Thanatophoric Dysplasia Type 2 C1300257
A severe skeletal disorder that affects how bones develop, causing extreme short stature and abnormal bone formation. This condition is present at birth and is typically life-limiting. Supportive care focuses on comfort.
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.
Severe respiratory insufficiency
Extremely short limbs with skin folds
(musculoskeletal)Cloverleaf skull malformation
(musculoskeletal)Frontal bossing with depressed nasal bridge
(musculoskeletal)Medication Comparisons
Compare medications used to treat Thanatophoric Dysplasia Type 2 C1300257. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy