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postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome (CJS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

MONDO:0014369

Also known as:CJSCuller-Jones syndromePallister-Hall syndrome 2

Overview

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

GeneticsAutosomal dominant · GLI2 (chr 2)

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include sometimes findings: Cleft palate, Global developmental delay, Midface retrusion, and Postaxial polydactyly and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	4	Anterior pituitary hypoplasia, Ectopic posterior pituitary, Diabetes insipidus

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GLI2 encodes GLI family zinc finger 2 (1,586 aa). Functions as a transcription regulator in the hedgehog (Hh) pathway. Functions as a transcriptional activator. May also function as transcriptional repressor. Highest expression in Ovary (22.1 TPM) and Uterus (11.2 TPM).

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is associated with mutations in the GLI2 gene on chromosome 2.

GLI2 is classified as a druggable target (Druggable Genome and Transcription Factor categories) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for GLI2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome has been reported in the published literature.

Prognosis

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

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome.

7 publications have been identified in PubMed for postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome. Research spans Case Report / Case Series (57%), Diagnostic / Biomarker (14%), and Review / Meta-Analysis (14%).

Recent Publications

Kanjilal S (2026). [PMID: 40910774](https://pubmed.ncbi.nlm.nih.gov/40910774/). *Oper Neurosurg*. [Case Report / Case Series]
Yuan X (2025). [PMID: 41152794](https://pubmed.ncbi.nlm.nih.gov/41152794/). *BMC pediatrics*. [Case Report / Case Series]
Raykina EN (2025). [PMID: 41640148](https://pubmed.ncbi.nlm.nih.gov/41640148/). *Problemy endokrinologii*. [Epidemiology / Natural History]
Xie X (2025). [PMID: 41488893](https://pubmed.ncbi.nlm.nih.gov/41488893/). *Frontiers in pediatrics*. [Case Report / Case Series]
Tedesco MG (2025). [PMID: 40428346](https://pubmed.ncbi.nlm.nih.gov/40428346/). *Genes*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615849

Orphanet

European rare disease database

Orphanet:420584

GARD

Genetic and Rare Diseases Info Center

GARD:13349

Questions for Your Care Team

→Should I pursue genetic testing for GLI2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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