Holoprosencephaly

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.

Also Known As:

Arhinencephaly; Holoprosencephaly, Familial Alobar; Alobar Holoprosencephalies; Arhinencephalies; Holoprosencephalies; Holoprosencephalies, Alobar; Holoprosencephalies, Lobar; Holoprosencephalies, Semilobar; Holoprosencephaly, Alobar; Holoprosencephaly, Lobar; Holoprosencephaly, Semilobar; Lobar Holoprosencephalies; Semilobar Holoprosencephalies; Alobar Holoprosencephaly; Lobar Holoprosencephaly; Semilobar Holoprosencephaly

Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Holoprosencephaly: 219
Nervous System Diseases: 14178
- Nervous System Malformations: 35
  - Agenesis of Corpus Callosum: 54
    - Holoprosencephaly: 219
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Holoprosencephaly: 219
  - Chromosome Disorders: 136
    - Holoprosencephaly: 219
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Holoprosencephaly: 219
  - Nervous System Malformations: 35
    - Agenesis of Corpus Callosum: 54
      - Holoprosencephaly: 219
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Holoprosencephaly: 219

1.	Vasoactive Intestinal Peptide Receptors (Vasoactive Intestinal Peptide Receptor)IBA 11/01/1996 - "Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype."

Holoprosencephaly 3

Disease Context: Research Results

Drugs and Biologics