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

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: 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

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.

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.

REMARKS