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Disease Information for Facial ectodermal dysplasia (Setleis)

Clinical Manifestations
Signs & Symptoms: Loose facial skin/rubbery look; Particular physiognomy/Odd looking kids
: Bulbous nose/congenital; Congenital facial deformities; Craniofacial Abnormalities/Congenital; Facies particular; Leonine Facies/Jowles; Mongoloid Facies; Prominent lips; Prominent Nose; Short upper lip; Wide Nasal Bridge
: Bitemporal circular depressions/scars congenital; Excess loose skin/child; Hypopigmentation; Increased pigmentation/tanning/hyperpigmented; Increased wrinkling/skin; Pigmented/skin folds/flexor/palmar creases; Scalp hair sparse/thin; Sparse hair distribution/Hypotrichosis
: Carious teeth/child; Carious teeth/sign; Scarlike median ridge chin; Teeth malformed/dysplastic
: Psychomotor retardation
: Snoring
: Dysmorphic appearance/face
: Abnormal double row eyelashes; Bilateral Eyelid Edema; Infra-orbital skin creases; Mongoloid eye slant/congenital/sign; Periorbital edema/Puffy eyes
Clinical Presentation & Variations: Presentation/Multiple deformities newborn (odd look)
: Presentation/Infant Loose redundant skin Face no eyelashes
Disease Progression: Course/Chronic disorder; Course/Chronic only
Demographics & Risk Factors
Population Group: Child; Infant; Population/Pediatrics population
Sex & Age Groups: Population/Child; Population/Child-Infant Only; Population/Children/all; Population/Female; Population/Infant
Associated Diseases & Rule outs
Associated Disease & Complications: Congenital anomalies; Dental caries; Dental deformities/anomalies; Facial dysplasia; Hyperpigmentation; Multiple Congenital Anomalies; Multiple congenital anomalies/Mental retardation; Teeth enamel hypoplastic
Disease Mechanism & Classification
Class: CLASS/Jablonski/NIH Archive Anomalies Database; CLASS/Pediatric disorders (ex)
: CLASS/Dermatologic/Subcutaneous (category); CLASS/Hair involvement/disorder (ex)
Pathophysiology: Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
: Pathophysiology/Subcutaneous manifestation/involvement
: Pathophysiology/Maternal Chromosome mutation
Process: PROCESS/Autosomal dominant hereditary disease (ex).; PROCESS/Autosomal recessive disorder (ex); PROCESS/Eponymic (category); PROCESS/Genetic disorder/Spontaneous mutations/sporadic; PROCESS/Genetic expressivity variable (ex); PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Extremely rare disease; PROCESS/INCIDENCE/Rare disease (ex)
: PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym: Dermal Hypoplasia Focal, Dermal Hypoplasias Focal, DHOF, ectodermal and mesodermal dysplasia with osseous involvement, FDH, FDH Focal dermal hypoplasia, Focal Dermal Hypoplasia, Focal dermal hypoplasia (disorder), focal dermal hypoplasia (FDH) syndrome, FOCAL DERMAL HYPOPLASIA SYNDROME, Focal Dermal Hypoplasias, Focal facial dermal dysplasia, focal hypoplasia dermal, FODH, FODH Focal dermal hypoplasia, Goltz Gorlin syndrome, Goltz Peterson Gorlin Ravitz syndrome, Goltz syndrome, Goltz syndrome (disorder), Goltzs Syndrome, Goltz's syndrome, Hypoplasia Focal Dermal, Hypoplasias Focal Dermal, Jessner Cole syndrome, Liebermann Cole syndrome, Syndrome Goltz, Syndrome Goltz's, Synonym/Bitemporal forceps marks syndrome, Synonym/FFDD type II, Synonym/Focal facial dermal dysplasia type II, Synonym/Setleis syndrome
Definition: Be the first to add a definition for Facial ectodermal dysplasia (Setleis)
External Links Related to Facial ectodermal dysplasia (Setleis): Google; Wikipedia; Merck; Images; PubMed (National Library of Medicine); NGC (National Guideline Clearinghouse); Medscape (eMedicine); Harrison's Online (accessmedicine); NEJM (The New England Journal of Medicine)

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