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Disease Information for Focal dermal hypoplasia syndrome/Goltz

Clinical Manifestations
Signs & Symptoms: Facial ectodermal hypoplasia/thin skin/hypohidric; Skin atrophy/Poikiloderma; Small nails/congenital
: Nystagmus
: Blue Sclera
Demographics & Risk Factors
Population Group: Child; Population/Pediatrics population
Sex & Age Groups: Population/Child; Population/Female
Associated Diseases & Rule outs
Associated Disease & Complications: Coloboma; Congenital Nystagmus; Dental deformities/anomalies; Focal Dermal Hypoplasia Syndrome; Polydactyly/Supernumery digits; Strabismus; Syndactyly/Webbing; Vertebral anomalies
Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex)
: CLASS/Dermatologic/Subcutaneous (category)
Pathophysiology: Pathophysiology/Gene locus Chromosome X.; Pathophysiology/Sporadic/hereditary/process; Pathophysiology/X-linked dominant allele/Heterozygous
: Pathophysiology/Maternal Chromosome mutation
Process: PROCESS/Eponymic (category); PROCESS/Genetic disorder/Spontaneous mutations/sporadic; PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Rare disease (ex); PROCESS/X-Linked dominant inheritance (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/Goltz-Gorlin syndrome, Synonym/Goltz's syndrome
Definition: Be the first to add a definition for Focal dermal hypoplasia syndrome/Goltz
External Links Related to Focal dermal hypoplasia syndrome/Goltz: 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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