Features include always present findings: Oligohydramnios, Pulmonary hypoplasia, Sex reversal, and Intrauterine growth retardation and others; and very common findings: Bilateral lung agenesis. 17 total HPO annotations.

WNT4 function has not been fully characterized.

SERKAL syndrome is associated with mutations in the WNT4 gene on chromosome 1.

Genetic testing for WNT4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for SERKAL syndrome has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 1 very common feature, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for SERKAL syndrome.

3 publications have been identified in PubMed for SERKAL syndrome. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

• Zhang A (2026). [PMID: 41726041](https://pubmed.ncbi.nlm.nih.gov/41726041/). *Blood Sci*. [Case Report / Case Series]

• Hernández-García A (2026). [PMID: 40992710](https://pubmed.ncbi.nlm.nih.gov/40992710/). *Dev Biol*. [Basic Science / Preclinical]

• Atar M (2025). [PMID: 39713889](https://pubmed.ncbi.nlm.nih.gov/39713889/). *J Clin Res Pediatr Endocrinol*. [Diagnostic / Biomarker]