De Barsy Syndrome
Also known as: Autosomal Recessive Cutis Laxa, Progeroid Syndrome, Wrinkly Skin Syndrome
De Barsy syndrome is a rare autosomal recessive genetic disorder characterized by cutis laxa (loose, wrinkled skin), growth retardation, intellectual disability, progeroid features (premature aging), and distinctive facial features. The severity of symptoms can vary among affected individuals. Several subtypes exist, each linked to different gene mutations.
Imagine your skin is like a loose, wrinkly shirt that's too big. Kids with De Barsy Syndrome have skin like that, and they might grow slower and have a harder time learning. It's like their bodies are aging a little faster than they should.
Signs & Symptoms
- Cutis laxa (loose, wrinkled skin)
- Growth retardation
- Intellectual disability
- Progeroid features (premature aging)
- Distinctive facial features (e.g., large ears, prominent eyes)
- Joint hypermobility
- Skeletal abnormalities
- Cataracts
- Corneal clouding
- Respiratory problems
- Feeding difficulties
Treatment Options
Supportive Care
SUPPORTIVEPhysical Therapy
MODERATELY EFFECTIVEOccupational Therapy
MODERATELY EFFECTIVESpeech Therapy
MODERATELY EFFECTIVENutritional Support
SUPPORTIVESurgical Correction of Skeletal Abnormalities
MODERATELY EFFECTIVECataract Surgery
HIGHLY EFFECTIVERespiratory Support (e.g., mechanical ventilation)
SUPPORTIVEDiagnosis
- Clinical evaluation
- Physical examination
- Skin biopsy
- Genetic testing (whole exome sequencing, targeted gene sequencing)
- Radiological studies (X-rays)
- Ophthalmological examination
History
De Barsy syndrome was first described by De Barsy et al. in 1968. Initial reports focused on the clinical features of cutis laxa, growth retardation, and progeroid appearance. Subsequent research has identified various genetic mutations associated with the syndrome, leading to a better understanding of its molecular basis and heterogeneity.
Recent Breakthroughs
Identification of ATP6V0A2 mutations in De Barsy Syndrome
Research identified mutations in the ATP6V0A2 gene as a cause of De Barsy Syndrome, providing insights into the genetic basis of the disease and potential targets for future therapies.
Further delineation of the genetic landscape of autosomal recessive cutis laxa
Studies have expanded the understanding of the genetic heterogeneity of De Barsy syndrome and related cutis laxa syndromes, identifying additional genes and mutations associated with the condition.