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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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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

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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.

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Not applicable

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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.
orphanet

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.

Clinical description
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
Etiology is unknown.

Diagnostic methods
Clinical examination reveals bitemporal scars.

Differential diagnosis
Differential diagnosis includes focal facial dermal dysplasia type 2 and 3 (see these terms).

Antenatal diagnosis
Prenatal diagnosis is not available

Genetic counseling
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.

Prognosis
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
Autosomal dominant inheritance
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.