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frontonasal dysplasia-bifid nose-upper limb anomalies syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

frontonasal dysplasia-bifid nose-upper limb anomalies syndrome

MONDO:0035018

Overview

A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.

ResearchLimited published research (2 articles)

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 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome.

2 publications have been identified in PubMed for frontonasal dysplasia-bifid nose-upper limb anomalies syndrome. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Altunoglu U (2025). [PMID: 40094327](https://pubmed.ncbi.nlm.nih.gov/40094327/). *Turk Arch Pediatr*. [Basic Science / Preclinical]
Guo C (2024). [PMID: 38858685](https://pubmed.ncbi.nlm.nih.gov/38858685/). *BMC Pregnancy Childbirth*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 7:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:521308

GARD

Genetic and Rare Diseases Info Center

GARD:22142

Questions for Your Care Team

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frontonasal dysplasia-bifid nose-upper limb anomalies syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team