Aase Smith Syndrome C0220686
A rare condition characterized by skeletal abnormalities including joint contractures, hydrocephalus, and anemia. Treatment focuses on managing bone and joint problems, addressing hydrocephalus if present, and supportive care.
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.
Warning signs - seek immediate care
Hydrocephalus
Accumulation of cerebrospinal fluid in the brain ventricles causing increased intracranial pressure.
Seek immediate medical attention if experiencing severe headache, vomiting, vision changes, or lethargy.
Congenital Heart Defect
Structural heart abnormalities present at birth, which may include ventricular septal defects or other cardiac malformations.
Seek immediate care for cyanosis, rapid breathing, difficulty feeding, or poor weight gain in infants.
Joint Contractures
(musculoskeletal)Permanent tightening or restriction of joints preventing normal movement and range of motion.
Frequency: 75-85% of patients
Dandy-Walker Malformation
(neurologic)Congenital brain malformation involving the cerebellum and fourth ventricle, often associated with hydrocephalus.
Frequency: 70-80% of patients
Cleft Palate
(gastrointestinal)Opening or split in the roof of the mouth that occurs during early fetal development.
Frequency: 40-50% of patients
Facial Abnormalities
(constitutional)Distinctive facial features including downslanting eyes, broad nasal bridge, and ear anomalies.
Frequency: 50-60% of patients
Developmental Delay
(neurologic)Delayed achievement of developmental milestones in motor, cognitive, or speech domains.
Frequency: 60-70% of patients
Seizures
(neurologic)Electrical disturbances in the brain causing convulsions or loss of consciousness.
Frequency: 20-30% of patients
Intellectual Disability
(neurologic)Impaired cognitive function affecting learning, reasoning, and problem-solving abilities.
Frequency: 15-25% of patients
Respiratory Difficulties
(respiratory)Breathing problems related to airway abnormalities or associated cardiac issues.
Frequency: 10-15% of patients
Medication Comparisons
Compare medications used to treat Aase Smith Syndrome C0220686. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy