported patient
- Anal atresiaHPOHP:0002023
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 43
- Wide noseHPOHP:0000445
- 1 of 1 reported patient
- Lop earHPOHP:0000394
- 4 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- 4 of 6 reported patients
- Very frequent (80% to 99% of cases)
- TelecanthusHPOHP:0000506
- 5 of 7 reported patients
- Frequent (30% to 79% of cases)
- Labial hypoplasiaHPOHP:0000066
- 4 of 6 reported patients
- Frequent (30% to 79% of cases)
- Vesicoureteral refluxHPOHP:0000076
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.
- CCNQHGNC:28434
- Definitive · G2P · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · ClinGen · X-linked · 2024
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
2 names
Resolves to: syndactyly-telecanthus-anogenital and renal malformations syndrome
- Also called
- STAR syndromeSTAR syndrome, X-linked dominant