Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
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.
Features include always present findings: Toe syndactyly, Anal atresia, Spina bifida occulta, and Single transverse palmar crease and others; and common findings: Labial hypoplasia, Short stature, Septate vagina, and Bicornuate uterus and others. 41 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 5 | Toe syndactyly, 3-5 toe syndactyly, 4-5 toe syndactyly |
Heart and blood vessels | 3 | Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect |
Growth and development | 2 | Short stature, Intrauterine growth retardation |
Head and neck | 2 | Thin upper lip vermilion, Craniosynostosis |
Kidneys and urinary system | 2 | Crossed fused renal ectopia, Pelvic kidney |
Lungs and breathing | 2 | Valvular pulmonary stenosis, Peripheral pulmonary artery stenosis |
Bones and joints | 1 | Joint hypermobility |
Brain and nerves | 1 | Depressed nasal bridge |
CCNQ encodes cyclin Q (248 aa). Activating cyclin for the cyclin-associated kinase CDK10 Highest expression in Pituitary (41.5 TPM) and Brain Frontal Cortex BA9 (32.9 TPM).
Syndactyly-telecanthus-anogenital and renal malformations syndrome has been associated with mutations in the CCNQ gene on chromosome X.
CCNQ is classified as a druggable target (Kinase category) with score 0.0.
Genetic testing for CCNQ is available. Testing is considered supportive for diagnosis.
Phenotype severity distribution: 13 always present features, 10 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for syndactyly-telecanthus-anogenital and renal malformations syndrome.
1 publication has been identified in PubMed for syndactyly-telecanthus-anogenital and renal malformations syndrome. Research spans Case Report / Case Series (100%).
Zgheib O (2025). [PMID: 39887729](https://pubmed.ncbi.nlm.nih.gov/39887729/). *Clin Genet*. [Case Report / Case Series]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 9:48 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center