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Hypoplastic cervical vertebrae

MedGen UID:
372079
Concept ID:
C1835570
Finding
Synonym: Cervical vertebrae hypoplasia
 
HPO: HP:0008434

Term Hierarchy

Conditions with this feature

Larsen syndrome
MedGen UID:
104500
Concept ID:
C0175778
Disease or Syndrome
The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic.
Diastrophic dysplasia
MedGen UID:
113103
Concept ID:
C0220726
Disease or Syndrome
Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion, the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence.
Camptomelic dysplasia
MedGen UID:
354620
Concept ID:
C1861922
Disease or Syndrome
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
MedGen UID:
897984
Concept ID:
C4225351
Disease or Syndrome
White-Sutton syndrome is a neurodevelopmental disorder characterized by a wide spectrum of cognitive dysfunction, developmental delays (particularly in speech and language acquisition), hypotonia, autism spectrum disorder, and other behavioral problems. Additional features commonly reported include seizures, refractive errors and strabismus, hearing loss, sleep disturbance (particularly sleep apnea), feeding and gastrointestinal problems, mild genital abnormalities in males, and urinary tract involvement in both males and females.
Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
MedGen UID:
1840948
Concept ID:
C5830312
Disease or Syndrome
Hypomyelinating leukodystrophy-26 with chondrodysplasia (HLD26) is characterized by severe psychomotor delay, predominantly involving motor and expressive language development, with cerebral and cerebellar atrophy and corpus callosum hypoplasia. In addition, patients show pre- and postnatal growth retardation, early-onset scoliosis, and dislocations of large joints (Guasto et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see HLD1 (312080).

Recent clinical studies

Etiology

Su C, Chen Z, Wu H, Jian F
Clin Neurol Neurosurg 2021 Jan;200:106309. Epub 2020 Oct 14 doi: 10.1016/j.clineuro.2020.106309. PMID: 33109467
Zibis A, Mitrousias V, Galanakis N, Chalampalaki N, Arvanitis D, Karantanas A
Eur Spine J 2018 Jun;27(6):1278-1285. Epub 2018 Feb 17 doi: 10.1007/s00586-018-5523-2. PMID: 29455293
Wang H, Wang Q, Ma L, Yang D, Ding W
World Neurosurg 2018 Jan;109:e417-e425. Epub 2017 Oct 7 doi: 10.1016/j.wneu.2017.09.198. PMID: 29017980
White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667
Mitchell J, McKay A
Anat Rec 1995 Jul;242(3):350-4. doi: 10.1002/ar.1092420308. PMID: 7573982

Diagnosis

Tellioglu AM, Durum Y, Gok M, Polat AG, Karaman CZ, Karakas S
Turk Neurosurg 2018;28(4):557-562. doi: 10.5137/1019-5149.JTN.18839-17.3. PMID: 30192360
White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667
Pierron S, Richelme C, Triolo V, Mas JC, Griffet J, Karmous-Benailly H, Quere M, Kaname T, Lambert JC, Giuliano F
Am J Med Genet A 2009 Aug;149A(8):1754-7. doi: 10.1002/ajmg.a.32910. PMID: 19606480
Kriss VM
Clin Pediatr (Phila) 1999 Aug;38(8):441-9. doi: 10.1177/000992289903800801. PMID: 10456238
Phan N, Marras C, Midha R, Rowed D
Neurosurgery 1998 Sep;43(3):629-33. doi: 10.1097/00006123-199809000-00140. PMID: 9733322

Therapy

Meynard A, Fréchède B, Pommier B, Mitton D, Barrey C
Neurosurgery 2023 Oct 1;93(4):910-917. Epub 2023 Apr 14 doi: 10.1227/neu.0000000000002492. PMID: 37057918
Zibis A, Mitrousias V, Galanakis N, Chalampalaki N, Arvanitis D, Karantanas A
Eur Spine J 2018 Jun;27(6):1278-1285. Epub 2018 Feb 17 doi: 10.1007/s00586-018-5523-2. PMID: 29455293
Kelly MP, Oshima Y, Yeom JS, Agarwal R, Bajwa NS, Riew KD
Spine (Phila Pa 1976) 2014 Oct 1;39(21):E1243-7. doi: 10.1097/BRS.0000000000000516. PMID: 25029221Free PMC Article
White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667
Dauphinee K
Emerg Med Clin North Am 1988 Nov;6(4):699-713. PMID: 3056706

Prognosis

Ushiku C, Soshi S, Inoue T, Shinohara A, Shinohara K, Ohkawa A, Marumo K
J Orthop Sci 2021 Mar;26(2):203-206. Epub 2020 Apr 30 doi: 10.1016/j.jos.2020.03.020. PMID: 32360078
Kim C, Sohn JH, Choi HC
BMC Neurol 2017 Aug 29;17(1):168. doi: 10.1186/s12883-017-0951-x. PMID: 28851303Free PMC Article
Morino T, Ogata T, Horiuchi H, Yamaoka S, Fukuda M, Miura H
Medicine (Baltimore) 2016 Aug;95(31):e4468. doi: 10.1097/MD.0000000000004468. PMID: 27495083Free PMC Article
Kośla KN, Majos M, Podgórski M, Polguj M, Topol M, Stefańczyk L, Majos A
Ann Anat 2014 Sep;196(5):360-4. Epub 2014 May 4 doi: 10.1016/j.aanat.2014.04.005. PMID: 24877685
White KK
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393. PMID: 22210667

Clinical prediction guides

Wang H, Wang Q, Ma L, Yang D, Ding W
World Neurosurg 2018 Jan;109:e417-e425. Epub 2017 Oct 7 doi: 10.1016/j.wneu.2017.09.198. PMID: 29017980
Kim C, Sohn JH, Choi HC
BMC Neurol 2017 Aug 29;17(1):168. doi: 10.1186/s12883-017-0951-x. PMID: 28851303Free PMC Article
Zibis AH, Mitrousias V, Baxevanidou K, Hantes M, Karachalios T, Arvanitis D
Eur Spine J 2016 Dec;25(12):4132-4139. Epub 2016 Aug 23 doi: 10.1007/s00586-016-4738-3. PMID: 27554348
Castori M, Servadei F, Laino L, Pascolini G, Fabbri R, Cifani AE, Sforzolini GS, Silvestri E, Grammatico P
Am J Med Genet A 2016 Mar;170(3):676-87. Epub 2015 Dec 21 doi: 10.1002/ajmg.a.37510. PMID: 26687031
Sano A, Hirano T, Watanabe K, Izumi T, Endo N, Ito T, Inagawa S
Spine (Phila Pa 1976) 2013 Jul 1;38(15):E960-7. doi: 10.1097/BRS.0b013e318296e542. PMID: 23609201

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