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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Holoprosencephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Holoprosencephaly
Pathological Conditions, Signs and Symptoms > Pathological Conditions, Anatomical > Agenesis of Corpus Callosum > Holoprosencephaly
Nervous System Diseases > Nervous System Malformations > Agenesis of Corpus Callosum > Holoprosencephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Agenesis of Corpus Callosum > Holoprosencephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Holoprosencephaly
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Holoprosencephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Holoprosencephaly

Preferred term

Holoprosencephaly  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Alobar Holoprosencephalies
  • Alobar Holoprosencephaly
  • Arhinencephalies
  • Arhinencephaly
  • Holoprosencephalies, Alobar
  • Holoprosencephalies, Lobar
  • Holoprosencephalies, Semilobar
  • Holoprosencephaly, Alobar
  • Holoprosencephaly, Lobar
  • Holoprosencephaly, Semilobar
  • Lobar Holoprosencephalies
  • Lobar Holoprosencephaly
  • Semilobar Holoprosencephalies
  • Semilobar Holoprosencephaly

Scope note

  • Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.

History note

  • 91

In other languages

  • holoprosenkefalia

    Finnish

  • etuaivojen jakautumattomuus
  • holoprosencephalia
  • holoprosenkephalia
  • Holoprosencefali

    Swedish

  • Arhinencefali
  • Lobär holoprosencefali
  • Semilobär holoprosencefali

URI

http://www.yso.fi/onto/mesh/D016142

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