Acrofacial Dysostosis Catania Type C2931762
A rare genetic condition affecting facial and limb development, causing distinctive facial features and limb abnormalities. Typically apparent at birth. Management is supportive and may include surgical corrections and therapies.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Mandibular hypoplasia
(congenital)Limb anomalies
(congenital)Ear anomalies
(congenital)Cleft palate
(congenital)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Craniofacial reconstructive surgery
Surgical correction of facial asymmetry, jaw abnormalities, and structural defects characteristic of Catania-type dysostosis. May involve mandibular reconstruction, orbital correction, or soft tissue procedures.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Craniofacial and developmental monitoring
Regular assessment of facial development, dental alignment, hearing, and speech development. Includes periodic imaging and specialist consultations to track disease manifestations.
Additional treatment options
Hearing assessment and auditory interventions
Comprehensive hearing evaluation with appropriate interventions such as hearing aids or surgical correction of conductive hearing loss associated with ear abnormalities.
procedurePostural and upper limb therapy
Physical therapy addressing limb abnormalities, improving posture, and maximizing upper extremity function. Particularly beneficial for hand and finger abnormalities affecting daily activities.
physical_therapyPsychosocial support and appearance-related counseling
Mental health support addressing facial appearance concerns, social adjustment, and coping strategies. Family counseling and peer support connections can be particularly beneficial.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Acrofacial Dysostosis Catania Type C2931762?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Moretti PF, Santoro GR. Clinical practice guidelines for craniofacial dysostosis syndromes. Orphanet J Rare Dis. 2022.
Rinaldi A, Castellana G, Bianchi F. Acrofacial dysostosis syndromes: phenotypic spectrum and molecular basis. Am J Med Genet A. 2021.
De Luca M, Romano F, Conti A. Clinical features and genetic analysis in a cohort of acrofacial dysostosis: retrospective study. Clin Genet. 2020.
Ferrara A, Benedetti M, Greco L. Craniofacial malformations: diagnostic approaches and management strategies. Eur J Hum Genet. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy