Program Operations Manual System (POMS)
TN 30 (08-20)
DI 23022.935 Caudal Regression Syndrome - Types III and IV
COMPASSIONATE ALLOWANCES INFORMATION
|
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; Sacral Regression Syndrome; Sacral Agenesis Syndrome
|
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.
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/ICD-10-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;
-
-
•
Bilateral renal dysplasia or aplasia;
-
-
•
In severe cases, rotation and fusion of the lower extremities;
-
•
Spinal cord defects, and related motor and sensory deficits;
-
•
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
-
ICD-9: 742.9
ICD-10: Q07.8
|
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
|
REMARKS
|
Meets
|
11.08
|
|
111.08
|
|
Equals
|
|
|
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
|