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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Focal Dermal Hypoplasia
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Ectodermal Dysplasia > Focal Dermal Hypoplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Ectodermal Dysplasia > Focal Dermal Hypoplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Ectodermal Dysplasia > Focal Dermal Hypoplasia
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Ectodermal Dysplasia > Focal Dermal Hypoplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Ectodermal Dysplasia > Focal Dermal Hypoplasia
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dysostoses > Focal Dermal Hypoplasia

Preferred term

Focal Dermal Hypoplasia  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Dermal Hypoplasia, Focal
  • Goltz Gorlin Syndrome
  • Goltz-Gorlin Syndrome
  • Goltz's Syndrome
  • Goltzs Syndrome
  • Goltz Syndrome
  • Gorlin Syndrome, Goltz
  • Syndrome, Goltz
  • Syndrome, Goltz Gorlin
  • Syndrome, Goltz-Gorlin
  • Syndrome, Goltz's

Note

  • do not confuse entry term GOLTZ-GORLIN SYNDROME with GORLIN-GOLTZ SYNDROME see BASAL CELL NEVUS SYNDROME

Scope note

  • A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.

History note

  • 91(85); was see under ECTODERMAL DYSPLASIA 1987-90, was see under ECTODERMAL DEFECT, CONGENITAL 1985-86; GOLTZ-GORLIN SYNDROME was see FOCAL DERMAL HYPOPLASIA 1985-92

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URI

http://www.yso.fi/onto/mesh/D005489

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