Abruzzo Erickson Syndrome C1844862
A rare genetic syndrome affecting brain development and facial features. Patients typically require multidisciplinary care for developmental support.
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.
Developmental delay
(congenital)Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Craniofacial anomalies
(congenital)Hearing loss
(congenital)Genital anomalies
(congenital)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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Multidisciplinary surveillance
Regular monitoring by genetics, endocrinology, and developmental specialists to track growth patterns, puberty progression, and developmental milestones in this rare syndrome.
Growth hormone therapy
If growth hormone deficiency is identified, replacement therapy may be indicated to support normal growth and development in affected children.
Additional treatment options
Developmental and educational support
Early intervention services and educational accommodations to address potential learning disabilities, developmental delays, and social-emotional challenges associated with the syndrome.
psychologicalMusculoskeletal intervention
Physical therapy to address skeletal features such as cryptorchidism management, scoliosis monitoring, and joint mobility exercises as needed.
physical_therapyFamily genetic counseling
Genetic counseling services for affected individuals and family members to understand inheritance patterns, recurrence risks, and reproductive options.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Abruzzo Erickson Syndrome C1844862?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy