MCID: ACL002
MIFTS: 24

Acalvaria

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

Aliases & Classifications for Acalvaria

MalaCards integrated aliases for Acalvaria:

Name: Acalvaria 52 58 71
Primary Acalvaria 52 58

Characteristics:

Orphanet epidemiological data:

58
acalvaria
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: stillbirth;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C535570 D009436
ICD10 via Orphanet 33 Q00.0
UMLS via Orphanet 72 C0702169 C2930936
Orphanet 58 ORPHA945
UMLS 71 C2930936

Summaries for Acalvaria

NIH Rare Diseases : 52 Primary acalvaria is an extremely rare malformation characterized by the absence of the flat skull bones of the brain, dura mater , and scalp muscles. The skull base and facial features are fully formed and usually appear normal. The cause of acalvaria is still unknown. Acalvaria can be distinguished from anencephaly , the most common differential diagnosis , by the presence of a layer of skin overlying the brain matter and normal cerebral hemispheres. This malformation is most often lethal at birth due to other associated anomalies or to trauma during delivery, but a few surviving infants have been reported. Prenatal diagnosis via transvaginal ultrasound and/or magnetic resonance imaging is critical for better pregnancy management. The initial treatment is conservative, mainly aimed at supportive care and management of any associated anomalies, if present. Infants with acalvaria are managed conservatively in the newborn period because spontaneous bone growth has been seen in some newborns with other skull abnormalities, such as aplasia cutis congenita . Skull reconstruction by bone grafting and cranioplasty at school age has been discussed in the literature.

MalaCards based summary : Acalvaria, also known as primary acalvaria, is related to hydrocephalus and holoprosencephaly. Affiliated tissues include bone, brain and skin, and related phenotypes are aplasia/hypoplasia of the cerebellum and abnormality of neuronal migration

Wikipedia : 74 Acalvaria is a rare malformation consisting of absence of the calvarial bones, dura mater and associated... more...

Related Diseases for Acalvaria

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus 10.4
2 holoprosencephaly 10.3
3 encephalocele 10.3
4 hypertelorism 10.1
5 anencephaly 10.1
6 constricting bands, congenital 10.1
7 fryns microphthalmia syndrome 10.1
8 yemenite deaf-blind hypopigmentation syndrome 10.1
9 craniosynostosis 10.1
10 exencephaly 10.1
11 frontal encephalocele 10.1
12 occipital encephalocele 10.1
13 semilobar holoprosencephaly 10.1

Graphical network of the top 20 diseases related to Acalvaria:



Diseases related to Acalvaria

Symptoms & Phenotypes for Acalvaria

Human phenotypes related to Acalvaria:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia of the cerebellum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007360
2 abnormality of neuronal migration 58 31 frequent (33%) Frequent (79-30%) HP:0002269
3 postaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001162
4 calvarial skull defect 31 frequent (33%) HP:0001362
5 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
6 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
7 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
8 holoprosencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001360
9 talipes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001883
10 spina bifida 58 31 occasional (7.5%) Occasional (29-5%) HP:0002414
11 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
12 abnormal lung lobation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002101
13 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
14 malformation of the heart and great vessels 58 Occasional (29-5%)
15 abnormality of the skull 58 Very frequent (99-80%)
16 skull defect 58 Frequent (79-30%)

Drugs & Therapeutics for Acalvaria

Search Clinical Trials , NIH Clinical Center for Acalvaria

Genetic Tests for Acalvaria

Anatomical Context for Acalvaria

MalaCards organs/tissues related to Acalvaria:

40
Bone, Brain, Skin, Cerebellum, Heart, Lung

Publications for Acalvaria

Articles related to Acalvaria:

(show all 19)
# Title Authors PMID Year
1
Acalvaria - report of a case and discussion of the literature. 61
28468512 2019
2
Acalvaria with external hydrocephalus: an uncommon case. 61
30073388 2018
3
Acalvaria. 61
24926969 2014
4
Acalvaria: A rare congenital malformation. 61
23560003 2012
5
Prenatal diagnosis of a fetus with anencephaly and thumb agenesis. 61
22348786 2012
6
Taking angiotensin-converting enzyme inhibitors during pregnancy: is it safe? 61
22267620 2012
7
Cranial vault defects: the description of three cases that illustrate a spectrum of anomalies. 61
18442303 2009
8
Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray. 61
19650417 2009
9
Localized acalvaria with craniosynostosis. 61
18541961 2008
10
Prenatal and postnatal findings of acrania. 61
15185096 2005
11
Acalvaria. 61
15235172 2004
12
A case study of amnion rupture sequence with acalvaria, blindness, and clefting: clinical and psychological profiles. 61
15167227 2004
13
Antenatal imaging of a near-term fetus with primary acalvaria. 61
14528398 2003
14
Primary acalvaria in a term newborn. 61
12378204 2002
15
Fetal acalvaria with amniotic band syndrome. 61
10634833 2000
16
Acalvaria and hydrocephalus: a case report and discussion of the literature. 61
10547112 1999
17
Acalvaria and occipital scalp defects. 61
8209904 1994
18
Acalvaria: a unique congenital anomaly. 61
8362912 1993
19
Acalvaria, holoprosencephaly, and facial dysmorphism syndrome. 61
3491120 1986

Variations for Acalvaria

Expression for Acalvaria

Search GEO for disease gene expression data for Acalvaria.

Pathways for Acalvaria

GO Terms for Acalvaria

Sources for Acalvaria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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