MCID: INN003
MIFTS: 29

Iniencephaly

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Iniencephaly

MalaCards integrated aliases for Iniencephaly:

Name: Iniencephaly 54 55 60

Characteristics:

Orphanet epidemiological data:

60
iniencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Iniencephaly

NINDS : 55 Iniencephaly is a rare birth defect caused by improper closure of the neural tube (the part of a human embryo that becomes the brain and spinal cord) during fetal development.   Iniencephaly is in the same family of neural tube defects as spina bifida, but it is more severe.  In iniencephaly, the defect results in extreme retroflexion (backward bending) of the head combined with severe distortion of the spine. Diagnosis is made immediately after birth because an infant’s head is so severely bent backward that the face looks upward.  In most infants the neck is absent and the skin of the face is connected directly to the skin of the chest, while the scalp is directly connected to the skin of the back. Most infants with iniencephaly have additional birth defects, such as anencephaly (in which major sections of the brain fail to form), cephalocele (in which part of the cranial contents protrudes from the skull), and cyclopia (in which the two cavities of the eyes fuse into one).  Additional birth defects include the lack of a lower jaw bone or a cleft lip and palate.  Other parts of the body may be affected, and infants can have cardiovascular disorders, diaphragmatic hernias, and gastrointestinal malformations. For reasons that are still unknown, the disorder is more common among females. No single gene has been identified as the cause for iniencephaly, or any of the neural tube defects.  Scientists think these defects have complex causes, mostly likely a mix of genetic and environmental factors.   

MalaCards based summary : Iniencephaly is related to open iniencephaly and closed iniencephaly. Affiliated tissues include bone, brain and spinal cord, and related phenotypes are rhizomelia and low-set ears

Wikipedia : 77 Iniencephaly, a term derived from the Greek word "inion" for nape of the neck, is a rare type of... more...

Related Diseases for Iniencephaly

Diseases related to Iniencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 open iniencephaly 12.2
2 closed iniencephaly 12.2
3 anencephaly 10.3
4 holoprosencephaly 10.2
5 neural tube defects 10.1
6 neural tube defects, folate-sensitive 10.1
7 craniorachischisis 10.1
8 chromosomal triplication 10.1
9 klippel-feil syndrome 10.0
10 patau syndrome 10.0
11 bronchogenic cyst 10.0
12 encephalocele 10.0
13 lymphangiectasis 10.0
14 mosaic trisomy 13 10.0
15 occipital encephalocele 10.0
16 alobar holoprosencephaly 10.0

Graphical network of the top 20 diseases related to Iniencephaly:



Diseases related to Iniencephaly

Symptoms & Phenotypes for Iniencephaly

Human phenotypes related to Iniencephaly:

60 33 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 rhizomelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008905
2 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
3 hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0003307
4 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
5 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
6 holoprosencephaly 60 33 frequent (33%) Frequent (79-30%) HP:0001360
7 anencephaly 60 33 frequent (33%) Frequent (79-30%) HP:0002323
8 rocker bottom foot 60 33 frequent (33%) Frequent (79-30%) HP:0001838
9 gastroschisis 60 33 frequent (33%) Frequent (79-30%) HP:0001543
10 mandibular aplasia 60 33 frequent (33%) Frequent (79-30%) HP:0009939
11 abnormality of cardiovascular system morphology 33 frequent (33%) HP:0030680
12 absent vertebra 33 frequent (33%) HP:0008465
13 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
14 cystic hygroma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000476
15 arthrogryposis multiplex congenita 60 33 occasional (7.5%) Occasional (29-5%) HP:0002804
16 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
17 anal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002023
18 abnormality of the genital system 60 33 occasional (7.5%) Occasional (29-5%) HP:0000078
19 oral cleft 60 33 occasional (7.5%) Occasional (29-5%) HP:0000202
20 dandy-walker malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001305
21 encephalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002084
22 congenital diaphragmatic hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000776
23 omphalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0001539
24 renal agenesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000104
25 duodenal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002247
26 myelomeningocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002475
27 syringomyelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003396
28 lissencephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001339
29 abnormality of the occipital bone 60 33 occasional (7.5%) Occasional (29-5%) HP:0012294
30 malformation of the heart and great vessels 60 Frequent (79-30%)
31 spina bifida 60 Frequent (79-30%)
32 spinal dysraphism 60 Very frequent (99-80%)
33 absent vertebrae 60 Frequent (79-30%)

Drugs & Therapeutics for Iniencephaly

Search Clinical Trials , NIH Clinical Center for Iniencephaly

Genetic Tests for Iniencephaly

Anatomical Context for Iniencephaly

MalaCards organs/tissues related to Iniencephaly:

42
Bone, Brain, Spinal Cord, Skin, Eye, Heart

Publications for Iniencephaly

Articles related to Iniencephaly:

(show top 50) (show all 78)
# Title Authors Year
1
Iniencephaly. ( 29377645 )
2018
2
Complex cranio-vertebral malformation: disruption sequence or iniencephaly? ( 29494358 )
2018
3
Iniencephaly Apertus: Prenatal Autopsy by Sonography and Embryoscopy. ( 28593711 )
2017
4
Iniencephaly: a case with survival of after neonatal period. ( 26043512 )
2015
5
Iniencephaly: Case Report. ( 26167231 )
2015
6
A Fetus with Iniencephaly Delivered at the Third Trimester. ( 26345271 )
2015
7
Iniencephaly Clausus: A New Case With Clinical and Imaging Findings. ( 26528385 )
2015
8
Iniencephaly and holoprosencephaly: report of a rare association. ( 25105041 )
2014
9
Two iniencephaly cases born the same day in the same hospital of Cali, Colombia. Iniencephaly cluster? ( 24810450 )
2014
10
Iniencephaly: Radiological and pathological features of a series of three cases. ( 25288843 )
2014
11
Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? ( 23011585 )
2013
12
Early prenatal diagnosis of iniencephaly associated with holoprosencephaly and cyclops. ( 23445151 )
2013
13
Iniencephaly in an adult patient. ( 22547522 )
2012
14
Three-dimensional sonography of fetal iniencephaly. ( 22837298 )
2012
15
Iniencephaly clausus: A case report with review of literature. ( 22408660 )
2011
16
Iniencephaly with mediastinal bronchogenic cyst: A case report. ( 22439066 )
2010
17
Antenatal Sonography and MRI of Iniencephaly apertus and clausus. ( 20197655 )
2010
18
The blemmy: A medieval grotesque inspired by iniencephaly? ( 20503340 )
2010
19
Iniencephaly: clinical, radiological and surgical findings. ( 21196794 )
2010
20
Recent perspectives on the genetic background of neural tube defects with special regard to iniencephaly. ( 19379086 )
2009
21
Occipital encephalocele associated with iniencephaly mimicking an unilateral nuchal tumor on prenatal ultrasound. ( 18564506 )
2008
22
Major diagnostic and pathological features of iniencephaly based on twenty-four cases. ( 18504373 )
2008
23
Iniencephaly: association with unusual congenital malformations. ( 18810349 )
2008
24
Iniencephaly and long-term survival: a rare case report. ( 17364209 )
2007
25
Antenatal diagnosis of iniencephaly: sonographic and MR correlation: a case report. ( 17673848 )
2007
26
First trimester diagnosis of iniencephaly associated with fetal malformations and trisomy 18: report of a new case and gene analysis on folate metabolism in parents. ( 17688469 )
2007
27
Iniencephaly: Prenatal diagnosis with postmortem findings. ( 17688632 )
2007
28
Prenatal diagnosis of iniencephaly. ( 17962097 )
2007
29
Iniencephaly and chromosome mosaicism: a report of two cases. ( 16131369 )
2005
30
Association of clomiphene with iniencephaly. ( 15181310 )
2004
31
Transvaginal sonographic diagnosis of iniencephaly apertus and craniorachischisis at 9 weeks' gestation. ( 14689545 )
2003
32
Iniencephaly. ( 12793315 )
2003
33
Prenatal ultrasonographic diagnosis of iniencephaly. ( 12963531 )
2003
34
Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report. ( 12478643 )
2002
35
CNS findings in iniencephaly: case report and literature review. ( 11280600 )
2001
36
Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings. ( 11494291 )
2001
37
Diagnosis of an unusual form of iniencephaly in the first trimester of pregnancy. ( 11844185 )
2001
38
Lymphangiectasis with iniencephaly. ( 11844186 )
2001
39
Iniencephaly: an uncommon neural tube defect. ( 10700705 )
2000
40
Iniencephaly: prenatal diagnosis and management. ( 10719321 )
2000
41
Notochordal remnants in human iniencephaly suggest disturbed dorsoventral axis signaling. ( 10360397 )
1999
42
Iniencephaly in a live born and not Klippel Feil syndrome. ( 10745378 )
1999
43
Iniencephaly: neuroradiological and surgical features. Case report and review of the literature. ( 9688130 )
1998
44
Iniencephaly: a report of 19 cases. ( 10216599 )
1998
45
Iniencephaly: sonographic-pathologic correlation of 19 cases. ( 8950731 )
1996
46
Iniencephaly and other neural tube defects in a litter of ferrets (Mustela putorius furo). ( 8203094 )
1994
47
Endovaginal sonographic diagnosis of iniencephaly apertus and craniorachischisis at 13 weeks, menstrual age. ( 8381132 )
1993
48
Iniencephaly: 3D-computed tomography imaging. ( 8309774 )
1993
49
Brain stem and cervical cord dysraphic lesions in iniencephaly. ( 1409145 )
1992
50
Iniencephaly. A case report. ( 1479575 )
1992

Variations for Iniencephaly

Expression for Iniencephaly

Search GEO for disease gene expression data for Iniencephaly.

Pathways for Iniencephaly

GO Terms for Iniencephaly

Sources for Iniencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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