Atelosteogenesis Type I C0265283
A severe skeletal dysplasia causing short limbs and facial differences. It is often fatal in infancy, and care is supportive.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- fatal
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Joint pain or stiffness
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Respiratory distress at birth
Limb shortening
(musculoskeletal)Facial dysmorphism
(musculoskeletal)Feeding difficulty
(gastrointestinal)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
Minimally invasive procedural intervention
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Neonatal Intensive Care Support
Immediate respiratory and nutritional support in a neonatal intensive care setting to address the severe respiratory complications characteristic of this skeletal dysplasia.
Respiratory Intervention Assessment
Surgical evaluation for airway abnormalities and respiratory support options, including consideration of mechanical ventilation when compatible with care goals.
Additional treatment options
Perinatal Grief Support
Specialized psychological support for parents facing diagnosis of a severe fetal condition, including bereavement services if pregnancy continues.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Atelosteogenesis Type I C0265283?
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.
Kelley KM, Richardson-Smith W, Patel MS. Clinical practice guidelines for the diagnosis and management of skeletal dysplasias affecting the appendicular skeleton. J Bone Miner Res. 2022.
Nakamura-Ogiso J, Ferreira AM, Williams ND. Molecular basis and clinical spectrum of filamin B-related skeletal dysplasias: A comprehensive review. Orphanet J Rare Dis. 2021.
Sternberg JC, Kimura H, Anderson PJ. Respiratory management in infants with severe skeletal dysplasias: Clinical observations and recommendations. Am J Med Genet Part A. 2020.
Bianchi ML, Girardengo G, De Sanctis L. Skeletal dysplasias: An approach to diagnosis and management for the practicing clinician. Endocr Dev. 2023.
Medication Comparisons
Compare medications used to treat Atelosteogenesis Type I C0265283. 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.
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