MCID: BSL042
MIFTS: 21

Basilar Impression, Primary

Categories: Bone diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Basilar Impression, Primary

MalaCards integrated aliases for Basilar Impression, Primary:

Name: Basilar Impression, Primary 56 52 71
Bull-Nixon Syndrome 52 58
Primary Basilar Invagination 58
Primary Basilar Impression 52

Characteristics:

Orphanet epidemiological data:

58
primary basilar invagination
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

56
Miscellaneous:
variable expressivity
incomplete penetrance
often associated with syringomyelia
often associated with chiari type i malformation (cm1, )
often associated with klippel-feil anomaly

Inheritance:
autosomal dominant


HPO:

31
basilar impression, primary:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 109500
ICD10 via Orphanet 33 Q75.8
UMLS via Orphanet 72 C1862299
Orphanet 58 ORPHA2285
MedGen 41 C1862299
UMLS 71 C1862299

Summaries for Basilar Impression, Primary

OMIM : 56 Primary basilar impression of the skull is a developmental defect of the cranium in which there is invagination of the foramen magnum upward into the posterior cranial fossa. Basilar impression is often associated with other malformations of the notochord and craniovertebral junction, such as occipitalization of the atlas, Klippel-Feil anomaly (see 118100), Chiari type I malformation (118420), and syringomyelia (186700) (Paradis and Sax, 1972; Bhangoo and Crockard, 1999). Secondary basilar impression occurs as a result of generalized skeletal diseases, including hyperparathyroidism (see 145000), Paget disease (see 167250), and osteogenesis imperfecta (see, e.g., 166200). Platybasia refers to a skull base with an abnormally obtuse angle between the planes of the clivus and the anterior fossa. Platybasia may occur in basilar impression, but it is not of medical significance on its own (Bhangoo and Crockard, 1999). Historically, basilar impression was defined radiologically by numerous parameters, including the lines defined by Chamberlain (1939), McGregor (1948), and Fischgold and Metzger (1952), and the angle defined by Bull et al. (1955). (109500)

MalaCards based summary : Basilar Impression, Primary, also known as bull-nixon syndrome, is related to syringomyelia, noncommunicating isolated and syringomyelia. Affiliated tissues include bone and eye, and related phenotypes are short neck and abnormal vertebral morphology

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2285 Definition Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction. Visit the Orphanet disease page for more resources.

Related Diseases for Basilar Impression, Primary

Diseases related to Basilar Impression, Primary via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 syringomyelia, noncommunicating isolated 10.0
2 syringomyelia 10.0

Symptoms & Phenotypes for Basilar Impression, Primary

Human phenotypes related to Basilar Impression, Primary:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 abnormal vertebral morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003468
3 platybasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002691
4 basilar impression 58 31 hallmark (90%) Very frequent (99-80%) HP:0005758
5 abnormality of eye movement 58 31 frequent (33%) Frequent (79-30%) HP:0000496
6 abnormality of the voice 58 31 frequent (33%) Frequent (79-30%) HP:0001608
7 abnormality of the pharynx 58 31 frequent (33%) Frequent (79-30%) HP:0000600
8 kyphoscoliosis 31 HP:0002751
9 limb muscle weakness 31 HP:0003690
10 abnormality of the cervical spine 58 Very frequent (99-80%)
11 syringomyelia 31 HP:0003396
12 horner syndrome 31 HP:0002277
13 craniofacial asymmetry 31 HP:0004484
14 abnormal cervical myelogram 31 HP:0005788

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck
hypoplasia of cervical paravertebral muscles

Muscle Soft Tissue:
hypoplasia of cervical paravertebral muscles

Skeletal Skull:
platybasia
invagination of the foramen magnum upward into the posterior cranial fossa
translocation of the upper cervical vertebrae into the cranial depression
occipitalization of the atlas
base of the skull is flattened on the cervical spine

Neurologic Central Nervous System:
neurologic symptoms, if present, usually result from associated syringomyelia

Clinical features from OMIM:

109500

Drugs & Therapeutics for Basilar Impression, Primary

Search Clinical Trials , NIH Clinical Center for Basilar Impression, Primary

Genetic Tests for Basilar Impression, Primary

Anatomical Context for Basilar Impression, Primary

MalaCards organs/tissues related to Basilar Impression, Primary:

40
Bone, Eye

Publications for Basilar Impression, Primary

Articles related to Basilar Impression, Primary:

(show all 11)
# Title Authors PMID Year
1
Transmaxillary anterior decompressions in patients with severe basilar impression. 56
10078134 1999
2
Familial basilar impression. 56
4673454 1972
3
[Primary basilar impression in 2 families. Clinical, radiologic and genetic study]. 56
4976731 1968
4
Familial aqueductal stenosis and basilar impression. 56
5300716 1968
5
The radiological criteria and familial occurrence of primary basilar impression. 56
13239910 1955
6
[Radio-tomography of the impression fractures of the cranial basis]. 56
14958326 1952
7
Basilar Impression (Platybasia): A Bizarre Developmental Anomaly of the Occipital Bone and Upper Cervical Spine with Striking and Misleading Neurologic Manifestations. 56
21433841 1939
8
Craniovertebral junction abnormalities with hindbrain herniation and syringomyelia: regression of syringomyelia after removal of ventral craniovertebral junction compression. 61
22098202 2012
9
Treatment of primary basilar invagination by cervical traction and posterior instrumented reduction together with occipitocervical fusion. 61
21270707 2011
10
Endoscopically assisted transoral-transpharyngeal approach to the craniovertebral junction. 61
12234431 2002
11
Transoral-transpharyngeal approach to the anterior craniocervical junction. Ten-year experience with 72 patients. 61
3193195 1988

Variations for Basilar Impression, Primary

Expression for Basilar Impression, Primary

Search GEO for disease gene expression data for Basilar Impression, Primary.

Pathways for Basilar Impression, Primary

GO Terms for Basilar Impression, Primary

Sources for Basilar Impression, Primary

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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