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Disease Profile
Facial ectodermal dysplasia
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
Q82.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Setleis syndrome; Bitemporal forceps marks syndrome; Focal facial dermal dysplasia type 2;
Categories
Congenital and Genetic Diseases; Skin Diseases
Summary
Orpha Number: 1807
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 hair pattern |
Abnormal distribution of hair
|
0010720 |
Abnormality of the sacroiliac joint | 0100781 | |
Aplasia/Hypoplasia of the skin |
Absent/small skin
Absent/underdeveloped skin
[ more ] |
0008065 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
Dimple chin |
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ] |
0010751 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Prematurely aged appearance |
Precociously senile appearance
|
0007495 |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ] |
0001582 |
30%-79% of people have these symptoms | ||
Abnormality of the upper urinary tract | 0010935 | |
Anal atresia |
Absent anus
|
0002023 |
Distichiasis | 0009743 | |
Epicanthus |
Prominent eye folds
Eye folds
[ more ] |
0000286 |
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 |
Short philtrum | 0000322 | |
Sparse lateral eyebrow |
Limited hair on end of eyebrow
|
0005338 |
Sparse lower eyelashes |
Scanty lower eyelashes
Thin lower eyelashes
[ more ] |
0007776 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
5%-29% of people have these symptoms | ||
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Lacrimation abnormality |
Abnormality of tear production
|
0000632 |
Multiple cafe-au-lait spots | 0007565 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
1%-4% of people have these symptoms | ||
Bitemporal forceps marks | 0011336 | |
Bulbous nose | 0000414 | |
Chin with horizontal crease |
Chin with horizontal groove
Horizontal chin skin cleft
[ more ] |
0011823 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
Periorbital fullness |
Puffiness around eye
|
0000629 |
Thick upper lip vermilion |
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip
[ more ] |
0000215 |
Percent of people who have these symptoms is not available through HPO | ||
Absent lower eyelashes |
Failure of development of lower eyelashes
|
0007646 |
Aged leonine appearance | 0008509 | |
0000007 | ||
Sparse hair | 0008070 |
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
-
Canadian Ectodermal Dysplasia Syndromes Association (CEDSA)
124 Lochiel Street
Ontario , K7V 1W7 Canada
Telephone: +1-613-432-9732
E-mail: [email protected]
Website: https://www.ectodermaldysplasia.ca/ -
National Foundation for Ectodermal Dysplasias
6 Executive Drive
Suite 2
Fairview Heights, IL 62258-1360
Telephone: +1-618-566-2020
Fax: +1-618-566-4718
E-mail: [email protected]
Website: https://www.nfed.org/
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
- The New Zealand Dermatolgical Society's Web site has information on ectodermal dysplasia. Click on the link above to view this information page.
In-Depth Information
- Medscape Reference provides information on ectodermal dysplasias. 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 Facial ectodermal dysplasia. Click on the link to view a sample search on this topic.