BAINBRIDGE-ROPERS SYNDROME
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ALTERNATE NAMES
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ASXL3/Bainbridge-Ropers Syndrome; ASXL3 Syndrome BRPS; ASXL3 Syndrome; ASXL3-Related
Disorder; Severe Feeding Difficulties Failure to Thrive Microcephaly Due to ASXL3
Deficiency Syndrome
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DESCRIPTION
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Bainbridge-Ropers syndrome (BRPS) is a neurodevelopmental disorder caused by mutations in the ASXL3 gene. It is characterized by delayed psychomotor development, intellectual disability,
absent or poor speech, hypotonia, poor growth, seizures, and dysmorphic facial features.
Affected individuals may also display autistic features. Some individuals may have
issues with feeding and cyclic vomiting during infancy. While dysmorphic facial features
have been described, they are typically nonspecific. Affected individuals may also
have hypotonia that can transition to spasticity resulting in unusual posture with
flexion contractions of the elbows, wrists, and fingers. Other findings may include
strabismus, sleep disturbance, and palate and dental anomalies.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: The diagnosis of BRPS is made by:
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Chromosomal microarray analysis; and
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Genetic testing for mutation of the ASXL3 gene.
Physical findings:The frequently occurring physical signs and symptoms of BRPS include:
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Feeding difficulties in infancy;
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Global developmental delays;
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Infantile muscular hypotonia (decreased muscle tone);
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Intellectual disability, which may be severe or profound;
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Neurological speech impairment;
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Abnormality of the skeletal system;
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Loose joints and wrists that bend inward;
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Microcephaly (abnormally small head); and
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Strabismus (misalignment of the eyes).
ICD-9: 755.55; 758.9
ICD-10: Q87.0
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PROGRESSION
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Symptoms of BRPS may start to appear during pregnancy, at birth, and as an infant.
Most affected individuals display normal birth weight for gestational age but often
experience poor postnatal growth because of feeding issues during infancy. They may
display poor suck and swallow, recurrent vomiting, and GERD (gastroesophageal reflux
disease). Most individuals with ASXL3 -related disorder, especially in the younger age groups, come to medical attention
because of poor postnatal growth and ongoing feeding difficulties. Growth and height
typically stabilize or normalize after appropriate treatment of feeding issues.
Hypotonia is a common feature in individuals with ASXL3-related disorder, especially during the neonatal period and in early infancy. Later
in life, some children develop an unusual posture and contractures with elbow, wrist,
and fingers held in the flexion position. This is likely because of spasticity that
becomes apparent with age.
Seizures occur in about one third of affected individuals and can range from generalized
tonic-clonic seizures to absence seizures. Seizures typically respond to standard
anti-seizure medications.
Most individuals with ASXL3-related disorder have normal brain imaging and do not have any characteristic brain
findings.
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TREATMENT
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There is no curative treatment for this syndrome. Complications are typically managed
through a multidisciplinary team of medical specialists and therapists (speech therapy,
physical therapy, occupational therapy, etc.).
Treatment is symptom specific and supportive and may include feeding therapy; gastrostomy
tube placement for those with persistent feeding issues; anti-reflux medication or
fundoplication for those with gastroesophageal disease; standard treatment for epilepsy,
joint contractures, sleep apnea, dental anomalies, strabismus or refractive error,
and developmental delay/intellectual disability.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes diagnostic features of the impairment;
and
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Genetic sequencing tests confirming mutation of the ASXL3 gene.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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100.05
105.10
110.08 B
111.02
111.09
112.05
112.10
112.11
112.14
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Equals
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*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.
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