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XK aprosencephaly

MedGen UID:
167087
Concept ID:
C0795952
Disease or Syndrome
Synonyms: Aprosencephaly syndrome; Aprosencephaly-atelencephaly syndrome; Garcia-Lurie syndrome; XK syndrome; XK-aprosencephaly syndrome
SNOMED CT: XK aprosencephaly syndrome (1162839003); XK syndrome (1162839003); Garcia Lurie syndrome (1162839003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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).
 
Monarch Initiative: MONDO:0008811
OMIM®: 207770
Orphanet: ORPHA3469

Definition

A rare syndromic type of cerebral malformation with characteristics of aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (such as ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (such as hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. [from SNOMEDCT_US]

Clinical features

From HPO
Finger aplasia
MedGen UID:
1841564
Concept ID:
C5779506
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).
Anencephaly
MedGen UID:
8068
Concept ID:
C0002902
Congenital Abnormality
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.\n\nBecause 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.\n\nBecause these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.
Aprosencephaly
MedGen UID:
140908
Concept ID:
C0431349
Congenital Abnormality
A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVXK aprosencephaly
Follow this link to review classifications for XK aprosencephaly in Orphanet.

Recent clinical studies

Diagnosis

Renzetti G, Villani A, Bizzarri C, Chessa L, Vignati E, Gianotti A, Cappa M, Szakacs J, Townsend JJ, Miller ME, Opitz JM, Kennedy AM, Byrne JL
Am J Med Genet A 2005 Nov 1;138(4):401-10. doi: 10.1002/ajmg.a.30600. PMID: 16208689
McPherson E, Huff D, Dunn J, Muenke M
Birth Defects Res A Clin Mol Teratol 2004 Aug;70(8):537-44. doi: 10.1002/bdra.20053. PMID: 15329833
Labrune P, Trioche P, Fallet-Bianco C, Roume J, Narcy F, Le Merrer M
Am J Med Genet 1997 Dec 12;73(2):144-9. PMID: 9409864
Norman AM, Donnai D
Clin Dysmorphol 1992 Apr;1(2):121-3. doi: 10.1097/00019605-199204000-00009. PMID: 1345515
Kim TS, Cho S, Dickson DW
Acta Neuropathol 1990;79(4):424-31. doi: 10.1007/BF00308719. PMID: 2339594

Clinical prediction guides

Labrune P, Trioche P, Fallet-Bianco C, Roume J, Narcy F, Le Merrer M
Am J Med Genet 1997 Dec 12;73(2):144-9. PMID: 9409864

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