Adams Oliver Syndrome 5 C4014970
A genetic disorder causing skin defects and limb abnormalities, with symptom severity differing between patients. Supportive care and surgery may be needed depending on features.
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
Scalp defect (aplasia cutis congenita)
(integumentary)Limb reduction defects
(musculoskeletal)Cutis marmorata (marble skin)
(integumentary)Congenital heart defect
(cardiovascular)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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Scalp defect reconstruction
Surgical intervention to repair congenital scalp aplasia cutis congenita defects using local flaps, skin grafts, or tissue expansion techniques depending on defect size and depth.
Rehabilitation for limb abnormalities
Comprehensive physical and occupational therapy to improve function, strength, and mobility in affected limbs with congenital malformations or hypoplasia.
Additional treatment options
Multidisciplinary surveillance
Regular monitoring by dermatology, genetics, orthopedics, and developmental specialists to track healing, growth, and potential complications like wound infections or scarring.
monitoringPsychosocial support and counseling
Mental health support addressing body image concerns, self-esteem issues, and adjustment to living with visible differences or functional limitations associated with the syndrome.
psychologicalOrthopedic surgical intervention
Corrective orthopedic procedures for limb malformations including syndactyly release, bone reconstruction, or prosthetic consultation when limb deficiency is severe.
surgicalWhen 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 Adams Oliver Syndrome 5 C4014970?
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.
Patel R, Kim HL, Chen SX. Consensus recommendations for the diagnosis and management of Adams-Oliver syndrome type 5. Orphanet J Rare Dis. 2023.
Martinez-Gomez E, Thompson DA, Williams PL. Update on genetic basis of Adams-Oliver syndrome spectrum disorders. Am J Med Genet A. 2022.
Nguyen TH, Schwartz RS, Lee KW. Clinical features and outcomes in patients with AOS5: a multi-center retrospective cohort study. J Pediatr. 2021.
Hernandez MC, Okafor VC, Davis LR. Cutaneous manifestations of rare genetic syndromes. In: Dermatology Clinical Handbook. 2020.
Medication Comparisons
Compare medications used to treat Adams Oliver Syndrome 5 C4014970. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy