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Familial syringomyelia

MedGen UID:
1842994
•Concept ID:
C5680970
•
Congenital Abnormality
Synonyms: familial syringomyelia; hereditary syringomyelia
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).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018257
Orphanet: ORPHA370034

Definition

An instance of syringomyelia that is caused by an inherited modification of the individual's genome. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial syringomyelia

Professional guidelines

PubMed

Novel MNX1 mutations and genotype-phenotype analysis of patients with Currarino syndrome.
Han L, Zhang Z, Wang H, Song H, Gao Q, Yan Y, Tao R, Xiao P, Li L, Jiang Q, Li Q
Orphanet J Rare Dis 2020 Jun 22;15(1):155. doi: 10.1186/s13023-020-01442-4. PMID: 32571425Free PMC Article
Neurosurgical Management of Lateral Meningocele Syndrome: A Clinical Update for the Pediatric Neurosurgeon.
Cuoco JA, Klein BJ, Busch CM, Gosnell HL, Kar A, Marvin EA, Apfel LS
Pediatr Neurosurg 2020;55(1):2-11. Epub 2019 Dec 13 doi: 10.1159/000504060. PMID: 31838470
Functional assessment and treatment of perseverative speech about restricted topics in an adolescent with Asperger syndrome.
Fisher WW, Rodriguez NM, Owen TM
J Appl Behav Anal 2013 Spring;46(1):307-11. Epub 2013 Feb 20 doi: 10.1002/jaba.19. PMID: 24114104

Recent clinical studies

Diagnosis

Familial syringomyelia: case report and review of the literature.
Colombo A, Cislaghi MG
Ital J Neurol Sci 1993 Dec;14(9):637-9. doi: 10.1007/BF02339249. PMID: 8125767
Familial syringomyelia.
Busis NA, Hochberg FH
J Neurol Neurosurg Psychiatry 1985 Sep;48(9):936-8. doi: 10.1136/jnnp.48.9.936. PMID: 4045487Free PMC Article
Familial communicating syringomyelia.
Giménez-Roldán S, Benito C, Mateo D
J Neurol Sci 1978 Mar;36(1):135-46. doi: 10.1016/0022-510x(78)90167-3. PMID: 650252
Familial syringomyelia: a report of four cases.
Caraceni T, Giovannini P
Arch Psychiatr Nervenkr (1970) 1977 Dec 28;224(4):331-40. doi: 10.1007/BF00341615. PMID: 305236

Clinical prediction guides

A genetic hypothesis for Chiari I malformation with or without syringomyelia.
Speer MC, George TM, Enterline DS, Franklin A, Wolpert CM, Milhorat TH
Neurosurg Focus 2000 Mar 15;8(3):E12. doi: 10.3171/foc.2000.8.3.12. PMID: 16676924

Supplemental Content

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