Related MeSH Hierarchy (7)
Diseases [C] » Musculoskeletal Diseases [C05] » Musculoskeletal Abnormalities » Craniofacial Abnormalities » Holoprosencephaly
Diseases [C] » Nervous System Diseases [C10] » Nervous System Malformations » Agenesis of Corpus Callosum » Holoprosencephaly
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » Holoprosencephaly
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Chromosome Disorders » Holoprosencephaly
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Musculoskeletal Abnormalities » Craniofacial Abnormalities » Holoprosencephaly
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Nervous System Malformations » Agenesis of Corpus Callosum » Holoprosencephaly
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Chromosome Disorders » Holoprosencephaly
Description
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. MeSH
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