Genetically heterogeneous autosomal recessive syndrome characterized by abnormal and slow growth and development that becomes evident within the first few years after birth, cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints, delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Death occurs usually before puberty, with however no significant increase in skin cancer or infection.
- Specific challenges associated with the recognition of the condition :
Difficult clinical diagnosis of a delayed development and skin, eye, skelettal, neurological symptoms.
- Specific challenges associated with the diagnosis
Need of molecular diagnosis.
- Specific challenges associated with the treatment
Supportive care, no treatment.
- Specific challenges associated with care of these patients over their
Progressive neurodegeneration, mental and physical disabilities.
Prevalence : unknown