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Schisis association syndrome — Clinical Guidelines

Overview

Schisis association syndrome, often overlapping with VACTERL (Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula, Renal anomalies, Limb defects) and related syndromes, encompasses a spectrum of congenital malformations primarily affecting multiple organ systems, including the central nervous system, musculoskeletal, gastrointestinal, and genitourinary systems. 1 2 18

Diagnosis

Key Diagnostic Criteria: Vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal anomalies, renal anomalies, limb malformations. 1 2 10 18

Recommended Tests:

- Imaging: MRI and CT scans for detailed assessment of vertebral anomalies, tethered cord, and brain malformations. 2 18 - Renal Ultrasound: To evaluate renal anomalies. 1 2 - Genetic Testing: Consideration for chromosomal abnormalities, especially in cases with hydrocephalus or familial recurrence. 14 15

Grading: Use standardized scoring systems like VACTERL to quantify the severity and extent of anomalies. 1 2 18

Management

First-Line Treatments:

- Surgical Interventions: For anal atresia, tracheoesophageal fistula, and limb malformations. 10 18 - Nutritional Support: Early enteral feeding support and management of gastrointestinal anomalies. 10

Adjunctive Treatments:

- Orthopedic Management: Addressing hip laxity and limb deformities with physical therapy and surgical correction as needed. 22 - Neurological Monitoring: Regular follow-ups for tethered cord and hydrocephalus management, including shunting if necessary. 2 18

Specific Drug Classes: No specific drug classes or doses are highlighted in the provided abstracts. 1 2 10 18

Special Populations

Pediatrics: Early intervention for multiple congenital anomalies is crucial, including multidisciplinary care teams addressing orthopedic, cardiac, and gastrointestinal issues. 1 10 22

Comorbidities: Increased risk of psychological stress and anxieties in patients with VACTERL association; psychological support should be integrated into care plans. 1

Pregnancy: No specific information provided regarding pregnancy in the context of schisis association syndrome. 1 2 18

Elderly: Not applicable given the congenital nature of the syndrome. 1 2 18

Key Recommendations

Comprehensive Multidisciplinary Assessment: Early and thorough evaluation by specialists in orthopedics, cardiology, gastroenterology, and neurology is essential for managing VACTERL association and related syndromes. (Evidence: Moderate 1 2 18)

Surgical and Nutritional Interventions: Prioritize surgical correction for anatomical anomalies and provide intensive nutritional support to ensure adequate growth and development. (Evidence: Moderate 10 22)

Psychological Support: Integrate psychological counseling into the management plan to address the increased risk of anxiety and psychological stress observed in patients with VATER association. (Evidence: Weak 1)

References

1 Noeker M, Schmitz M, Schmiedeke E, Zwink N, Reutter H, Schmidt D et al.. Medical predictors of psychological anxieties in VATER patients. Pediatric surgery international 2011. link 2 O'Neill BR, Yu AK, Tyler-Kabara EC. Prevalence of tethered spinal cord in infants with VACTERL. Journal of neurosurgery. Pediatrics 2010. link 3 Harris K, Dorn C, Bloom B. Lumbocostovertebral syndrome with associated VACTERL anomalad: a neonatal case report. Journal of perinatology : official journal of the California Perinatal Association 2009. link 4 Kanu A, Tegay D, Scriven R. Bronchial anomalies in VACTERL association. Pediatric pulmonology 2008. link 5 Amano N, Naoaki H, Ishii T, Narumi S, Hachiya R, Nishimura G et al.. Radiological evolution in IMAGe association: a case report. American journal of medical genetics. Part A 2008. link 6 Aliefendioglu D, Bademci G, Keskil S, Somuncu S, Misirlioglu E, Cakmak AM. VACTERL-H associated with central hypothyroidism: a case report. Genetic counseling (Geneva, Switzerland) 2007. link 7 Shah D, Sharma S, Faridi MM, Mishra K. VACTERL association with Prune-Belly syndrome. Indian pediatrics 2004. link 8 Chrobok V, Jezek B, Simáková E, Northrop C, Carranza A. Malformation of stapes in VACTERLS association: a histopathologic study and three-dimensional reconstruction. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2004. link 9 James PA, Aftimos S, Hofman P. CHARGE association and secondary hypoadrenalism. American journal of medical genetics. Part A 2003. link 10 Spoon JM. VATER Association. Neonatal network : NN 2003. link 11 Guirgis MF, Lueder GT. Choroidal neovascular membrane associated with optic nerve coloboma in a patient with CHARGE association. American journal of ophthalmology 2003. link02293-6) 12 Basel D, Goldblatt J. Tibial aplasia--VACTERL association, a new syndrome?. Clinical dysmorphology 2000. link 13 Carinci F, Hassanipour A, Mandrioli S, Pastore A. Surgical treatment of choanal atresia in CHARGE association: case report with long-term follow-up. Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 1999. link 14 Wang H, Hunter AG, Clifford B, McLaughlin M, Thompson D. VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. American journal of medical genetics 1993. link 15 Orstavik KH, Steen-Johnsen J, Foerster A, Fjeld T, Skullerud K, Lie SO. VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: a case of gonosomal mosaicism?. American journal of medical genetics 1992. link 16 Chen JM, Schloss MD, Laberge JM. Extensive upper aerodigestive tract anomalies in 'VACTERL' Association. Archives of otolaryngology--head & neck surgery 1991. link 17 Iafolla AK, McConkie-Rosell A, Chen YT. VATER and hydrocephalus: distinct syndrome?. American journal of medical genetics 1991. link 18 Evans JA, Stranc LC, Kaplan P, Hunter AG. VACTERL with hydrocephalus: further delineation of the syndrome(s). American journal of medical genetics 1989. link 19 Kaplan LC. The CHARGE association: choanal atresia and multiple congenital anomalies. Otolaryngologic clinics of North America 1989. link 20 Dusmet M, Fête F, Crusi A, Cox JN. VATER association: report of a case with three unreported malformations. Journal of medical genetics 1988. link 21 Stewart G, Young DG, Azmy AF. CHARGE association in neonates presenting with choanal atresia. Zeitschrift fur Kinderchirurgie : organ der Deutschen, der Schweizerischen und der Osterreichischen Gesellschaft fur Kinderchirurgie = Surgery in infancy and childhood 1987. link 22 Lawhon SM, MacEwen GD, Bunnell WP. Orthopaedic aspects of the VATER association. The Journal of bone and joint surgery. American volume 1986. link 23 Hamilton MA. Choosing the parameter for a 2 x 2 table or a 2 x 2 x 2 table analysis. American journal of epidemiology 1979. link

Schisis association syndrome