BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuEllis-van Creveld syndromeChondroectodermal dysplasia; EVCEllis-van Creveld syndrome is a rare genetic disorder that affects bone growth. Causes Ellis-van Creveld is passed down through families (inherited). It is caused by defects in 1 of 2 Ellis-van Creveld syndrome genes (EVC and EVC2). These genes are positioned next to each other on the same chromosome.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. Symptoms Symptoms may include:Cleft lip or palate Cleft lip or palateCleft lip and palate are birth defects that affect the upper lip and the roof of the mouth.ImageRead Article Now Book Mark Article Epispadias or undescended testicle (cryptorchidism) EpispadiasEpispadias is a rare defect that is present at birth. In this condition, the urethra does not develop into a full tube. The urethra is the tube tha...Read Article Now Book Mark Article Undescended testicleUndescended testicle occurs when one or both testicles fail to move into the scrotum before birth.ImageRead Article Now Book Mark Article Extra fingers (polydactyly) PolydactylyPolydactyly is a condition in which a person has more than 5 fingers per hand or 5 toes per foot.ImageRead Article Now Book Mark Article Limited range of motion Limited range of motion Limited range of motion is a term meaning that a joint or body part cannot move through its normal range of motion.ImageRead Article Now Book Mark Article Nail problems, including missing or deformed nails Nail problemsNail abnormalities are problems with the color, shape, texture, or thickness of the fingernails or toenails.ImageRead Article Now Book Mark Article Short arms and legs, especially forearm and lower leg Short height, between 3.5 to 5 feet (1 to 1.5 meters) tall Sparse, absent, or fine textured hair Tooth abnormalities, such as peg teeth, widely-spaced teeth Peg teethAn abnormally shaped tooth is any tooth that deviates from its regular shape.Read Article Now Book Mark Article Widely-spaced teethWidely spaced teeth can be a temporary condition related to normal growth and development of adult teeth. Wide spacing can also occur as a result of...Read Article Now Book Mark Article Teeth present at birth (natal teeth) Natal teethNatal teeth are teeth that are already present at birth. They are different from neonatal teeth, which grow in during the first 30 days after birth....ImageRead Article Now Book Mark Article Delayed or missing teethDelayed or missing teethWhen a person's teeth grow in, they may be delayed or not occur at all.ImageRead Article Now Book Mark Article Exams and Tests Signs of this condition include:Growth hormone deficiency Growth hormone deficiencyGrowth hormone deficiency means the pituitary gland does not make enough growth hormone.ImageRead Article Now Book Mark Article Heart defects, such as a hole in the heart (atrial septal defect), occur in about half of all casesAtrial septal defectAtrial septal defect (ASD) is a heart defect that is present at birth (congenital). As a baby develops in the womb, a wall (septum) forms that divide...ImageRead Article Now Book Mark Article Tests include:Chest x-ray Chest x-rayA chest x-ray is an x-ray of the chest, lungs, heart, large arteries, ribs, and diaphragm.ImageRead Article Now Book Mark Article Echocardiogram EchocardiogramAn echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...ImageRead Article Now Book Mark Article Genetic testing may be performed for mutations in one of the two EVC genes Skeletal x-ray x-rayX-rays are a type of electromagnetic radiation, just like visible light. An x-ray machine sends individual x-ray particles through the body. The im...ImageRead Article Now Book Mark Article Ultrasound UrinalysisUrinalysisUrinalysis is the physical, chemical, and microscopic examination of urine. It involves a number of tests to detect and measure various compounds th...ImageRead Article Now Book Mark Article Treatment Treatment 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 Groups Many communities have EVC support groups. Ask your health care provider or local hospital if there is one in your area. Outlook (Prognosis) Many babies with this condition die in early infancy. Most often this is due to a small chest or heart defect. Stillbirth is common.Stillbirth A stillbirth is when a baby dies in the womb during the last 20 weeks of pregnancy. A miscarriage is a fetal loss in the first half of pregnancy...Read Article Now Book Mark Article The outcome depends on which body system is involved and to what extent that body system is involved. Like many genetic conditions involving bones or the physical structure, intelligence is normal. Possible Complications Complications may include:Bone abnormalities Breathing difficulty Breathing difficultyBreathing difficulty may involve:Difficult breathing Uncomfortable breathingFeeling like you are not getting enough airImageRead Article Now Book Mark Article Congenital heart disease (CHD) especially atrial septal defect (ASD) Congenital heart diseaseCongenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth.ImageRead Article Now Book Mark Article Atrial septal defectAtrial septal defect (ASD) is a heart defect that is present at birth (congenital). As a baby develops in the womb, a wall (septum) forms that divide...ImageRead Article Now Book Mark Article Kidney disease When to Contact a Medical Professional Contact your provider if your child has symptoms of this syndrome. If you have a family history of EVC syndrome and your child has any symptoms, visit your provider.Genetic counseling can help families understand the condition and how to care for the person. Prevention Genetic counseling is recommended for prospective parents from a high-risk group, or who have a family history of EVC syndrome.Open ReferencesReferencesChitty LS, Wilson LC, Ushakov F. Diagnosis and management of fetal skeletal abnormalities. In: Pandya PP, Oepkes D, Sebire NJ, Wapner RJ, eds. Fetal Medicine: Basic Science and Clinical Practice. 3rd ed. Philadelphia, PA: Elsevier; 2020:chap 34.Hecht JT, Horton WA. Other inherited disorders of skeletal development. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 720.AllVideoImagesTogPolydactyly - an infant's hand - illustration Extra digits may be present as an isolated finding, or they may occur as part of a syndrome, in which case other abnormalities are usually present. Polydactyly - an infant's handillustrationChromosomes and DNA - illustration Humans typically have 23 pairs of chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the body's genes.Chromosomes and DNAillustrationPolydactyly - an infant's hand - illustration Extra digits may be present as an isolated finding, or they may occur as part of a syndrome, in which case other abnormalities are usually present. Polydactyly - an infant's handillustrationChromosomes and DNA - illustration Humans typically have 23 pairs of chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the body's genes.Chromosomes and DNAillustrationRelated Information Growth hormone deficiency - children(Condition)Autosomal recessive(Special Topic)Breathing difficulty(Symptoms)Congenital heart disease(Condition) Review Date: 7/30/2021 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. 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