TN 49 (10-21)

DI 23022.981 Roberts Syndrome

COMPASSIONATE ALLOWANCES INFORMATION

ROBERTS SYNDROME

ALTERNATE NAMES

Roberts Disease; Appelt-Gerken-Lenz Syndrome; Appelt-Gerken-Lenz Disease; Hypomelia Hypotrichosis Facial Hemangioma Syndrome; Hypomelia Hypotrichosis Facial Hemangioma Disease; Pseudothaliodomide Syndrome; Roberts SC Phocomelia Disease; Tetraphocomelia-Cleft-Palate Syndrome; SC Syndrome

DESCRIPTION

Roberts Syndrome (RS) is a genetic disorder caused by mutations in the ESCO2 gene, resulting in abnormal chromosome separation during cell division. RS is characterized by low birth weight and subsequent growth failure, and developmental abnormalities.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Molecular genetic testing for ESCO2 gene mutations, resulting in absence of functional ESCO2 protein.

Physical findings:

  • Symmetric, shortened arm and leg bones (hypomelia), or sometimes hands and feet located very close to the body (phocomelia);

  • Missing toes or fingers;

  • Joint contractures;

  • Microcephaly (abnormally small head);

  • Cleft palate;

  • Micrognathia (undersized lower jaw);

  • Encephalocele (protrusion of the brain from the skull); and

  • Heart, kidney, or genital abnormalities.

ICD-9: 755

ICD-10: Q74

PROGRESSION

There is variation in the severity of clinical manifestations, and the most severe forms of RS are often stillborn or die shortly after birth. The less severely affected may live to adulthood. Individuals with the milder form of RS may have normal intellectual and social functioning abilities. Mortality in the newborn period or early childhood is due to cardiac or renal malformations.

TREATMENT

The treatment and management of RS is symptomatic, such as corrective surgery for cleft palate and limb deformities; prostheses, and developmental services including speech and language if cleft deformities are present. School age children require individualized and flexible instructional curricula. Standard treatment is needed for individuals with cardiac defects and renal abnormalities.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • Molecular genetic testing for ESCO2 gene mutations; and

  • Developmental assessment or psychological testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

1.18

100.05

101.18

112.02

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.


To Link to this section - Use this URL:
http://policy.ssa.gov/poms.nsf/lnx/0423022981
DI 23022.981 - Roberts Syndrome - 10/25/2021
Batch run: 10/25/2021
Rev:10/25/2021