Skip to main content

Ellis Van Creveld Syndrome

 Ellis Van Creveld Syndrome


DISEASE OVERVIEW

Ellis-Van Creveld syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. Motor development and intelligence are normal. This disorder is inherited as an autosomal recessive condition.

SIGNS & SYMPTOMS

Individuals with Ellis-Van Creveld syndrome typically have arms and legs that are abnormally short while the head and trunk are normal. Extra fingers (polydactyly) are present in all patients with this condition and both hands are usually affected. Ectodermal abnormalities include abnormal development of hair, nails and teeth.

More than fifty percent of the patients with Ellis-Van Creveld syndrome are born with malformations of the heart. The most common heart defect is an abnormal opening in the wall between the two upper heart chambers (atrial septal defect). Other types of heart defects have also been reported including ventricular septal defects and patent ductus arteriosis.

Some boys with this condition have been described with undescended testicles (cryptorchidism) or an abnormally located opening of the urine canal in the penis (epispadias). Abnormalities in the chest wall, spine and respiratory system have also been reported.

SIGNS & SYMPTOMS

Individuals with Ellis-Van Creveld syndrome typically have arms and legs that are abnormally short while the head and trunk are normal. Extra fingers (polydactyly) are present in all patients with this condition and both hands are usually affected. Ectodermal abnormalities include abnormal development of hair, nails and teeth.

More than fifty percent of the patients with Ellis-Van Creveld syndrome are born with malformations of the heart. The most common heart defect is an abnormal opening in the wall between the two upper heart chambers (atrial septal defect). Other types of heart defects have also been reported including ventricular septal defects and patent ductus arteriosis.

Some boys with this condition have been described with undescended testicles (cryptorchidism) or an abnormally located opening of the urine canal in the penis (epispadias). Abnormalities in the chest wall, spine and respiratory system have also been reported.

DISORDERS WITH SIMILAR SYMPTOMS

Ellis Van-Creveld syndrome is in the category of rare skeletal disorders called short rib-polydactyly syndromes, belonging to the ciliopathies group.

These disorders are characterized by growth deficiency resulting in short stature, abnormally short ribs, extra fingers and toes (polydactyly) and variable visceral manifestations. These additional findings may include polycystic kidneys, underdevelopment (hypoplasia) of the lungs, vertebral and genitourinary abnormalities, central nervous system abnormalities, and cleft lip and cleft palate. They are inherited as autosomal recessive genetic conditions.

The short rib-polydactyly group includes 4 antenatal lethal types, Saldino-Noonan, Majewski, Verma-Naumoff and Beemer-Langer syndromes, and 2 types compatible with life, EVC and Asphyxiating Thoracic Dystrophy (ATD) or Jeune syndrome.

ATD is characterized by variable respiratory insufficiency due to the thorax narrowness, kidney, liver and retinal abnormalities, and inconstant short stature. (For more information about this condition, choose “asphyxiating thoracic dystrophy” as you search term in the Rare Disease Database.). At least two genes are associated with this condition (IFT80, DYNC2H1). The neonatal clinical presentation overlap with EVC features, especially in absence of heart abnormalities.

Weyers acrofacial dysostosis is another genetic disorder associated with polydactyly, dental and nail abnormalities, short stature and abnormal facial features. This condition has been found to be associated with a single mutation in either the EVC or EVC2 gene and follows autosomal dominant inheritance.

DIAGNOSIS

Ellis-Van-Creveld syndrome is diagnosed by the observation of short stature, slow growth, skeletal abnormalities determined by imaging techniques and sometimes teeth present at birth (natal teeth). Molecular genetic testing for the EVC and EVC2 genes is available on a research basis only. Prenatal diagnosis is possible by ultrasound.

Treatment

It is often necessary to treat respiratory distress shortly after birth that results from a narrow chest and/or heart failure. Natal teeth should be removed because they can interfere with feeding.

The treatment of Ellis-Van Creveld syndrome is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians, surgeons, cardiologists, dentists, pulmonologists, orthopedists, urologists, physical and occupational therapists and/or other health care professionals.

Genetic counseling is recommended for affected individuals and their families.

TYPE OF DOCTOR AND DEPARTMENT: Neurology SPECIALIST CAN DIAGNOSE THIS DISEASE. 

Comments

Post a Comment

Popular posts from this blog

Charge Syndrome

Overview CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. CHARGE syndrome is correlated with genetic mutation to CHD7 and the prevalence of CHARGE syndrome is 1:10,000-1:15,000 live births. Babies with CHARGE syndrome are often born with life-threatening birth defects. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing two little girls sitting on a carpet, one girl has a trach and is biting her finger.loss, vision loss, and balance problems that delay their development and communication. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations. One of the hidden features of CHARGE syndrome is the ...
7 comments
Read more

Acral Peeling Skin Syndrome

Overview Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term "acral" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling is usually evident from birth, although the condition can also begin in childhood or later in life. Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Acral peeling skin syndrome is not associated with any other health problems. Symptoms The main symptom of APSS is the painless peeling of the skin. Most people can remove this skin by hand, and it may come off in sheets, similar to peeling skin after a sunburn. 1. blistering 2. itching 3. easily removable hairs If a person exposes their skin to heat, sweat, or water, they may notice that the...
Post a Comment
Read more

Sjogren's syndrome

Sjogren's syndrome Overview Sjogren's (SHOW-grins) syndrome is a disorder of your immune system identified by its two most common symptoms — dry eyes and a dry mouth. The condition often accompanies other immune system disorders, such as rheumatoid arthritis and lupus. In Sjogren's syndrome, the mucous membranes and moisture-secreting glands of your eyes and mouth are usually affected first — resulting in decreased tears and saliva. Although you can develop Sjogren's syndrome at any age, most people are older than 40 at the time of diagnosis. The condition is much more common in women. Treatment focuses on relieving symptoms. Symptoms The two main symptoms of Sjogren's syndrome are: Dry eyes . Your eyes might burn, itch or feel gritty — as if there's sand in them. Dry mouth. Your mouth might feel like it's full of cotton, making it difficult to swallow or speak. Some people with Sjogren's syndrome also have one or more of the following: Joint pain, swel...
Post a Comment
Read more