MCID: INN003
MIFTS: 30

Iniencephaly

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

Aliases & Classifications for Iniencephaly

MalaCards integrated aliases for Iniencephaly:

Name: Iniencephaly 53 54 59

Characteristics:

Orphanet epidemiological data:

59
iniencephaly
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Iniencephaly

NINDS : 54 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 low-set ears and hydrocephalus

Wikipedia : 76 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 14)
# 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 klippel-feil syndrome 10.0
9 bronchogenic cyst 10.0
10 encephalocele 10.0
11 lymphangiectasis 10.0
12 mosaic trisomy 13 10.0
13 occipital encephalocele 10.0
14 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:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
2 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
3 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
4 cystic hygroma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000476
5 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
6 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
7 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
8 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
9 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
10 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
11 holoprosencephaly 59 32 frequent (33%) Frequent (79-30%) HP:0001360
12 abnormality of the genital system 59 32 occasional (7.5%) Occasional (29-5%) HP:0000078
13 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
14 dandy-walker malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001305
15 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
16 anencephaly 59 32 frequent (33%) Frequent (79-30%) HP:0002323
17 lissencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001339
18 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
19 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
20 rocker bottom foot 59 32 frequent (33%) Frequent (79-30%) HP:0001838
21 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
22 duodenal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002247
23 myelomeningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002475
24 gastroschisis 59 32 frequent (33%) Frequent (79-30%) HP:0001543
25 mandibular aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0009939
26 syringomyelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003396
27 abnormality of the occipital bone 59 32 occasional (7.5%) Occasional (29-5%) HP:0012294
28 malformation of the heart and great vessels 59 Frequent (79-30%)
29 spina bifida 59 Frequent (79-30%)
30 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
31 spinal dysraphism 59 Very frequent (99-80%)
32 absent vertebrae 59 Frequent (79-30%)
33 absent vertebra 32 frequent (33%) HP:0008465

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:

41
Bone, Brain, Spinal Cord, Skin, Eye, Heart

Publications for Iniencephaly

Articles related to Iniencephaly:

(show top 50) (show all 78)
# Title Authors Year
1
Complex cranio-vertebral malformation: disruption sequence or iniencephaly? ( 29494358 )
2018
2
Iniencephaly. ( 29377645 )
2018
3
Iniencephaly Apertus: Prenatal Autopsy by Sonography and Embryoscopy. ( 28593711 )
2017
4
Iniencephaly Clausus: A New Case With Clinical and Imaging Findings. ( 26528385 )
2015
5
Iniencephaly: Case Report. ( 26167231 )
2015
6
A Fetus with Iniencephaly Delivered at the Third Trimester. ( 26345271 )
2015
7
Iniencephaly: a case with survival of after neonatal period. ( 26043512 )
2015
8
Iniencephaly and holoprosencephaly: report of a rare association. ( 25105041 )
2014
9
Iniencephaly: Radiological and pathological features of a series of three cases. ( 25288843 )
2014
10
Two iniencephaly cases born the same day in the same hospital of Cali, Colombia. Iniencephaly cluster? ( 24810450 )
2014
11
Early prenatal diagnosis of iniencephaly associated with holoprosencephaly and cyclops. ( 23445151 )
2013
12
Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? ( 23011585 )
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
The blemmy: A medieval grotesque inspired by iniencephaly? ( 20503340 )
2010
17
Iniencephaly with mediastinal bronchogenic cyst: A case report. ( 22439066 )
2010
18
Antenatal Sonography and MRI of Iniencephaly apertus and clausus. ( 20197655 )
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
Major diagnostic and pathological features of iniencephaly based on twenty-four cases. ( 18504373 )
2008
22
Occipital encephalocele associated with iniencephaly mimicking an unilateral nuchal tumor on prenatal ultrasound. ( 18564506 )
2008
23
Iniencephaly: association with unusual congenital malformations. ( 18810349 )
2008
24
Iniencephaly and long-term survival: a rare case report. ( 17364209 )
2007
25
Iniencephaly: Prenatal diagnosis with postmortem findings. ( 17688632 )
2007
26
Antenatal diagnosis of iniencephaly: sonographic and MR correlation: a case report. ( 17673848 )
2007
27
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
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
Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings. ( 11494291 )
2001
36
Lymphangiectasis with iniencephaly. ( 11844186 )
2001
37
Diagnosis of an unusual form of iniencephaly in the first trimester of pregnancy. ( 11844185 )
2001
38
CNS findings in iniencephaly: case report and literature review. ( 11280600 )
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: a report of 19 cases. ( 10216599 )
1998
44
Iniencephaly: neuroradiological and surgical features. Case report and review of the literature. ( 9688130 )
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
Iniencephaly: 3D-computed tomography imaging. ( 8309774 )
1993
48
Endovaginal sonographic diagnosis of iniencephaly apertus and craniorachischisis at 13 weeks, menstrual age. ( 8381132 )
1993
49
Iniencephaly. A case report. ( 1479575 )
1992
50
Brain stem and cervical cord dysraphic lesions in iniencephaly. ( 1409145 )
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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