Autosomal Recessive Syndrome Of Syndactyly Undescended Testes And Central Nervous System Defects Cn178542
A rare genetic syndrome affecting multiple systems including fused fingers, undescended testes, and brain development. It follows an autosomal recessive inheritance pattern. Management involves surgical correction and specialized neurological care.
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
Hydrocephalus
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Syndactyly
(musculoskeletal)Undescended testes
(reproductive)Developmental delay
(nervous)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
Multidisciplinary Developmental Surveillance
Regular developmental assessments by a team of specialists including pediatric neurology, endocrinology, and orthopedics. Monitoring growth, neurodevelopment, and hormonal function allows for early identification of issues requiring intervention.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Syndactyly Release Surgery
Surgical separation of webbed fingers or toes to improve function and dexterity. Timing depends on the extent of syndactyly and whether toe involvement affects gait; rehabilitation therapy follows to maximize functional outcomes.
Orchiopexy for Undescended Testes
Surgical correction to bring undescended testes into the scrotum, ideally performed before age 1-2 years. This procedure preserves fertility potential and reduces risks of testicular cancer and testicular torsion.
Additional treatment options
Neurosurgical Intervention for CNS Defects
Evaluation and surgical management of structural CNS abnormalities, which may include shunt placement for hydrocephalus or repair of meningomyelocele. The specific intervention depends on the type and severity of CNS involvement.
surgicalFamily Counseling and Support Services
Comprehensive psychological support for families managing a child with multiple congenital anomalies. Services include counseling for adjustment, sibling support, and connection to community resources and support groups.
psychologicalWhen 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 Autosomal Recessive Syndrome Of Syndactyly Undescended Testes And Central Nervous System Defects Cn178542?
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 20, 2026. · Read our editorial policy