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Anencephalus(ANPH)

MedGen UID:
8068
Concept ID:
C0002902
Congenital Abnormality
Synonyms: Absence of a large part of the brain and the skull; Anencephaly; ANPH
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Anencephalus (89369001); Anencephaly (89369001); Congenital absence of brain (89369001)
 
Gene (location): TRIM36 (5q22.3)
OMIM®: 206500

Definition

Anencephaly is characterized by the absence of cranial vault and brain tissues in the fetus. It is considered an extreme form of neural tube defect (182940) (summary by Singh et al., 2017). [from OMIM]

Additional description

From GHR
Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.Because the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed.Because these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.  https://ghr.nlm.nih.gov/condition/anencephaly

Clinical features

From HPO
Spina bifida
MedGen UID:
38283
Concept ID:
C0080178
Congenital Abnormality
Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect.Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is contained in the sac. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood.In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike in the more severe form of spina bifida, the spinal cord does not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although rarely it can cause back pain or changes in bladder function.
Anencephaly
MedGen UID:
776557
Concept ID:
C2021655
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnencephalus
Follow this link to review classifications for Anencephalus in Orphanet.

Recent clinical studies

Etiology

Borman B, Cryer C
J Paediatr Child Health 1993 Aug;29(4):282-8. doi: 10.1111/j.1440-1754.1993.tb00512.x. PMID: 8373673
Borman GB, Smith AH, Howard JK
Teratology 1986 Apr;33(2):221-30. doi: 10.1002/tera.1420330209. PMID: 3526620
Elwood JH, Elwood JM
Int J Epidemiol 1984 Mar;13(1):45-52. doi: 10.1093/ije/13.1.45. PMID: 6538186
Strassburg MA, Greenland S, Portigal LD, Sever LE
Dev Med Child Neurol 1983 Oct;25(5):632-41. doi: 10.1111/j.1469-8749.1983.tb13823.x. PMID: 6354801
Nevin NC, Johnston WP
J Med Genet 1980 Jun;17(3):203-11. doi: 10.1136/jmg.17.3.203. PMID: 6995614Free PMC Article

Diagnosis

Park MI, Kim DS
J Perinat Med 1989;17(5):329-31. PMID: 2625655
Borman GB, Howard JK, Chapman CJ
N Z Med J 1986 Mar 26;99(798):183-5. PMID: 3486390
Greenberg M, Krim EY, Mastrota VF, Rosenfeld DL, Goldman M, Fenton AN
J Reprod Med 1981 Nov;26(11):593-4. PMID: 6802970
Gardner WJ
Childs Brain 1979;5(4):361-79. doi: 10.1159/000119832. PMID: 456110
Field B
Med J Aust 1974 Jun 1;1(22):889-90. PMID: 4604096

Therapy

Elwood JH, Elwood JM
Int J Epidemiol 1984 Mar;13(1):45-52. doi: 10.1093/ije/13.1.45. PMID: 6538186
Strassburg MA, Greenland S, Portigal LD, Sever LE
Dev Med Child Neurol 1983 Oct;25(5):632-41. doi: 10.1111/j.1469-8749.1983.tb13823.x. PMID: 6354801
Elwood JM, Elwood JH
Int J Epidemiol 1982 Jun;11(2):132-7. doi: 10.1093/ije/11.2.132. PMID: 6980196
Elwood JM, Coldman AJ
Am J Epidemiol 1981 Jun;113(6):681-90. doi: 10.1093/oxfordjournals.aje.a113148. PMID: 7234857
Greenberg M, Krim EY, Mastrota VF, Rosenfeld DL, Goldman M, Fenton AN
J Reprod Med 1981 Nov;26(11):593-4. PMID: 6802970

Prognosis

Ciranni R, Fornaciari G, Nardini V, Caramella D
Med Secoli 2008;20(1):7-17. PMID: 19569409
Lekea V, Tzoumaka-Bakoula C, Golding J
Teratology 1988 Oct;38(4):347-9. doi: 10.1002/tera.1420380406. PMID: 3070811
Gardner WJ
Childs Brain 1979;5(4):361-79. doi: 10.1159/000119832. PMID: 456110
Elwood JM
Br J Prev Soc Med 1976 Mar;30(1):29-31. doi: 10.1136/jech.30.1.29. PMID: 949570Free PMC Article
Rogers SC
Br J Prev Soc Med 1976 Mar;30(1):26-8. doi: 10.1136/jech.30.1.26. PMID: 779911Free PMC Article

Clinical prediction guides

Elwood JH, Elwood JM
Int J Epidemiol 1984 Mar;13(1):45-52. doi: 10.1093/ije/13.1.45. PMID: 6538186
Strassburg MA, Greenland S, Portigal LD, Sever LE
Dev Med Child Neurol 1983 Oct;25(5):632-41. doi: 10.1111/j.1469-8749.1983.tb13823.x. PMID: 6354801
Sever LE, Emanuel I
Dev Med Child Neurol 1981 Apr;23(2):151-4. doi: 10.1111/j.1469-8749.1981.tb02436.x. PMID: 7011886
Elwood JM
Br J Prev Soc Med 1976 Mar;30(1):29-31. doi: 10.1136/jech.30.1.29. PMID: 949570Free PMC Article
Rogers SC
Br J Prev Soc Med 1976 Mar;30(1):26-8. doi: 10.1136/jech.30.1.26. PMID: 779911Free PMC Article

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