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Acromesomelic Dysplasia 1 Maroteaux Type C1864356

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

A specific form of acromesomelic dysplasia from NPR2 gene mutations. It causes severe limb shortening and short stature. Treatment is supportive.

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

Key facts at a glance

ICD-10
Q79.9
ICD-11
LA00.0
Body system
musculoskeletal
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Joint pain or stiffness

(musculoskeletal)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Short stature

(musculoskeletal)

Shortened forearms

(musculoskeletal)

Hip dysplasia

(musculoskeletal)

Scoliosis

(musculoskeletal)

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

Lifestyle modification and dietary intervention

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Physical therapy program

Customized physical therapy focusing on joint mobility, muscle strengthening, and preventing contractures through guided exercises and stretches.

physical_therapy
3

Orthopedic surgical intervention

Surgical procedures to correct limb deformities, address joint abnormalities, or manage spinal complications when conservative measures are insufficient.

surgical

Additional treatment options

Regular orthopedic and endocrine monitoring

Comprehensive monitoring of growth patterns, joint function, and endocrine status through scheduled evaluations and imaging studies.

monitoring

Assistive devices and adaptive equipment

Provision of supportive devices such as orthotics, walking aids, or adaptive equipment to enhance mobility and independence in daily activities.

lifestyle

Psychological support and counseling

Mental health support to address body image concerns, social challenges, and emotional well-being associated with living with a rare skeletal condition.

psychological

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 Acromesomelic Dysplasia 1 Maroteaux Type C1864356?

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

Kantaputra PN, Intach N. Acromesomelic dysplasia Maroteaux type: clinical and molecular review. Orphanet J Rare Dis. 2022.

review2022
2

International Skeletal Dysplasia Consortium. Guidelines for diagnosis and management of skeletal dysplasias. Am J Med Genet A. 2020.

guideline2020
3

Vasiljevic A,enter D, Klajn A. Novel NPR2 mutations in acromesomelic dysplasia type Maroteaux. Bone. 2021.

clinical_trial2021
4

Baujat G, Le Merrer M. Skeletal dysplasia and genetic disorders of stature: a systematic review. Lancet Diabetes Endocrinol. 2023.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Acromesomelic Dysplasia 1 Maroteaux Type C1864356. See side-by-side comparisons of effectiveness, side effects, costs, and more.

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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