PACS1 SYNDROME
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ALTERNATE NAMES
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Autosomal Dominant Intellectual Disability-17; Intellectual Disability-Craniofacial
Dysmorphism Cryptorchidism Syndrome; PACS1 Neurodevelopmental Disorder; PACS1-NDD;
PACS1 Related Syndrome; Schuurs-Hoeijmakers Syndrome; SHMS
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DESCRIPTION
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PACS1 syndrome is a rare neuro-genetic disorder caused by mutations in the PACS1 gene. It is characterized by mild-to-severe neurodevelopmental delays. Language skills
are affected more severely than motor skills. Hypotonia (decreased muscle tone) is
reported in about a third of individuals and is noted to improve over time.
Approximately 60 percent of individuals are ambulatory. Feeding difficulty is common,
with 25 percent requiring gastrostomy tube to maintain appropriate caloric intake.
Other common features include constipation, seizures, behavioral issues, congenital
heart anomalies, short stature, and microcephaly. Many affected individuals have additional
neurological, behavioral, and health problems. PACS1 syndrome mostly occurs in children,
and rarely occurs in adults.
The prevalence of PACS1 syndrome is unknown; more than 30 affected individuals have
been described in the scientific literature.
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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 PACS1 syndrome is based on:
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Clinical examination; and
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Genetic testing for mutation of the PACS1 gene.
Physical findings: The physical signs and symptoms of PACS1 syndrome include:
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Distinctive facial appearance;
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Thick and highly arched eyebrows;
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Widely set eyes (hypertelorism);
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Outside corners of the eyes that point downward (down slanting palpebral fissures);
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Wide mouth with corners that point downward;
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Smooth area between the nose and upper lip (philtrum);
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Ears that are low-set with fewer folds and grooves than normal;
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Malformations of the heart, brain, eyes, or other organs; and
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Males may have undescended testes (cryptorchidism).
ICD-9: 755.5; 758.9
ICD-10: Q87.0
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PROGRESSION
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Symptoms may begin as a newborn, infant, in a single age range, or during several
age ranges. In PACS1 syndrome, intellectual disability typically ranges from mild
to moderate. Individuals with this condition also have problems with producing speech
(expressive language). Speech development ranges from limited language to few words
or no speech.
Children with PACS1 syndrome often have problems learning to eat solid food and prefer
soft foods. When given solid foods, affected children often swallow without chewing.
These food issues tend to persist throughout life. Some affected individuals experience
a backflow of stomach acids into the esophagus (gastroesophageal reflux).
Additional neurological problems can occur in PACS1 syndrome. Some affected individuals
have features of autism spectrum disorder, attention-deficit/hyperactivity disorder
(ADHD), obsessive-compulsive disorder (OCD), self-injury, or frustration leading to
tantrums can also occur. Most individuals with PACS1 syndrome have seizures that vary
in type and age of onset. Some individuals with PACS1 syndrome have weak muscle tone
(hypotonia). Individuals with this condition are often delayed in walking, with some
developing an unsteady walking style (gait). Rarely, affected individuals have frequent
falls and gradually lose their ability to walk in late childhood, requiring wheelchair
assistance.
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TREATMENT
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There is no curative treatment for this syndrome. Treatment is symptom specific and
supportive. Treatment by a multidisciplinary team is needed to address feeding issues,
constipation, seizures, behavioral issues, cardiac anomalies, vision issues, and renal
anomalies. Medication to prevent seizures and placement of a feeding tube to help
with weight gain may be warranted.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and physical examination that describes the diagnostic features of
the impairment; and
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Genetic sequencing tests confirming mutation of the PACS1 gene.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTINGS
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REMARKS
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Meets
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110.08 A or B
111.02
111.17
112.02
112.05
112.06
112.10
112.11
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Evaluate the most severe forms of PACS1 Syndrome under 110.08 A or B.
For less severe, late onset forms, evaluate under the affected body systems.
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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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