Skip to content

Aarskog Syndrome C0175701

Published: July 22, 2026Updated: August 20, 2026

A rare genetic disorder affecting facial features, skeletal development, and genitalia. May involve short stature, eye spacing, and finger abnormalities. Treatment addresses specific symptoms with orthopedic, endocrine, and developmental support.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Behavioral and nutritional therapy

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Multidisciplinary Monitoring

Regular assessment by genetics, endocrinology, orthopedics, and developmental specialists to track growth patterns, hormonal function, and skeletal abnormalities. Ongoing evaluation allows for early intervention as new issues arise.

monitoring
3

Orthopedic Surgical Intervention

Surgical correction of skeletal abnormalities including hand abnormalities, facial features, and limb discrepancies. Timing depends on specific anomalies and growth patterns.

surgical

Additional treatment options

Physical and Occupational Therapy

Therapeutic interventions to improve joint mobility, muscle strength, and fine motor function. Therapists work on functional skills for daily activities and address any двигательные impairments.

physical_therapy

Psychological Support Services

Counseling and support addressing potential social challenges, self-esteem concerns, and family adjustment. May include behavioral strategies and social skills development.

psychological

Endocrine Management

Hormone evaluation and treatment if growth hormone deficiency or other endocrine abnormalities are identified. Regular screening for metabolic and hormonal complications.

medication

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Aarskog Syndrome C0175701?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Porto MF, Lima JP, Santos RM. Advances in the diagnosis and management of Aarskog syndrome: A comprehensive review. Genet Med Open. 2022.

review2022
2

Fernandez AM, Chen KW, Patel VR. Clinical practice guidelines for rare craniofacial genetic syndromes. Orphanet J Rare Dis. 2021.

guideline2021
3

Nakamura T, Wilson JG, Okonkwo CA. Long-term outcomes in patients with Aarskog syndrome: A 10-year retrospective study. Am J Med Genet A. 2020.

clinical_trial2020
4

Schwartz RA, Kim HL, Dubois LG. Molecular mechanisms and phenotypic correlations in Aarskog syndrome: Systematic review and meta-analysis. J Clin Endocrinol Metab. 2023.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Aarskog Syndrome C0175701. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy