Summary about Disease
Warkany syndrome 3, also known as de Lange syndrome (CdLS), is a rare genetic disorder characterized by a range of developmental and physical abnormalities. These can include distinctive facial features, growth delays (both before and after birth), intellectual disability, limb malformations, and other medical problems. The severity of the syndrome varies significantly among affected individuals.
Symptoms
Symptoms of de Lange syndrome can include:
Distinctive facial features: Arched eyebrows that meet in the middle (synophrys), long eyelashes, a small upturned nose, a thin downturned mouth, and small, widely spaced teeth.
Growth delays: Slow growth before and after birth, resulting in short stature.
Intellectual disability: Varying degrees of cognitive impairment.
Limb malformations: Missing fingers or toes, shortened limbs, or malformed arms and hands.
Other potential issues: Feeding difficulties, gastrointestinal problems (reflux, constipation), heart defects, vision and hearing problems, seizures, and skeletal abnormalities.
Causes
De Lange syndrome is typically caused by genetic mutations. The most common genes involved are:
NIPBL
SMC1A
SMC3
RAD21
HDAC8 Most cases are caused by new (de novo) mutations, meaning they occur spontaneously and are not inherited from the parents. However, in some cases, the condition can be inherited in an autosomal dominant or X-linked pattern.
Medicine Used
There is no specific medicine to "cure" de Lange syndrome. Treatment focuses on managing the individual's symptoms and associated medical problems. This can involve:
Feeding therapy: To address feeding difficulties.
Growth hormone: To promote growth in some cases.
Medications: To manage seizures, gastrointestinal problems, or other specific medical conditions.
Therapy: Occupational, physical, and speech therapy to improve developmental skills and physical function.
Is Communicable
No, de Lange syndrome is not communicable. It is a genetic disorder, not an infectious disease.
Precautions
Since de Lange syndrome is a genetic condition, there are no general "precautions" to prevent it in the typical sense. If a family has a history of de Lange syndrome, genetic counseling and prenatal testing may be considered to assess the risk of recurrence. Otherwise, management involves taking the necessary steps to treat the symptoms of the disease.
How long does an outbreak last?
De Lange syndrome is not an infectious disease or "outbreak," so this question does not apply. It is a chronic genetic condition that individuals live with throughout their lives.
How is it diagnosed?
De Lange syndrome is usually diagnosed based on a combination of:
Clinical evaluation: Physical examination to identify characteristic features.
Developmental assessment: Evaluation of cognitive and motor skills.
Genetic testing: To identify mutations in genes known to be associated with de Lange syndrome. Chromosomal microarray analysis may also be performed.
Timeline of Symptoms
Symptoms can manifest at various stages:
Prenatal: Slow growth may be detected during pregnancy.
Newborn period: Distinctive facial features, feeding difficulties, and other physical abnormalities may be apparent at birth.
Infancy and childhood: Developmental delays, intellectual disability, and other medical problems become more evident.
Throughout life: The symptoms and associated medical problems persist, requiring ongoing management.
Important Considerations
Variability: The severity of de Lange syndrome varies greatly. Some individuals have mild symptoms, while others are more severely affected.
Multidisciplinary care: Affected individuals require comprehensive care from a team of specialists, including geneticists, pediatricians, therapists, and other healthcare professionals.
Early intervention: Early intervention programs and therapies can help improve developmental outcomes.
Family support: Support groups and resources are available to help families cope with the challenges of caring for a child with de Lange syndrome.