Summary about Disease
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare genetic disorder affecting the development of bones (particularly the skull and limbs), teeth, skin, hair, nails, and sometimes other organs like the kidneys and liver. It is characterized by a distinctive skull shape (craniosynostosis), skeletal abnormalities, ectodermal dysplasia (affecting tissues derived from the ectoderm, such as skin, hair, nails, and teeth), and sometimes intellectual disability. The severity and specific symptoms of CED can vary widely among affected individuals.
Symptoms
Symptoms of CED can include:
Craniofacial: Craniosynostosis (premature fusion of skull bones leading to an abnormally shaped head), prominent forehead, hypertelorism (widely spaced eyes), small jaw (micrognathia).
Skeletal: Short stature, limb abnormalities (e.g., short limbs, bowed limbs, brachydactyly - short fingers/toes), skeletal dysplasia.
Ectodermal: Sparse hair, abnormal or missing teeth (hypodontia), thin and brittle nails, skin abnormalities.
Renal: Kidney problems (e.g., nephrogenic diabetes insipidus, renal cysts, kidney failure).
Hepatic: Liver problems
Other: Intellectual disability (in some cases), vision problems.
Causes
CED is caused by mutations in genes involved in cilia function. Cilia are small, hair-like structures present on cells that play crucial roles in cell signaling and development. Mutations in genes such as IFT122, IFT43, IFT139, WDR35, TTC19, IFT131, DYNC2H1, POLR1C and *POLR1D* have been identified as causes of CED. It is typically inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.
Medicine Used
4. Medicine used There is no specific cure for CED. Treatment focuses on managing the individual's symptoms and associated complications. Medical interventions may include:
Surgery: For craniosynostosis correction (to relieve pressure on the brain and allow for normal brain growth).
Orthodontics: For dental abnormalities.
Physical Therapy: To help with motor development and mobility.
Medications: To manage kidney or liver problems, or other specific complications.
Growth Hormone Therapy: In some cases, to address short stature.
Is Communicable
CED is not communicable. It is a genetic disorder caused by gene mutations and is not contagious.
Precautions
Since CED is a genetic disorder, there are no specific precautions to prevent its occurrence in an individual. However, genetic counseling and testing may be recommended for families with a history of CED or related genetic conditions who are planning to have children. This helps them understand the risk of having a child with the condition. Individuals with CED should receive regular medical follow-up to monitor for and manage potential complications.
How long does an outbreak last?
CED is not an infectious disease and does not have outbreaks. It is a chronic condition that is present from birth, although some symptoms may develop or become more apparent over time.
How is it diagnosed?
CED diagnosis typically involves:
Clinical Evaluation: Physical examination to identify characteristic features of CED.
Radiological Studies: X-rays, CT scans, or MRI scans to assess skeletal abnormalities and skull shape.
Genetic Testing: To identify mutations in genes known to cause CED (e.g., IFT122, IFT43, IFT139, WDR35, TTC19, IFT131, DYNC2H1, POLR1C and *POLR1D*).
Other Tests: Depending on the individual's symptoms, additional tests may be performed to assess kidney, liver, and other organ function.
Timeline of Symptoms
9. Timeline of symptoms The timeline of symptoms can vary, but generally:
Prenatal/Infancy: Craniofacial abnormalities may be detected before or soon after birth. Skeletal abnormalities and ectodermal dysplasia may also be apparent in infancy.
Childhood: Short stature, dental problems, and other symptoms become more evident. Renal and hepatic complications may develop at any age but could be more common during childhood.
Throughout Life: Management of complications and ongoing monitoring are crucial throughout the individual's life.
Important Considerations
Multidisciplinary Care: Individuals with CED benefit from a multidisciplinary approach involving specialists such as geneticists, pediatricians, craniofacial surgeons, orthopedists, dentists, nephrologists, and other healthcare professionals.
Early Intervention: Early intervention programs (e.g., physical therapy, speech therapy, occupational therapy) can help optimize development and function.
Genetic Counseling: Genetic counseling is important for families affected by CED to understand the inheritance pattern, recurrence risks, and available options.
Research: Ongoing research is crucial to improve our understanding of CED, develop new treatments, and improve the quality of life for affected individuals.
Variability: It's crucial to remember that CED presents with a wide range of severity. Some individuals may have mild symptoms, while others may have more significant health challenges.