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Isolated Klippel-Feil syndrome

MedGen UID:
980916
•Concept ID:
CN296789
•
Disease or Syndrome
Synonyms: Congenital cervical vertebral fusion; Congenital fused cervical segments; Klippel-Feil malformation; Klippel-Feil sequence
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.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Orphanet: ORPHA2345

Definition

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae. [from ORDO]

Recent clinical studies

Etiology

Klippel-Feil syndrome: Should additional examination be conducted?
Ekin EE, Altunrende ME
Eur Spine J 2024 Jun;33(6):2347-2353. Epub 2024 Apr 27 doi: 10.1007/s00586-024-08281-y. PMID: 38676727
Congenital anomalies of the cervical spine.
Klimo P Jr, Rao G, Brockmeyer D
Neurosurg Clin N Am 2007 Jul;18(3):463-78. doi: 10.1016/j.nec.2007.04.005. PMID: 17678749
Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III.
Thomsen MN, Schneider U, Weber M, Johannisson R, Niethard FU
Spine (Phila Pa 1976) 1997 Feb 15;22(4):396-401. doi: 10.1097/00007632-199702150-00008. PMID: 9055366
Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.
Bavinck JN, Weaver DD
Am J Med Genet 1986 Apr;23(4):903-18. doi: 10.1002/ajmg.1320230405. PMID: 3008556
Syndromes with cephaloceles.
Cohen MM Jr, Lemire RJ
Teratology 1982 Apr;25(2):161-72. doi: 10.1002/tera.1420250206. PMID: 7101196

Diagnosis

Klippel-Feil syndrome: Should additional examination be conducted?
Ekin EE, Altunrende ME
Eur Spine J 2024 Jun;33(6):2347-2353. Epub 2024 Apr 27 doi: 10.1007/s00586-024-08281-y. PMID: 38676727
Congenital anomalies of the cervical spine.
Klimo P Jr, Rao G, Brockmeyer D
Neurosurg Clin N Am 2007 Jul;18(3):463-78. doi: 10.1016/j.nec.2007.04.005. PMID: 17678749
Stapedial ankylosis in the Mayer-Rokitansky-Küster-Hauser syndrome.
Cremers CW, Strübbe EH, Willemsen WN
Arch Otolaryngol Head Neck Surg 1995 Jul;121(7):800-3. doi: 10.1001/archotol.1995.01890070086018. PMID: 7598861
Klippel-Feil syndrome with congenital conductive deafness: report of a case and review of literature.
Dubey SP, Ghosh LM
Int J Pediatr Otorhinolaryngol 1993 Jan;25(1-3):201-8. doi: 10.1016/0165-5876(93)90054-7. PMID: 8436466
Klippel-Feil syndrome: patterns of bony fusion and wasp-waist sign.
Nguyen VD, Tyrrel R
Skeletal Radiol 1993 Oct;22(7):519-23. doi: 10.1007/BF00209100. PMID: 8272889

Prognosis

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemień GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G
Hum Mol Genet 2020 Dec 4;29(22):3662-3678. doi: 10.1093/hmg/ddaa258. PMID: 33276377Free PMC Article
Severe cervical scoliosis in the fetus.
Prada CE, Sellars EA, Spaeth CG, Kline-Fath BM, Crombleholme TM, Hopkin RJ
Prenat Diagn 2011 Dec;31(12):1198-202. Epub 2011 Oct 26 doi: 10.1002/pd.2898. PMID: 22031186
Dandy-Walker syndrome: experience at the Hospital for Sick Children, Toronto.
Asai A, Hoffman HJ, Hendrick EB, Humphreys RP
Pediatr Neurosci 1989;15(2):66-73. doi: 10.1159/000120445. PMID: 2635298
Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.
Bavinck JN, Weaver DD
Am J Med Genet 1986 Apr;23(4):903-18. doi: 10.1002/ajmg.1320230405. PMID: 3008556

Clinical prediction guides

Klippel-Feil syndrome: Should additional examination be conducted?
Ekin EE, Altunrende ME
Eur Spine J 2024 Jun;33(6):2347-2353. Epub 2024 Apr 27 doi: 10.1007/s00586-024-08281-y. PMID: 38676727
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemień GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G
Hum Mol Genet 2020 Dec 4;29(22):3662-3678. doi: 10.1093/hmg/ddaa258. PMID: 33276377Free PMC Article
Developmental anomalies of the scapula-the "omo"st forgotten bone.
Williams MS
Am J Med Genet A 2003 Aug 1;120A(4):583-7. doi: 10.1002/ajmg.a.20091. PMID: 12884444
Klippel-Feil syndrome: patterns of bony fusion and wasp-waist sign.
Nguyen VD, Tyrrel R
Skeletal Radiol 1993 Oct;22(7):519-23. doi: 10.1007/BF00209100. PMID: 8272889
Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.
Bavinck JN, Weaver DD
Am J Med Genet 1986 Apr;23(4):903-18. doi: 10.1002/ajmg.1320230405. PMID: 3008556

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