Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry....
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding auriculocondylar syndrome is limited primarily due to its extreme rarity, with a prevalence of less than 1 in 1,000,000. This rarity restricts the number of systematic clinical studies and comprehensive characterizations. Additionally, the absence of identified genetic causes and inheritance patterns further complicates research efforts and clinical understanding.
The clinical picture of auriculocondylar syndrome includes several key features. The most prominent is mandibular condyle hypoplasia, observed in 80-99% of cases, leading to potential dental malocclusion and facial asymmetry. Additionally, 30-79% of patients may present with respiratory distress, obstructive sleep apnea, and various ear abnormalities, including cleft helix and aplasia/hypoplasia of the external ear. Developmental delays and impaired hearing are also noted, contributing to the overall complexity of care.
To navigate auriculocondylar syndrome, consider consulting a craniofacial specialist or an otolaryngologist with experience in congenital ear disorders. While no specific patient organizations are identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information. Additionally, consider seeking genetic counseling to discuss potential genetic implications and family planning options, even in the absence of known genetic markers.
Actionable guidance for navigating care for auriculocondylar syndrome
To navigate auriculocondylar syndrome, consider consulting a craniofacial specialist or an otolaryngologist with experience in congenital ear disorders. While no specific patient organizations are identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information. Additionally, consider seeking genetic counseling to discuss potential genetic implications and family planning options, even in the absence of known genetic markers.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
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