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Disease Profile
Focal facial dermal dysplasia
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.
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.
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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)
Brauer syndrome; Bitemporal aplasia cutis congenita; Hereditary symmetrical aplastic nevi of temples;
Categories
Congenital and Genetic Diseases; Skin Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 79133
Definition
Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome , is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia.
Epidemiology
FFDD1 has been reported in over 80 cases including three large multi-generational families (German, English, Australian) and several sporadic cases.
The bitemporal, rarely unilateral, hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Other very rarely described and usually mild facial dysmorphic features may comprise a low frontal hairline, sparse hair, sparse lateral eyebrows, distichiasis (upper lashes), flattened nasal tip, bulbous nasal tip, prominent upper lip, skin dimples lateral to lips, horizontal chin furrow, vertical chin cleft, and linear grooves on the forehead. Most patients usually have normal intelligence.
Etiology is unknown.
Clinical examination reveals bitemporal scars.
Differential diagnosis includes focal facial dermal dysplasia type 2 and 3 (see these terms).
Prenatal diagnosis is not available
FFDD1 is transmitted in an autosomal dominant manner with full penetrance.
Management and treatment
No specific treatment exists. There is limited experience with plastic surgery for the facial scar-like lesions.
Affected individuals have a normal intelligence and life span.
Visit the Orphanet disease page for more resources.
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 facial shape |
Unusual facial appearance
|
0001999 |
| Absent eyelashes |
Failure of development of eyelashes
|
0000561 |
| Aplasia cutis congenita |
Absence of part of skin at birth
|
0001057 |
| Atrophic scars |
Sunken or indented skin due to damage
|
0001075 |
| Distichiasis | 0009743 | |
| Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
| Skin dimple | 0010781 | |
| Sparse hair | 0008070 | |
| Spotty hyperpigmentation |
Spotty increased pigmentation
|
0005585 |
| Spotty hypopigmentation |
Patchy hypopigmentation
Spotty decreased pigmentation
[ more ] |
0005590 |
| Vertical forehead creases |
Frontal creases of face
Vertical forehead wrinkles
[ more ] |
0011221 |
| 30%-79% of people have these symptoms | ||
| Bulbous nose | 0000414 | |
| Depressed nasal tip |
Caved in nasal tip
Depressed tip of nose
Flat nasal tip
Flat tip of nose
Flattened nasal tip
Nasal tip, depressed
[ more ] |
0000437 |
| Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
| Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ] |
0000307 |
| Sparse lateral eyebrow |
Limited hair on end of eyebrow
|
0005338 |
| 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 | ||
| 0000006 | ||
| Bitemporal forceps marks | 0011336 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
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.
In-Depth Information
- 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 Focal facial dermal dysplasia. Click on the link to view a sample search on this topic.