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Butterfly vertebrae

MedGen UID:
1744309
Concept ID:
C5438458
Congenital Abnormality
Synonyms: Butterfly vertebra; Sagittal clefting of vertebrae
SNOMED CT: Congenital sagittal cleft of vertebra (897560004); Butterfly vertebra (897560004); Anterior rachischisis (897560004)
 
HPO: HP:0003316

Definition

A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. [from HPO]

Term Hierarchy

Conditions with this feature

Aicardi syndrome
MedGen UID:
61236
Concept ID:
C0175713
Disease or Syndrome
Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affected girls have all three features of the classic triad and that other neurologic and systemic defects are common, including other brain malformations, optic nerve abnormalities, other seizure types, intellectual disability of varying severity, and scoliosis.
Lathosterolosis
MedGen UID:
375885
Concept ID:
C1846421
Disease or Syndrome
Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency (summary by Rossi et al., 2007).
Anophthalmia/microphthalmia-esophageal atresia syndrome
MedGen UID:
347232
Concept ID:
C1859773
Disease or Syndrome
The phenotypic spectrum of SOX2 disorder includes anophthalmia and/or microphthalmia, brain malformations, developmental delay / intellectual disability, esophageal atresia, hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes), pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements.
Acro-renal-mandibular syndrome
MedGen UID:
395425
Concept ID:
C1860166
Disease or Syndrome
A very rare multiple congenital anomalies syndrome with characteristics of limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia.
Spondylo-megaepiphyseal-metaphyseal dysplasia
MedGen UID:
412869
Concept ID:
C2750066
Disease or Syndrome
Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet (summary by Hellemans et al., 2009).
ALG12-congenital disorder of glycosylation
MedGen UID:
443954
Concept ID:
C2931001
Disease or Syndrome
Congenital disorders of glycosylation (CDG), previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are a group of hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. CDG1G is a multisystem disorder characterized by impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities, and immune deficiency. More variable features include skeletal dysplasia, cardiac anomalies, ocular abnormalities, and sensorineural hearing loss. Some patients die in the early neonatal or infantile period, whereas others are mildly affected and live to adulthood (summary by Tahata et al., 2019). For a general discussion of CDGs, see CDG1A (212065).
COG1 congenital disorder of glycosylation
MedGen UID:
443957
Concept ID:
C2931011
Disease or Syndrome
An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
Alveolar capillary dysplasia with pulmonary venous misalignment
MedGen UID:
755478
Concept ID:
C2960310
Congenital Abnormality
Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).
Spondylocostal dysostosis 5
MedGen UID:
901825
Concept ID:
C4083048
Disease or Syndrome
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.
Spondylocostal dysostosis 6, autosomal recessive
MedGen UID:
899713
Concept ID:
C4225279
Disease or Syndrome
Spondylocostal dysostosis (SCDO), defined radiographically as multiple segmentation defects of the vertebrae (M-SDV) in combination with abnormalities of the ribs, is characterized clinically by: a short trunk in proportion to height; short neck; non-progressive mild scoliosis in most affected individuals, and occasionally, more significant scoliosis. Respiratory function in neonates may be compromised by reduced size of the thorax. By age two years lung growth may improve sufficiently to support relatively normal growth and development; however, even then life-threatening complications can occur, especially pulmonary hypertension in children with severely restricted lung capacity from birth. Males with SCDO appear to be at increased risk for inguinal hernia.
Vertebral, cardiac, renal, and limb defects syndrome 1
MedGen UID:
1621146
Concept ID:
C4540004
Disease or Syndrome
Vertebral, cardiac, renal, and limb defects syndrome-1 (VCRL1) is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and mild distal limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of Vertebral, Cardiac, Renal, and Limb Defects Syndrome See also VCRL2 (617661), caused by mutation in the KYNU gene (605197) on chromosome 2q22, and VCRL3 (618845), caused by mutation in the NADSYN1 gene (608285) on chromosome 11q13.
Holoprosencephaly 13, X-linked
MedGen UID:
1714826
Concept ID:
C5393308
Disease or Syndrome
X-linked holoprosencephaly-13 (HPE13) is a neurologic disorder characterized by midline developmental defects that mainly affect the brain and craniofacial structure. The severity and manifestations are variable: some patients may have full alobar HPE with cyclopia, whereas others have semilobar HPE or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. Additional variable features include congenital heart defects and vertebral anomalies. Phenotypic variability may be related to the type of mutation, X-inactivation status, and possible incomplete penetrance. The STAG2 protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; HPE13 can thus be classified as a 'cohesinopathy' (summary by Kruszka et al., 2019). For a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Skeletal dysplasia, mild, with joint laxity and advanced bone age
MedGen UID:
1711043
Concept ID:
C5394341
Disease or Syndrome
CSGALNACT1 deficiency is characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly. Advanced carpotarsal bone age and monkey-wrench appearance of the femur observed in infancy may disappear with age (Mizumoto et al., 2020).
IFAP syndrome 1, with or without BRESHECK syndrome
MedGen UID:
1746744
Concept ID:
C5399971
Disease or Syndrome
The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012). Genetic Heterogeneity of IFAP Syndrome IFAP syndrome-2 (IFAP2; 619016) is caused by heterozygous mutation in the SREBF1 gene (184756) on chromosome 17p11.
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
MedGen UID:
1788942
Concept ID:
C5542341
Disease or Syndrome
X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems (summary by Tripolszki et al., 2021 and Beck et al., 2021). Beck et al. (2021) referred to the disorder as LINKED syndrome (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects).
Vertebral, cardiac, tracheoesophageal, renal, and limb defects
MedGen UID:
1788069
Concept ID:
C5543189
Disease or Syndrome
VCTERL syndrome is characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs. Some patients also exhibit craniofacial abnormalities. Incomplete penetrance and markedly variable disease expression have been observed, including intrafamilial variability (Martin et al., 2020).
VISS syndrome
MedGen UID:
1794165
Concept ID:
C5561955
Disease or Syndrome
VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).
Bent bone dysplasia syndrome 2
MedGen UID:
1824006
Concept ID:
C5774233
Disease or Syndrome
Bent bone dysplasia syndrome-2 (BBDS2) is characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, widely spaced nipples, and atrial septal defects. Abnormalities of muscle function are suggested by the presence of elbow fusions, ulnar flexion contractions at the wrist, and bilateral talipes equinovarus, as well as failure to mount a respiratory effort at birth (Barad et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of bent bone dysplasia syndrome, see BBDS1 (614592).

Professional guidelines

PubMed

Wei Q, Cai A, Wang X, Xie L, Wang B, Wang X
J Ultrasound Med 2013 Apr;32(4):595-607. doi: 10.7863/jum.2013.32.4.595. PMID: 23525384

Recent clinical studies

Etiology

Cheema MR, Stone LG, Sellar PW, Quinn S, Clark SC, Martin RJ, O'Brien JM, Warriner C, Browning AC
Doc Ophthalmol 2021 Oct;143(2):237-247. Epub 2021 Apr 20 doi: 10.1007/s10633-021-09836-w. PMID: 33877487
Takeda K, Kou I, Mizumoto S, Yamada S, Kawakami N, Nakajima M, Otomo N, Ogura Y, Miyake N, Matsumoto N, Kotani T, Sudo H, Yonezawa I, Uno K, Taneichi H, Watanabe K, Shigematsu H, Sugawara R, Taniguchi Y, Minami S, Nakamura M, Matsumoto M; Japan Early Onset Scoliosis Research Group, Watanabe K, Ikegawa S
Mol Genet Genomic Med 2018 Nov;6(6):966-974. Epub 2018 Sep 9 doi: 10.1002/mgg3.466. PMID: 30196550Free PMC Article
Liu Y, Wang H, Dong C, Feng JX, Huang ZH
Curr Med Sci 2018 Apr;38(2):304-309. Epub 2018 Apr 30 doi: 10.1007/s11596-018-1879-0. PMID: 30074189
Homans JF, Tromp IN, Colo D, Schlösser TPC, Kruyt MC, Deeney VFX, Crowley TB, McDonald-McGinn DM, Castelein RM
Am J Med Genet A 2018 Oct;176(10):2104-2120. Epub 2017 Nov 21 doi: 10.1002/ajmg.a.38545. PMID: 29159873
Can A, Dos Santos Rubio EJ, Jasperse B, Verdijk RM, Harhangi BS
World Neurosurg 2015 Aug;84(2):592.e9-14. Epub 2015 Mar 17 doi: 10.1016/j.wneu.2015.03.015. PMID: 25790871

Diagnosis

Cheema MR, Stone LG, Sellar PW, Quinn S, Clark SC, Martin RJ, O'Brien JM, Warriner C, Browning AC
Doc Ophthalmol 2021 Oct;143(2):237-247. Epub 2021 Apr 20 doi: 10.1007/s10633-021-09836-w. PMID: 33877487
Zeoli T, Iwanaga J, Dumont AS, Tubbs RS
Surg Radiol Anat 2021 Jan;43(1):127-130. Epub 2020 Jun 14 doi: 10.1007/s00276-020-02517-4. PMID: 32537674
Wu KY, Treece AL, Russo PA, Wen JW
Pediatr Dev Pathol 2018 Jan-Feb;21(1):79-83. Epub 2017 Jan 25 doi: 10.1177/1093526616686902. PMID: 29187043
Vajro P, Ferrante L, Paolella G
Clin Res Hepatol Gastroenterol 2012 Jun;36(3):275-7. Epub 2012 Apr 18 doi: 10.1016/j.clinre.2012.03.019. PMID: 22521120
Krantz ID, Piccoli DA, Spinner NB
J Med Genet 1997 Feb;34(2):152-7. doi: 10.1136/jmg.34.2.152. PMID: 9039994Free PMC Article

Therapy

Patinharayil G, Han CW, Marthya A, Meethall KC, Surendran S, Rudrappa GH
Spine (Phila Pa 1976) 2008 Nov 15;33(24):E926-8. doi: 10.1097/BRS.0b013e31818ad3e1. PMID: 19011533

Prognosis

Cheema MR, Stone LG, Sellar PW, Quinn S, Clark SC, Martin RJ, O'Brien JM, Warriner C, Browning AC
Doc Ophthalmol 2021 Oct;143(2):237-247. Epub 2021 Apr 20 doi: 10.1007/s10633-021-09836-w. PMID: 33877487
Can A, Dos Santos Rubio EJ, Jasperse B, Verdijk RM, Harhangi BS
World Neurosurg 2015 Aug;84(2):592.e9-14. Epub 2015 Mar 17 doi: 10.1016/j.wneu.2015.03.015. PMID: 25790871
Wei Q, Cai A, Wang X, Xie L, Wang B, Wang X
J Ultrasound Med 2013 Apr;32(4):595-607. doi: 10.7863/jum.2013.32.4.595. PMID: 23525384
Vajro P, Ferrante L, Paolella G
Clin Res Hepatol Gastroenterol 2012 Jun;36(3):275-7. Epub 2012 Apr 18 doi: 10.1016/j.clinre.2012.03.019. PMID: 22521120
Riely CA
Semin Liver Dis 1987 May;7(2):119-33. doi: 10.1055/s-2008-1040571. PMID: 3303344

Clinical prediction guides

McDermott H, Robinson HK, Caswell R, Gowda H, Offiah A, Naik S
Am J Med Genet A 2022 Jan;188(1):298-303. Epub 2021 Sep 24 doi: 10.1002/ajmg.a.62499. PMID: 34558814
Cheema MR, Stone LG, Sellar PW, Quinn S, Clark SC, Martin RJ, O'Brien JM, Warriner C, Browning AC
Doc Ophthalmol 2021 Oct;143(2):237-247. Epub 2021 Apr 20 doi: 10.1007/s10633-021-09836-w. PMID: 33877487
Anderson PJ, David DJ
Cleft Palate Craniofac J 2005 Sep;42(5):477-80. doi: 10.1597/04-142051r.1. PMID: 16149827
Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA
Hepatology 1999 Mar;29(3):822-9. doi: 10.1002/hep.510290331. PMID: 10051485
Berrocal T, Gamo E, Navalón J, Prieto C, Al-Assir I, Cortés P, Pastor I, Hierro L
Eur Radiol 1997;7(1):115-8. doi: 10.1007/s003300050122. PMID: 9000411

Recent systematic reviews

Homans JF, Tromp IN, Colo D, Schlösser TPC, Kruyt MC, Deeney VFX, Crowley TB, McDonald-McGinn DM, Castelein RM
Am J Med Genet A 2018 Oct;176(10):2104-2120. Epub 2017 Nov 21 doi: 10.1002/ajmg.a.38545. PMID: 29159873

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