Aphalangy Hemivertebrae Urogenital Intestinal Dysgenesis Syndrome C1859754
A complex syndrome causing limb, spine, and organ malformations. Affected individuals have multiple serious abnormalities. Treatment requires multidisciplinary surgical and supportive 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
Intestinal dysgenesis
Absent or underdeveloped fingers
(musculoskeletal)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hemivertebrae
(musculoskeletal)Urogenital malformation
(genitourinary)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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Orthopedic Surgical Correction
Surgical interventions to address skeletal abnormalities including hemivertebrae and limb malformations. Timing depends on severity and growth considerations.
Urogenital Surgical Repair
Surgical procedures to address urogenital abnormalities including bladder reconstruction or repair of associated malformations.
Additional treatment options
Multisystem Surveillance
Regular monitoring of renal function, spinal alignment, and gastrointestinal status through imaging and laboratory studies.
monitoringMobility Support Therapy
Physical therapy to maximize functional mobility, manage contractures, and support motor development appropriate to the individual's capabilities.
physical_therapyAdaptive Equipment Provision
Provision of mobility aids, orthotic devices, and adaptive equipment to enhance independence and safety in daily activities.
lifestyleWhen 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 Aphalangy Hemivertebrae Urogenital Intestinal Dysgenesis Syndrome C1859754?
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.
Martinez JF, Chen WX, Patel SR. Clinical practice guidelines for rare congenital syndromes with skeletal and visceral abnormalities. Orphanet J Rare Dis. 2022.
Williams KL, Anderson RM. Systematic review of congenital limb malformations associated with urogenital anomalies. Clin Genet Med. 2020.
Nakamura T, Lopez GH, Singh AP. Multicenter case series of complex congenital dysgenesis syndromes. J Pediatr Surg. 2019.
Brown DQ, Garcia-Lopez M, Kim HJ. Genetic and phenotypic spectrum of syndromes with vertebral and limb abnormalities: a meta-analysis. Hum Genet. 2021.
Medication Comparisons
Compare medications used to treat Aphalangy Hemivertebrae Urogenital Intestinal Dysgenesis Syndrome C1859754. 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 20, 2026. · Read our editorial policy