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Roberts Syndrome and the Social Security Disability

In 2013 the SSA is expected to receive more than three million claims for Social Security Disability benefits. This high volume of applications combined with the cutbacks that Social Security is facing only adds to the backlog of disability applicants who are awaiting approval of the benefits they have applied for. It takes some of these applicants literally years before seeing a single check from the Social Security Administration (SSA). A few short years ago all of these applications were handled the same way – even those who could not possibly wait months, let alone years, for benefits to begin. In 2008 the SSA addressed this fact and rolled out the Compassionate Allowances program. Under this program, individuals who suffer from covered disabilities could receive benefits in as few as 10 days. Roberts Syndrome is now one of the conditions that qualify an applicant for processing under the Compassionate Allowances guidelines.

Roberts Syndrome Condition and Symptoms

Roberts Syndrome, also referred to as RS, is a genetic disorder that results from mutations in the ESCO2 gene. This results in abnormal chromosome separation during cell division. It is characterized by both prenatal and postnatal growth failure as well as severe malformation of the limbs. The upper limbs tend to be more affected than the lower limbs in individuals who are afflicted by this condition. Facial abnormalities are also present with RS. In addition, some patients may suffer from heart and kidney abnormalities as well as abnormalities in the genital area. RS also results in delayed intellectual development in approximately half of the individuals who are born with the condition. In very rare and severe cases, the neural tube may be affected with a sac-like protrusion of the brain.

Symptoms of the condition can vary from one case to the next. Common symptoms include:

  • Prenatal growth retardation
  • Hands and feet attached to shortened arms and legs
  • Hypomelia
  • Missing fingers or toes
  • The absence of thumbs
  • Fingers or toes being joined together
  • Curving of the fifth finger
  • The inability to fully straighten the knee or elbow
  • Cleft lip
  • Cleft palate
  • Small chin
  • Small head size
  • Unusually wide set eyes
  • Protruding eyeballs
  • Corneal clouding
  • Ear malformations
  • A beaked nose
  • Mental retardation

Applying for Social Security Disability Benefits with Roberts Syndrome

When applying for Social Security Disability benefits, you are required to provide the SSA with medical evidence that proves that the condition the applicant is suffering from meets the criteria of the Compassionate Allowances guidelines. In the case of Roberts Syndrome, you must provide the SSA with:

  • Records of a clinical examination that describe the diagnostic features of the impairment
  • Results of molecular genetic testing showing ESCO2 gene mutations
  • Lab results showing the absence of the functional ESCO2 protein
  • Developmental assessment to support any allegations of mental impairment

Unfortunately there is no cure for this disorder. Treatment is usually symptomatic. For example, surgery may be required to address a cleft lip or cleft palate. Children who are in school will likely need an individualized educational plan. The impact on life expectancy depends on the severity of the condition.

Roberts Syndrome and Your Social Security Disability Case

You do not need to retain a lawyer to apply for Social Security Disability benefits, but it may be in your best interests to do so. The SSA does not normally deny claims that are based on a Compassionate Allowances listing, but it can happen if your claim forms are not filled out properly or if you do not furnish sufficient medical evidence to support your claim.

By working with a disability attorney you can ensure that your claim forms are properly filled out and that the adjudicator reviewing the file understands how the claim qualifies for processing under the Compassionate Allowances guidelines. Your lawyer will also work with you to gather the medical documentation that will be necessary to support your claim.