0
Ellis-van Creveld syndrome is a rare genetic disorder that affects bone growth.
Alternative NamesChondroectodermal dysplasia; EVC
Causes, 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.
Symptoms- Cleft lip or palate
- Epispadias or undescended testicle (cryptorchidism)
- Extra fingers (polydactyly)
- Limited range of motion
- Nail problems, including missing or deformed nails
- Short arms and legs, especially forearm and lower leg
- Short height (between 3 1/2 and 5 feet tall)
- Sparse, absent, or fine textured hair
- Tooth abnormalities:
- Peg teeth
- Widely spaced teeth
- Teeth present at birth (natal teeth)
- Delayed or missing teeth
Signs of this condition include:
- Growth hormone deficiency
- Heart defects, such as a hole in the heart (atrial septal defect) occur in about half of all cases
Tests include:
- Chest x-ray
- Echocardiogram
- Genetic testing may be available for mutations in the EVC gene
- Skeletal x-ray
- Ultrasound
- Urinalysis
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 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.
Complications- Bone abnormalities
- Breathing difficulty
- Congenital heart disease (CHD) especially atrial septal defect(ASD)
- Kidney disease
Call 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.
Wiki User
∙ 13y ago
Wiki User
∙ 12y agoEllis-van Creveld syndrome is a rare genetic disorder that affects bone growth.
Alternative NamesChondroectodermal dysplasia; EVC
Causes, 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.
Symptoms- Cleft lip or palate
- Epispadias or undescended testicle (cryptorchidism)
- Extra fingers (polydactyly)
- Limited range of motion
- Nail problems, including missing or deformed nails
- Short arms and legs, especially forearm and lower leg
- Short height (between 3 1/2 and 5 feet tall)
- Sparse, absent, or fine textured hair
- Tooth abnormalities:
- Peg teeth
- Widely spaced teeth
- Teeth present at birth (natal teeth)
- Delayed or missing teeth
Signs of this condition include:
- Growth hormone deficiency
- Heart defects, such as a hole in the heart (atrial septal defect) occur in about half of all cases
Tests include:
- Chest x-ray
- Echocardiogram
- Genetic testing may be available for mutations in the EVC gene
- Skeletal x-ray
- Ultrasound
- Urinalysis
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 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.
Complications- Bone abnormalities
- Breathing difficulty
- Congenital heart disease (CHD) especially atrial septal defect(ASD)
- Kidney disease
Call 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.
Reviewed ByReview Date: 08/04/2011
Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
Add your answer:
Earn +20 pts
When was Martin van Creveld born?
Martin van Creveld was born in 1946.
What has the author A van Creveld written?
A. van Creveld has written: 'Lessing's Nathan der Weise en de humaniteitsleer des Jodendoms'
What has the author Martin Van Creveld written?
Martin Van Creveld has written: 'On future war' -- subject(s): History, Military art and science, Military history, Modern, Modern Military history, War, World politics 'The changing face of war' -- subject(s): Military history, Modern, Modern Military history 'The Age of Airpower'
What has the author Martin L Van Creveld written?
Martin L. Van Creveld has written: 'Nuclear proliferation and the future of conflict' -- subject(s): Nuclear nonproliferation, War (International law), Military policy 'Technology and war' -- subject(s): History, Military History, Military art and science, Technology 'The Encyclopedia of Revolutions and Revolutionaries' 'The transformation of war' -- subject(s): History, Military art and science, Military history, Modern, Modern Military history, War, World politics 'Command in war' -- subject(s): History, Command of troops, Command and control systems 'The rise and decline of the state' -- subject(s): State, The, The State, World politics 'Hitler's strategy 1940-1941' -- subject(s): Campaigns, World War, 1939-1945 'Supplying war' -- subject(s): History, Logistics, Military art and science, Military history, Modern, Modern Military history 'The art of war' -- subject(s): War (Philosophy), Military art and science, History 'Air power and maneuver warfare' -- subject(s): Maneuver warfare, Case studies, Air power
Widely spaced teeth?
DefinitionWidely spaced teeth can be a temporary condition related to normal growth and the development of adult teeth. Wide spacing can also occur as a result of several diseases or continued growth of the jawbone.Alternative NamesTeeth - widely spacedCommon CausesAcromegalyEllis-van Creveld syndromeInjuryMorquio syndromeNormal growth (temporary widening)Possible gum diseaseSanfilippo syndromeTooth shifting due to missing teethHome CareAsk your dentist if braces can help if the appearance is bothersome.Call your health care provider ifCall your health care provider if:Your child's teeth or jaws appear to be developing abnormallyOther symptoms accompany the appearance of widely spaced teethWhat to expect at your health care provider's officeDiagnostic tests that may be performed include:Dental x-raysFacial or skull x-rays
Tooth formation - delayed or absent?
Alternative NamesDelayed or absent tooth formation; Teeth - delayed or absent formationConsiderationsThe timing of the first appearance of teeth varies. Most infants get their first tooth between 6 and 9 months, although earlier or later eruption may be normal.In some cases, children or adults are missing teeth they never developed. In such cases cosmetic or orthodontic dentistry can correct the absence of those teeth.Common CausesSpecific diseases can have a profound effect on tooth shape, tooth color, time of appearance, or tooth absence. Delayed or absent tooth formation can result from many different conditions, including:Apert syndromeCleidocranial dysostosisDown syndromeEctodermal dysplasiaEllis-van Creveld syndromeHypothyroidismHypoparathyroidismIncontinentia pigmenti achromiansProgeriaCall your health care provider ifIf your child has not developed any teeth by the time the child is 9 months old, consult your health care provider.What to expect at your health care provider's officeThe health care provider will perform a physical examination, including a detailed examination of the mouth and gums, and ask questions such as:In what order did the teeth emerge?At what age did other family members develop teeth?Are there any other family members that have teeth that never "came in"?What other symptoms are also present?An infant with delayed or absent tooth formation may have other symptoms and signs that, when taken together, define a specific syndrome or condition.Diagnostic tests are usually not necessary unless a disorder is suspected as the cause. Most often, delayed tooth formation is a normal finding. Occasionally, dental x-rays will be needed.
Tooth - abnormal shape?
DefinitionAn abnormally shaped tooth is any tooth that has an irregular shape.Alternative NamesHutchinson incisors; Abnormal tooth shape; Peg teeth; Mulberry teeth; Conical teethConsiderationsThe appearance of normal teeth varies, especially the molars. Abnormally shaped teeth can result from many different conditions. Specific diseases can have a profound effect on tooth shape, tooth color, time of appearance, or absence of teeth.Common CausesCongenital syphilisCerebral palsyEctodermal dysplasia, anhidroticIncontinentia pigmenti achromiansCleidocranial dysostosisEhlers-Danlos syndromeEllis-van Creveld syndromeCall your health care provider ifIf the shape of your child's teeth appears to be abnormal, consult a dentist or other health care provider.What to expect at your health care provider's officeThe dentist will examine the mouth and teeth. You will be asked questions about your child's medical history and symptoms, such as:Does the child have any medical conditions that may cause abnormal tooth shape?At what age did the teeth appear?In what order did the teeth appear?Are there other tooth problems (color, spacing)?What other symptoms are also present?Diagnostic tests that may be performed may include dental x-rays.
Polydactyly?
DefinitionPolydactyly is a condition in which a person has more than five fingers per hand or five toes per foot.Alternative NamesExtra digits; Supernumerary digitsConsiderationsHaving an abnormal number of digits (6 or more) can occur on its own, without any other symptoms or disease. Polydactyly may be passed down (inherited) in families. This trait involves only one gene that can cause several variations.African Americans, more than other ethnic groups, can inherit a 6th finger. In most cases, this is not caused by a genetic disease.Polydactyly can also occur with some genetic diseases.Extra digits may be poorly developed and attached by a small stalk (generally on the little finger side of the hand). Or, they may be well-formed and may even function. Poorly formed digits are usually removed. Simply tying a tight string around the stalk can cause it to fall off in time if there are no bones in the digit.Larger digits may need surgery to be removed. The doctor should ask the parents whether there was polydactyly at birth, because a person may not know they have it.Common CausesAsphyxiating thoracic dystrophyCarpenter syndromeEllis-van Creveld syndrome (chondroectodermal dysplasia)Familial polydactylyLaurence-Moon-Biedl syndromeRubinstein-Taybi syndromeSmith-Lemli-Opitz syndromeTrisomy 13Home CareHome care may be needed after surgery to remove an extra digit. For example, you will need to check the surgical area to make sure that it is healing correctly and to change the dressing.Call your health care provider ifThis condition is normally discovered at birth and evaluated during the newborn's hospital stay.What to expect at your health care provider's officeThe doctor will diagnose the condition based on a family history, medical history, and physical examination.Medical history questions may include:Have any other family members been born with extra fingers or toes?Is there a known family history of any of the disorders linked to polydactyly?Are there any other symptoms or problems?Tests used to diagnose the condition:Chromosome studiesEnzymetestsX-raysMetabolic studiesAfter seeing your health care provider, you may want to add a note to your personal medical record about polydactyly, its diagnosis, and treatment.During pregnancy, this condition may be diagnosed with ultrasound or a more advanced test called embryofetoscopy during the first three months (trimester).ReferencesHosalkar HS, Spiegel DA, Davidson RS. Toe deformities. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds.Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 666.10. Reviewed ByReview Date: 11/07/2011Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
Natal teeth?
DefinitionNatal teeth are teeth that are already present at the time of birth. They are different from neonatal teeth, which grow in during the first 30 days after birth.Alternative NamesFetal teethConsiderationsNatal teeth are relatively uncommon, appearing in about one in every 2,000 to 3,000 births. Although most natal teeth are isolated incidents, their presence may be associated with certain medical syndromes.Natal teeth generally develop on the lower gum, where the central incisor teeth will appear. They have little root structure and are attached to the end of the gum by soft tissue and are often wobbly.Natal teeth are usually not well formed, but they are firm enough that, because of their placement, they may cause irritation and injury to the infant's tongue when nursing. Natal teeth may also be uncomfortable for a nursing mother.Frequently, natal teeth are removed shortly after birth while the newborn infantis still in the hospital, especially if the tooth is loose and the child runs a risk of aspiration, or "breathing in" the tooth.Common CausesMost of the time, natal teeth are not related to a medical condition. However, sometimes they may be associated with:Ellis-van Creveld syndromeHallermann-Streiff syndromePierre Robin syndromeSoto syndromeHome CareIf the teeth are not removed, keep them clean by gently wiping the gums and teeth with a clean, damp cloth. Examine the infant's gums and tongue frequently to make sure the teeth are not causing injury.Call your health care provider ifCall your doctor if an infant with natal teeth develops a sore tongue or mouth or other symptoms.What to expect at your health care provider's officeThis finding is usually discovered by the health care provider during the initial examination of the infant, and often no further documentation is needed other than just to note that there were teeth present at birth.Dental x-raysmay be considered. If there are signs of any condition that can be associated with natal teeth, examination and testing for that condition will be performed.
Cyanotic heart disease?
DefinitionCyanotic heart disease is a heart defect, present at birth (congenital), that results in low blood oxygen levels. There may be more than one defect.Alternative NamesRight-to-left cardiac shunt; Right-to-left circulatory shuntCauses, incidence, and risk factorsNormally, blood returns from the body and flows through the heart and lungs. It will then leave the heart with enough oxygen to supply the body's tissues.Heart defects can change the way blood flows through the heart and lungs. This abnormal blood flow (called right-to-left shunt) can result in too little oxygen in the blood moving through the rest of the body.Cyanotic heart disease causes the child's skin to look blue (cyanosis). This bluish color is most often seen on the lips, fingers, and toes, or during exercise. Some heart defects cause major problems immediately after birth. Others cause few, if any, problems until adulthood.Congenital heart defects that may cause cyanosis include:Coarctation of the aortaCritical pulmonary valvular stenosisEbstein's anomalyHypoplastic left heart syndromeInterrupted aortic archPulmonary valve atresiaPulmonic stenosis with an atrial or ventricular septal defectSome forms of total anomalous pulmonary venous returnTetralogy of FallotTotal anomalous pulmonary venous returnTransposition of the great vesselsTricuspid atresia (a deformity of the tricuspid heart valve)Truncus arteriosusCyanotic heart diseases may be caused by:Chemical exposureGenetic and chromosomal syndromes, such as Down syndrome, trisomy 13, Turner syndrome, Marfan syndrome, Noonan syndrome, and Ellis-van Creveld syndromeInfections (such as rubella) during pregnancyPoorly controlled blood sugar levels in women who have diabetes during pregnancySome prescription and over-the-counter medications and street drugs used during pregnancyCyanosis may also be caused by conditions other than congenital heart disease. Such conditions may include lung disease, abnormal forms of hemoglobin (the protein that carries oxygen through the blood), dehydration, and hypoglycemia.SymptomsOne symptom is cyanosis, which usually seen as a bluish discoloration of the lips, fingers, and toes.Some children have breathing problems (dyspnea) and get into a squatting position after physical activity to relieve breathlessness.Others have spells, in which their bodies are suddenly starved of oxygen. During these spells, symptoms may include:AnxietyOverbreathing (hyperventilation)Sudden increase in cyanosisInfants may get tired or sweat while feeding and may not gain as much weight as they should.Fainting (syncope) and chest pain may occur.Other symptoms depend on the specific type of cyanotic heart disease, and may include:Bluish or grayish skinFeeding problems or reduced appetitePuffy eyes or faceTiredness all the timeSigns and testsPhysical examination confirms cyanosis. The child may have clubbed fingers.The doctor will listen to the heart and lungs with a stethoscope. Abnormal heart sounds, a heart murmur, and lung crackles may be heard.Tests will vary depending on the cause, but may include:Chest x-rayComplete blood count (CBC)Transcutaneous oxygen monitor (pulse oximeter)Arterial blood gasECG(echocardiogram)Echo-DopplerTransesophageal echocardiogram (TEE)Nuclear imaging testsCardiac catheterizationElectrophysiologic study (EPS)MRI of the heartTreatmentSome infants may need to stay in the hospital after birth so they can receive oxygen or be put on a breathing machine. They may receive medicines to:Get rid of extra fluidsHelp the heart pump harderKeep certain blood vessels openTreat abnormal heartbeats or rhythmsThe treatment of choice for many congenital heart diseases is surgery to repair the defect. There are many types of surgery, depending on the kind of birth defect. Surgery may be needed soon after birth, or it may be delayed for months or even years.Your child may need to take water pills (diuretics) and other heart medicines before or after surgery. Be sure to follow the correct dosage. Regular follow-up with your doctor is important.Many children who have had heart surgery must take antibiotics before, and sometimes after having any dental work or other medical procedures. Make sure you have clear instructions from your child's heart doctor. It is very important to have your child's teeth cleaned regularly.Ask your child's doctor before getting any immunizations. However, in general, your child should have a flu shot every year and keep up with all other immunizations.Some patients may need a permanent pacemaker.Expectations (prognosis)See the specific disorder. Some of these conditions may cause sudden death.ComplicationsComplications of cyanotic heart disease include:ArrhythmiasBrain abscessHeart failureHemoptysis(coughing up blood)Impaired growthInfectious endocarditisPolycythemiaPulmonary hypertensionStrokeCyanosis is a sign of Eisenmenger syndrome, a condition that occurs in patients with congenital heart disease. Eisenmenger syndrome occurs as a complication of increased blood flow from the left side of the heart directly to the lungs. This results in severe lung diseases and increased pressure on the right side of the heart.Calling your health care providerCall your health care provider if your baby has:Bluish skin (cyanosis) or grayish skinBreathing difficultyChest pain or other painDizziness, fainting, or heart palpitationsFeeding problems or reduced appetiteFever, nausea, or vomitingPuffy eyes or faceTiredness all the timePreventionAvoid using alcohol and drugs during pregnancy. Women who are (or think they might be) pregnant should notify their doctor before receiving prescriptions for medications. Women with manic-depressive disorder should consult their health care provider about the risks and benefits of various treatments for this condition during pregnancy.The immune status for rubella should be evaluated early in the pregnancy. If the mother is not immune she must avoid any possible exposure to rubella and should be immunized immediately after delivery. Genetic counseling may be helpful if there is a family history of genetic disorders associated with congenital heart disease.Some inherited factors may play a role in congenital heart disease. It is rare, but not impossible for more than one child in a family to have a congenital heart defect. Talk to your health care provider about screening.ReferencesWebb GD, Smallhorn JF, Therrien J, Redington AN. Congenital heart disease. In: Zipes DP, Libby P, Bonow RO, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 8th ed. St. Louis, Mo; WB Saunders; 2007:chap 61.Cyanotic congenital heart disease: Evaluation of the critically ill neonate with cyanosis and respiratory distress. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 429.
