Rare Ophthalmology News

Disease Profile

Ellis-Van Creveld syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q77.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Chondroectodermal dysplasia; Mesoectodermal dysplasia; Ellis Van Creveld syndrome;

Categories

Congenital and Genetic Diseases; Heart Diseases; Kidney and Urinary Diseases;

Summary

Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of people affected by Ellis-van Creveld syndrome have changes (mutations) in the EVC or EVC2 genes; the cause of the remaining cases is unknown. The condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails

[ more ]

0001231
Abnormal heart valve morphology
0001654
Abnormal oral mucosa morphology
Abnormality of lining of mouth
0011830
Atrioventricular canal defect
0006695
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Foot polydactyly
Duplication of bones of the toes
0001829
Genu valgum
Knock knees
0002857
Hand polydactyly
Extra finger
0001161
Hypoplastic toenails
Underdeveloped toenails
0001800
Micromelia
Smaller or shorter than typical limbs
0002983
Nail dysplasia
Atypical nail growth
0002164
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Neonatal short-limb short stature
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limbed dwarfism identifiable at birth

[ more ]

0008921
Short distal phalanx of finger
Short outermost finger bone
0009882
Short thorax
Shorter than typical length between neck and abdomen
0010306
30%-79% of people have these symptoms
Abnormal oral frenulum morphology
0000190
Abnormality of pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs

[ more ]

0006703
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Capitate-hamate fusion
0001241
Conical incisor
Cone shaped front tooth
Shark tooth incisor

[ more ]

0011065
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Epispadias
0000039
Hypodontia
Failure of development of between one and six teeth
0000668
Hypospadias
0000047
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Microdontia
Decreased width of tooth
0000691
Situs inversus totalis
All organs on wrong side of body
0001696
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
5%-29% of people have these symptoms
Abnormal hair quantity
0011362
Abnormal morphology of female internal genitalia
0000008
Abnormality of bone marrow cell morphology
0005561
Acute leukemia
0002488
Cubitus valgus
Outward turned elbows
0002967
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Emphysema
0002097
Hydroureter
0000072
Intellectual disability
Mental deficiency
Mental retardation
Mental-retardation
Mental retardation, nonspecific

[ more ]

0001249
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney

[ more ]

0008678
Synostosis of carpal bones
Fusion of wrist bones
0005048
Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

0000233
Percent of people who have these symptoms is not available through HPO
Abnormality of the alveolar ridges
Abnormality of gum ridge
0006477
Acetabular spurs
0010454
Autosomal recessive inheritance
0000007
Cleft upper lip
Harelip
0000204
Common atrium
0011565
Cone-shaped epiphyses of phalanges 2 to 5
Cone-shaped end part of digital bones 2 to 5
0006035
Dandy-Walker malformation
0001305
Ectodermal dysplasia
0000968
Horizontal ribs
0000888
Hypoplastic iliac wing
0002866
Natal tooth
Born with teeth
Teeth present at birth

[ more ]

0000695
Pectus carinatum
Pigeon chest
0000768
Postaxial foot polydactyly
Extra toe attached near the little toe
0001830
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger

[ more ]

0001162
Short long bone
Long bone shortening
0003026
Short ribs
0000773
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Ellis-Van Creveld syndrome. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Ellis-Van Creveld syndrome. Click on the link to view a sample search on this topic.

          References

          1. Harold Chen, MD, MS, FAAP, FACMG. Ellis-van Creveld Syndrome. Medscape Reference. April 2015; https://emedicine.medscape.com/article/943684-overview.
          2. Ellis-van Creveld syndrome. Genetics Home Reference. December 2012; https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome.

          Rare Ophthalmology News