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Ellis-van Creveld Syndrome occurs with higher frequency in the Amish population due to their practice of limited genetic diversity and a relatively small gene pool. This autosomal recessive condition is caused by mutations in the EVC and EVC2 genes, which can be more prevalent in isolated communities where intermarriage occurs. The Amish often have large families, which can increase the chances of recessive genetic disorders manifesting in offspring. Consequently, the syndrome is more commonly observed in this community compared to the general population.
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Does turner syndrome occur in boys?
No, Turner syndrome affects girls.
Ellis-van Creveld syndrome?
DefinitionEllis-van Creveld syndrome is a rare genetic disorder that affects bone growth.Alternative NamesChondroectodermal dysplasia; EVCCauses, incidence, and risk factorsEllis-van Creveld is passed down through families (inherited). It is caused by defects in one of two Ellis van Creveld syndrome genes (EVC and EVC2) that are next to each other.The severity of the disease varies from person to person. The highest rate of the condition is seen among the Old Order Amish population of Lancaster County, Pennsylvania. It is fairly rare in the general population.SymptomsCleft lip or palateEpispadias or undescended testicle (cryptorchidism)Extra fingers (polydactyly)Limited range of motionNail problems, including missing or deformed nailsShort arms and legs, especially forearm and lower legShort height (between 3 1/2 and 5 feet tall)Sparse, absent, or fine textured hairTooth abnormalities: Peg teethWidely spaced teethTeeth present at birth (natal teeth)Delayed or missing teethSigns and testsSigns of this condition include:Growth hormone deficiencyHeart defects, such as a hole in the heart (atrial septal defect) occur in about half of all casesTests include:Chest x-rayEchocardiogramGenetic testing may be available for mutations in the EVC geneSkeletal x-rayUltrasoundUrinalysisTreatmentTreatment depends on which body system is affected and the severity of the problem. The condition itself is not treatable, but many of the complications can be treated.Support GroupsMany communities have Ellis-van Creveld support groups. Ask your health care provider or local hospital if there is one in your area.Expectations (prognosis)Many babies with this condition die in early infancy, usually due to a small chest or heart defect. Stillbirth is common.The outcome depends on which body system is involved and to what extent that body system is involved. Like most genetic conditions involving bones or the physical structure, intelligence is normal.ComplicationsBone abnormalitiesBreathing difficultyCongenital heart disease (CHD) especially atrial septal defect(ASD)Kidney diseaseCalling your health care providerCall your health care provider if your child has symptoms of this syndrome. If you have a family history of Ellis-van Creveld syndrome and your child has any symptoms, visit your health care provider.Genetic counseling can help families understand the condition and how to care for the patient.PreventionGenetic counseling is recommended for prospective parents from a high-risk group, or who have a family history of Ellis-van Creveld syndrome.
Why did evolution not occur in down syndrome?
Down Syndrome is a the addition of an extra chromosome and not really related to evolution. It is more of a genetic mutation that causes this event to occur.
Does Klinefelter's syndrome only occur in boys?
yes.
Is a set the sings and symptoms that occur together?
Syndrome.
What age does Angelman Syndrome occur?
Angel-man syndrome's usual occurrence's is after birth and is sometimes genetic.
The onset of Tourette Syndrome must occur prior to age twelve?
Tourette syndrome is characterized by uncontrollable vocalization
Where on earth does Down Syndrome most occur?
The number is the same everywhere.
Syndrome occur when the tendons that pass through the carpal tunnel are chronically overused and become inflamed and swollen?
carpal tunnel syndrome.
What is the meaning of syndrome?
Generally speaking, a syndrome is a condition that has a specific array of symptoms. According to the Encyclopedia of Phobias, Fears, and Anxieties (Second Edition), a syndrome is "a group of symptoms that occur together that constitute a recognizable condition", and that "'syndrome' is less specific than 'disorder' or 'disease', which generally imply a specific cause or disease process".
Does marfan syndrome occur more often in a certain ethnic group?
No. Marfan syndrome is found equally across all ethnicities and genders.
When does Milk-alkali syndrome occur?
It usually occurs in the treatment of peptic ulcer
