Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding craniofacial microsomia is limited primarily due to its rarity, affecting fewer than 10,000 individuals in the U.S. This low prevalence restricts the scope of systematic clinical studies and comprehensive research. Additionally, the genetic basis is still being explored, and the phenotypic variability among affected individuals complicates the characterization of the condition. Ongoing research aims to deepen understanding and improve management strategies.
The clinical picture of craniofacial microsomia varies widely among individuals. Key features include preauricular skin tags, which are present in 80-99% of cases, and hemifacial hypoplasia, also found in 80-99%. Other notable features include microtia (30-79%), aplasia or hypoplasia of the maxilla (30-79%), and micrognathia (30-79%). Hearing impairments and atresia of the external auditory canal are also common, affecting 30-79% of individuals. Developmental delays in speech and language are reported in a similar proportion of cases.
To navigate craniofacial microsomia effectively, consider consulting with specialists such as a craniofacial surgeon or a geneticist with experience in congenital disorders. The goldenhar Family Support Group offers resources and community support for affected families, which can be invaluable. You may also explore participation in research studies or patient registries to contribute to the understanding of this condition. Genetic counseling can provide insights into the genetic aspects and implications for family members, especially given the known genes involved.
Currently, there are two active clinical trials focused on craniofacial microsomia. These trials may explore various aspects of the condition, including treatment approaches and management strategies. For more information on these trials, you can visit ClinicalTrials.gov and search for craniofacial microsomia. Although there are no orphan drug designations at this time, participation in clinical research may provide access to emerging therapies and contribute to the understanding of this condition.
Actionable guidance for navigating care for craniofacial microsomia
To navigate craniofacial microsomia effectively, consider consulting with specialists such as a craniofacial surgeon or a geneticist with experience in congenital disorders. The goldenhar Family Support Group offers resources and community support for affected families, which can be invaluable. You may also explore participation in research studies or patient registries to contribute to the understanding of this condition. Genetic counseling can provide insights into the genetic aspects and implications for family members, especially given the known genes involved.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the craniofacial microsomia community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
3 peer-reviewed sources from PubMed
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.