CAUDAL REGRESSION SYNDROME- TYPES III AND IV

ALTERNATE NAMES

Caudal Dysplasia Sequence; Caudal Regression Sequence; Caudal Dysgenesis Syndrome; Sacral Regression; Sacral Agenesis; Lumbo Sacral Agenesis; Sacral Defect with Anterior Meningocele

DESCRIPTION

Caudal Regression Syndrome (CRS) is a rare congenital disorder that occurs when the lowest half of the body (caudal) does not fully form in utero, resulting in varying degrees of developmental failure including a partially formed or absent lower half of the spine, orthopedic malformations, spinal cord defects, and related motor and sensory deficits. Other congenital anomalies, such as genitourinary defects (i.e. unilateral or bilateral renal absence, renal displacement, and fused urinary tubes), gastrointestinal defects (inability to control bowel movements and closed anus), and cardiac disease may be present.

There are four main types of CRS. Types I and II are considered mild forms with coccyx (tailbone) absence without deficits in functionality. Types III and IV are the most severe with systemic and neurological complications.

The exact cause of this disorder is unknown. It occurs in people with no history of the condition in their family. Multiple genetic and environmental risk factors are thought to be contributory to this condition. Maternal diabetes, genetic predisposition, and vascular hypoperfusion have been linked to CRS.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: A preliminary diagnosis can be made in utero by ultrasound, during the first trimester of pregnancy, but must be confirmed after birth. The severity of the disease is determined by examination of the newborn by postnatal ultrasound and a MRI (magnetic resonance imaging).

Physical findings: Individuals with CRS may have partial agenesis (absence) of the thoracolumbosacral spine, imperforate (closed) anus, malformed genitalia, bilateral renal dysplasia or aplasia, pulmonary hypoplasia, and in severe cases have rotation and fusion of the lower extremities.

ICD-9: 742.9

ONSET AND PROGRESSION

The prognosis depends on the severity of spinal involvement and associated malformations. Early neonatal (the first 28 days of life) death in the severe forms occurs from cardiac, renal, and respiratory complications.

TREATMENT

There is no cure for this disorder because the primary pathology is irreversible. Treatment is supportive and symptomatic. Individuals with severe forms of CRS require ongoing neurological, orthopedic and renal interventions. Surgical intervention, such as a colostomy is performed to treat an imperforate (closed) anus. Physical and occupational therapies are used to improve quality of life.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

• Clinical history and examination that describes the diagnostic features of the impairment, as well as the related functional limitations.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

Meets Listing

11.08

111.08

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