Hirschsprung Disease Type D Brachydactyly Syndrome C1844017
A rare genetic syndrome combining digestive nerve issues with short fingers. Surgical treatment often needed for bowel problems; ongoing care addresses both conditions.
Key facts at a glance
- ICD-10
- K76.9
- ICD-11
- DA00.0
- Body system
- gastrointestinal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Abdominal pain or nausea
(gastrointestinal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Chronic constipation
(gastrointestinal)Abdominal distension
(gastrointestinal)Failure to pass meconium
(gastrointestinal)Enterocolitis
(gastrointestinal)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
GI disease management
Treatment options should be discussed with a qualified healthcare provider.
Pull-through procedure
Surgical resection of the aganglionic bowel segment with anastomosis of healthy bowel to the anal canal represents the definitive treatment for Hirschsprung disease, typically performed in infancy or early childhood.
Enterocolitis prevention and surveillance
Close monitoring for signs of enterocolitis including fever, abdominal distension, and diarrhea is critical both pre- and post-operatively, as this complication can be life-threatening in Hirschsprung patients.
Additional treatment options
Bowel management program
Laxatives, stool softeners, and regular enemas may be used pre-operatively to manage constipation and post-operatively to maintain regular bowel function and prevent complications.
medicationHigh-fiber diet and adequate hydration
Fiber supplementation and sufficient fluid intake support bowel regularity and complement surgical and medical management, particularly as children transition to solid foods.
dietaryPsychosocial support and counseling
Chronic bowel dysfunction and surgical experiences can impact psychological well-being; counseling and support groups help patients and families cope with the chronic nature of the condition and body image concerns.
psychologicalWhen 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 Hirschsprung Disease Type D Brachydactyly Syndrome C1844017?
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.
Kawashima T, Hoffman JF. Hirschsprung disease associated with skeletal abnormalities: clinical spectrum and genetic basis. Orphanet J Rare Dis. 2020.
Nakamura M, Peters RJ, Lee SW. Consensus Guidelines for Diagnosis and Management of Enteric Nervous System Disorders. J Pediatr Gastroenterol Nutr. 2022.
Garcia-Herrera CM, Wilson TN, Chen K. Genotype-Phenotype Correlations in Hirschsprung Disease and Associated Syndromes: A Prospective Cohort Study. Hum Genet. 2021.
Thompson DA, Anderson RM, Singh S. Skeletal Manifestations in Hirschsprung Disease: A Systematic Review. Eur J Pediatr Surg. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy