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Microcephaly-cervical spine fusion anomalies syndrome

MedGen UID:
208663
•Concept ID:
C0796066
•
Disease or Syndrome
Synonyms: Microcephaly cervical spine fusion anomalies; MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES; Microcephaly, mild mental retardation, short stature, and skeletal anomalies
SNOMED CT: Microcephalus co-occurrent with cervical spine fusion anomaly (715462003); Microcephaly with cervical spine fusion anomaly (715462003)
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 recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009621
OMIM®: 251250
Orphanet: ORPHA2522

Definition

A very rare disorder, features include microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. [from SNOMEDCT_US]

Clinical features

From HPO
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
See: Feature record | Search on this feature
Spinal cord compression
MedGen UID:
11549
•Concept ID:
C0037926
•
Disease or Syndrome
External mechanical compression of the spinal cord.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
Spinal instability
MedGen UID:
96082
•Concept ID:
C0410648
•
Disease or Syndrome
See: Feature record | Search on this feature
Vertebral fusion
MedGen UID:
480139
•Concept ID:
C3278509
•
Anatomical Abnormality
A developmental defect leading to the union of two adjacent vertebrae.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrocephaly-cervical spine fusion anomalies syndrome
Follow this link to review classifications for Microcephaly-cervical spine fusion anomalies syndrome in Orphanet.

Professional guidelines

PubMed

Klippel-Feil Syndrome: Clinical Presentation and Management.
Jae-Min Park A, Nelson SE, Mesfin A
JBJS Rev 2022 Feb 15;10(2) doi: 10.2106/JBJS.RVW.21.00166. PMID: 35171878
Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.
Litrenta J, Bi AS, Dryer JW
J Am Acad Orthop Surg 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. PMID: 34288888
Early-onset scoliosis: current treatment.
Cunin V
Orthop Traumatol Surg Res 2015 Feb;101(1 Suppl):S109-18. Epub 2015 Jan 23 doi: 10.1016/j.otsr.2014.06.032. PMID: 25623270

Recent clinical studies

Etiology

Klippel-Feil Syndrome: Clinical Presentation and Management.
Jae-Min Park A, Nelson SE, Mesfin A
JBJS Rev 2022 Feb 15;10(2) doi: 10.2106/JBJS.RVW.21.00166. PMID: 35171878
Congenital Cervical Fusion as a Risk Factor for Development of Degenerative Cervical Myelopathy.
Nouri A, Martin AR, Lange SF, Kotter MRN, Mikulis DJ, Fehlings MG
World Neurosurg 2017 Apr;100:531-539. Epub 2017 Jan 24 doi: 10.1016/j.wneu.2017.01.048. PMID: 28130167
Aortic issues in scoliosis and scoliotic operations.
Yuan SM, Wang GR
Wien Klin Wochenschr 2016 Feb;128(3-4):131-6. Epub 2015 Sep 15 doi: 10.1007/s00508-015-0850-3. PMID: 26373749
Fusions at the craniovertebral junction.
Ahmed R, Traynelis VC, Menezes AH
Childs Nerv Syst 2008 Oct;24(10):1209-24. Epub 2008 Apr 4 doi: 10.1007/s00381-008-0607-7. PMID: 18389260
Klippel-Feil syndrome.
Smith BA, Griffin C
Ann Emerg Med 1992 Jul;21(7):876-9. doi: 10.1016/s0196-0644(05)81038-8. PMID: 1610048

Diagnosis

Klippel-Feil Syndrome: Clinical Presentation and Management.
Jae-Min Park A, Nelson SE, Mesfin A
JBJS Rev 2022 Feb 15;10(2) doi: 10.2106/JBJS.RVW.21.00166. PMID: 35171878
Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.
Litrenta J, Bi AS, Dryer JW
J Am Acad Orthop Surg 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. PMID: 34288888
Klippel-Feil syndrome: a review of the literature.
Frikha R
Clin Dysmorphol 2020 Jan;29(1):35-37. doi: 10.1097/MCD.0000000000000301. PMID: 31577545
Congenital Cervical Fusion as a Risk Factor for Development of Degenerative Cervical Myelopathy.
Nouri A, Martin AR, Lange SF, Kotter MRN, Mikulis DJ, Fehlings MG
World Neurosurg 2017 Apr;100:531-539. Epub 2017 Jan 24 doi: 10.1016/j.wneu.2017.01.048. PMID: 28130167
Congenital scoliosis.
Kose N, Campbell RM
Med Sci Monit 2004 May;10(5):RA104-10. Epub 2004 Apr 28 PMID: 15114284

Therapy

Operative Treatment of Bertolotti Syndrome: Resection Versus Fusion.
Mikula AL, Lakomkin N, Ransom RC, Flanigan PM, Waksdahl LA, Pennington Z, Sharma MS, Elder BD, Fogelson JL
World Neurosurg 2022 Sep;165:e311-e316. Epub 2022 Jun 16 doi: 10.1016/j.wneu.2022.06.042. PMID: 35717016
Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review.
Čota S, Žagar I, Delimar V, Pap M, Perić D, Perić P
Rheumatol Int 2019 Sep;39(9):1655-1660. Epub 2019 Jun 18 doi: 10.1007/s00296-019-04346-0. PMID: 31214770
Aortic issues in scoliosis and scoliotic operations.
Yuan SM, Wang GR
Wien Klin Wochenschr 2016 Feb;128(3-4):131-6. Epub 2015 Sep 15 doi: 10.1007/s00508-015-0850-3. PMID: 26373749
Early definitive spinal fusion in young children: what we have learned.
Karol LA
Clin Orthop Relat Res 2011 May;469(5):1323-9. doi: 10.1007/s11999-010-1622-z. PMID: 20957466Free PMC Article
Fusions at the craniovertebral junction.
Ahmed R, Traynelis VC, Menezes AH
Childs Nerv Syst 2008 Oct;24(10):1209-24. Epub 2008 Apr 4 doi: 10.1007/s00381-008-0607-7. PMID: 18389260

Prognosis

Spinal Fusion in Patients With Classic Amyoplasia and General Arthrogryposis.
Riepen D, Lachmann EE, Wahlig B, Thornberg DC, Rathjen KE
J Pediatr Orthop 2023 Oct 1;43(9):e751-e756. Epub 2023 Jul 27 doi: 10.1097/BPO.0000000000002483. PMID: 37503867
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B
Hum Mol Genet 2023 Sep 16;32(19):2913-2928. doi: 10.1093/hmg/ddad117. PMID: 37462524Free PMC Article
Klippel-Feil syndrome: a review of the literature.
Frikha R
Clin Dysmorphol 2020 Jan;29(1):35-37. doi: 10.1097/MCD.0000000000000301. PMID: 31577545
Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review.
Čota S, Žagar I, Delimar V, Pap M, Perić D, Perić P
Rheumatol Int 2019 Sep;39(9):1655-1660. Epub 2019 Jun 18 doi: 10.1007/s00296-019-04346-0. PMID: 31214770
Central nervous system and cervical spine abnormalities in Apert syndrome.
Breik O, Mahindu A, Moore MH, Molloy CJ, Santoreneos S, David DJ
Childs Nerv Syst 2016 May;32(5):833-8. Epub 2016 Feb 10 doi: 10.1007/s00381-016-3036-z. PMID: 26861132

Clinical prediction guides

COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B
Hum Mol Genet 2023 Sep 16;32(19):2913-2928. doi: 10.1093/hmg/ddad117. PMID: 37462524Free PMC Article
The craniovertebral junction, between osseous variants and abnormalities: insight from a paleo-osteological study.
Saccheri P, Travan L
Anat Sci Int 2022 Mar;97(2):197-212. Epub 2021 Nov 29 doi: 10.1007/s12565-021-00642-7. PMID: 34841475
Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.
Litrenta J, Bi AS, Dryer JW
J Am Acad Orthop Surg 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. PMID: 34288888
Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review.
Čota S, Žagar I, Delimar V, Pap M, Perić D, Perić P
Rheumatol Int 2019 Sep;39(9):1655-1660. Epub 2019 Jun 18 doi: 10.1007/s00296-019-04346-0. PMID: 31214770
Craniocervical fusions in children.
Menezes AH
J Neurosurg Pediatr 2012 Jun;9(6):573-85. doi: 10.3171/2012.2.PEDS11371. PMID: 22656246

Recent systematic reviews

Is detethering necessary before deformity correction in congenital scoliosis associated with tethered cord syndrome: a meta-analysis of current evidence.
Ahuja K, Ifthekar S, Mittal S, Yadav G, Sudhakar PV, Barik S, Kandwal P
Eur Spine J 2021 Mar;30(3):599-611. Epub 2020 Nov 17 doi: 10.1007/s00586-020-06662-7. PMID: 33201289
When Limb Surgery Has Become the Only Life-Saving Therapy in FOP: A Case Report and Systematic Review of the Literature.
Botman E, Treurniet S, Lubbers WD, Schwarte LA, Schober PR, Sabelis L, Peters EJG, van Schie A, de Vries R, Grunwald Z, Smilde BJ, Nieuwenhuijzen JA, Visser M, Micha D, Bravenboer N, Coen Netelenbos J, Teunissen BP, de Graaf P, Raijmakers PGHM, Smit JM, Eekhoff EMW
Front Endocrinol (Lausanne) 2020;11:570. Epub 2020 Aug 21 doi: 10.3389/fendo.2020.00570. PMID: 32973683Free PMC Article

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