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Features include always present findings: Cleft palate, Microphthalmia, Tessier number 4 facial cleft, and Talipes calcaneovalgus; and sometimes findings: Deep palmar crease and Coloboma. 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 3 | Cleft palate, Tessier number 4 facial cleft, Cleft upper lip |
SPECC1L function has not been fully characterized.
Tessier number 4 facial cleft is associated with mutations in the SPECC1L gene on chromosome 22.
Genetic testing for SPECC1L is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Tessier number 4 facial cleft.
8 publications have been identified in PubMed for Tessier number 4 facial cleft. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (13%).
Luo J (2026). [PMID: 41118488](https://pubmed.ncbi.nlm.nih.gov/41118488/). *J Craniofac Surg*. [Epidemiology / Natural History]
Suito M (2026). [PMID: 41799641](https://pubmed.ncbi.nlm.nih.gov/41799641/). *JPRAS Open*. [Case Report / Case Series]
Fernstrum C (2025). [PMID: 39986881](https://pubmed.ncbi.nlm.nih.gov/39986881/). *Clin Plast Surg*. [Review / Meta-Analysis]
Zhang Z (2025). [PMID: 40193142](https://pubmed.ncbi.nlm.nih.gov/40193142/). *J Craniofac Surg*. [Case Report / Case Series]
Hoang TD (2025). [PMID: 40067322](https://pubmed.ncbi.nlm.nih.gov/40067322/). *J Craniofac Surg*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:58 PM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Tessier number 4 facial cleft
Li M (2024). [PMID: 38945016](https://pubmed.ncbi.nlm.nih.gov/38945016/). *Int J Surg Case Rep*. [Case Report / Case Series]
Civantos AM (2024). [PMID: 38900216](https://pubmed.ncbi.nlm.nih.gov/38900216/). *Curr Opin Otolaryngol Head Neck Surg*. [Review / Meta-Analysis]