NIH Rare Diseases
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79133Disease definitionFocal 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.EpidemiologyFFDD1 has been reported in over 80 cases including three large multi-generational families (German, English, Australian) and several sporadic cases.Clinical descriptionThe 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.EtiologyEtiology is unknown.Diagnostic methodsClinical examination reveals bitemporal scars.Differential diagnosisDifferential diagnosis includes focal facial dermal dysplasia type 2 and 3 (see these terms).Antenatal diagnosisPrenatal diagnosis is not availableGenetic counselingFFDD1 is transmitted in an autosomal dominant manner with full penetrance.Management and treatmentNo specific treatment exists. There is limited experience with plastic surgery for the facial scar-like lesions.PrognosisAffected individuals have a normal intelligence and life span.Visit the Orphanet disease page for more resources.
MalaCards based summary
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Focal Facial Dermal Dysplasia, also known as
hereditary symmetrical aplastic nevi of temples, is related to
aplasia cutis congenita and
focal facial dermal dysplasia 3, setleis type. An important gene associated with Focal Facial Dermal Dysplasia is
TWIST2 (Twist Family BHLH Transcription Factor 2). Affiliated tissues include
skin, and related phenotypes are
craniofacial and
limbs/digits/tail
Wikipedia
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Focal facial dermal dysplasia (FFDD) is a rare genetically heterogeneous group of disorders that are...
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