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white forelock with malformations - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

white forelock with malformations

MONDO:0010199

Overview

White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.

GeneticsAutosomal recessive

ResearchLimited published research (6 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: White forelock, Bronchomalacia, Aplasia/Hypoplasia of the distal phalanges of the toes, and Hypertelorism and 3 more.

Organ System	Phenotype Count	Example Features
Lungs and breathing	1	Bronchomalacia
Arms and legs

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 white forelock with malformations.

6 publications have been identified in PubMed for white forelock with malformations. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Recent Publications

Hasan B (2026). [PMID: 41761471](https://pubmed.ncbi.nlm.nih.gov/41761471/). *Sci Prog*. [Review / Meta-Analysis]
Saleeb MF (2025). [PMID: 39210075](https://pubmed.ncbi.nlm.nih.gov/39210075/). *Eur Arch Otorhinolaryngol*. [Epidemiology / Natural History]
Gombojav B (2025). [PMID: 40650035](https://pubmed.ncbi.nlm.nih.gov/40650035/). *Int J Mol Sci*. [Case Report / Case Series]
Sun F (2024). [PMID: 38844942](https://pubmed.ncbi.nlm.nih.gov/38844942/). *Orphanet J Rare Dis*. [Basic Science / Preclinical]
Awashra A (2024). [PMID: 39070423](https://pubmed.ncbi.nlm.nih.gov/39070423/). *Cureus*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:58 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:277740

Orphanet

European rare disease database

Orphanet:2475

GARD

Genetic and Rare Diseases Info Center

GARD:10081

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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white forelock with malformations

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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