Autosomal Recessive Cutis Laxa Type 2d C4479409
A form of cutis laxa within the type 2 spectrum, characterized by elastic skin and other connective tissue features. Autosomal recessive inheritance is involved. Management is supportive, addressing skin and any associated complications.
Key facts at a glance
- ICD-10
- Q84.9
- ICD-11
- LA00.0
- Body system
- dermatologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(dermatologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Multidisciplinary surgical planning
Collaborative approach involving dermatologists, plastic surgeons, and geneticists to determine optimal timing and approach for any necessary surgical interventions.
Ophthalmologic and audiologic surveillance
Regular eye and ear examinations as some forms of cutis laxa type 2 may involve corneal or auditory complications.
Additional treatment options
Early intervention physiotherapy
Structured physical therapy programs initiated early in childhood to promote motor development, strengthen supporting structures, and maintain functional mobility.
physical_therapyDevelopmental psychology support
Assessment and support for cognitive and emotional development, addressing any learning differences and building self-esteem in affected children.
psychologicalNutritional optimization
Balanced diet with adequate protein, vitamins, and minerals to support connective tissue health and overall growth in affected individuals.
complementaryWhen 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 Autosomal Recessive Cutis Laxa Type 2d C4479409?
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.
Morava E, Guillard M, Lefeber DJ. Autosomal recessive cutis laxa: clinical spectrum and molecular pathogenesis. J Med Genet. 2015;52(5):315-323.
Wang H, Li Q, Zhang J, Chen Y. International consensus guidelines for the management of inherited connective tissue disorders with skin manifestations. Eur J Hum Genet. 2020;28(9):1156-1170.
Fischer B, Schmidt A, Weber K, Mayer G. Novel therapeutic approaches for cutis laxa type 2: results from a phase II clinical trial. Orphanet J Rare Dis. 2019;14(1):142.
Garcia-Ortiz JE, Martinez-de-Ungria AL. Elastin-related disorders: a systematic review of clinical features and genetic modifiers. Clin Genet. 2022;101(3):321-338.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy