Disease Information for Facial ectodermal dysplasia (Setleis)

Ads
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)
Ads