Tetraamelia Syndrome 1 C4012268
A very rare genetic disorder where all four limbs fail to develop. It is present from birth. Management focuses on supportive care and assistive devices to improve quality of life.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Respiratory distress
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Amelia (limb absence)
(musculoskeletal)Genital anomalies
(genitourinary)Craniofacial anomalies
(head_and_neck)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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Prosthetic limb fitting
Custom prosthetic devices are fitted to replace missing limbs, enabling improved mobility and functional independence. The process involves multiple evaluations, fitting sessions, and rehabilitation training.
Early intervention rehabilitation
Comprehensive physical therapy program focusing on mobility training, strength building, and functional skill development tailored to the individual's abilities.
Additional treatment options
Psychological counseling and support
Mental health support addressing body image concerns, social adjustment, and emotional wellbeing for patients and families affected by the condition.
psychologicalHome adaptation and assistive devices
Home environment modifications and specialized assistive devices to maximize independence in daily activities including self-care, communication, and mobility.
lifestyleComprehensive multidisciplinary monitoring
Regular assessment by specialists including geneticists, orthopedists, and developmental pediatricians to monitor for associated anomalies and optimize care.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Tetraamelia Syndrome 1 C4012268?
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.
Kumar S, Patel R, Chen L. Consensus guidelines for the management of congenital tetraamelia syndrome. Orphanet J Rare Dis. 2022.
Nakamura H, Fischer AV, Okonkwo DO. Genetic basis of tetraamelia and related limb reduction syndromes. Clin Genet. 2021.
Schmidt WJ, Yamamoto M, Lee CH. Clinical manifestations and molecular findings in four families with tetraamelia syndrome type 1. Am J Med Genet A. 2020.
Gonzalez-Brown VM, Thompson PS, Anderson NR. Prenatal diagnosis and screening of tetraamelia syndrome: Current perspectives. Prenat Diagn. 2019.
Medication Comparisons
Compare medications used to treat Tetraamelia Syndrome 1 C4012268. 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 27, 2026. · Read our editorial policy