postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Findings
No curated finding names postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014369), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
44 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.
- Abnormal TSH response to thyrotrophin-releasing hormone stimulation testHPOHP:0033080
- 1 of 1 reported patient
- Abnormally high-pitched voiceHPOHP:0001620
- 1 of 1 reported patient
- Adrenocorticotropic hormone deficiencyHPOHP:0011748
- 3 of 3 reported patients
- Anterior pituitary hypoplasiaHPOHP:0010627
- 3 of 3 reported patients
- Bilateral postaxial polydactylyHPOHP:0006136
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure
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.
- GLI2HGNC:4318
- Definitive · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2016