frontonasal dysplasia
Findings
No curated finding names frontonasal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.
Definition from the Mondo Disease Ontology (MONDO:0016643), read 2026-09-29. CC BY 4.0.
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.
- KCTD15HGNC:23297
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
- Narrower terms (9)
- acromelic frontonasal dysostosis
- craniofrontonasal dysplasia-Poland anomaly syndrome
- frontofacionasal dysplasia
- frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
- frontonasal dysplasia with alopecia and genital anomaly
- frontorhiny
- oculoauriculofrontonasal syndrome
- Pai syndrome
- six2-related frontonasal dysplasia
Other names
1 name
Resolves to: frontonasal dysplasia
- Also called
- median cleft face syndrome