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Spina bifida

MedGen UID:
38283
Concept ID:
C0080178
Congenital Abnormality
Synonyms: Bifida, Spina; Cleft Spine; Cleft Spines; Dysraphia, Spinal; Dysraphism, Spinal; Dysraphisms, Spinal; Open Spine; Open Spines; Schistorrhachis; Spina Bifida; Spina Bifidas; Spinal Dysraphia; Spinal Dysraphias; Spinal Dysraphism; Spinal Dysraphisms; Spine, Cleft; Spine, Open
SNOMED CT: Spina bifida (67531005); Posterior rachischisis (67531005); SB - Spina bifida (67531005)
 
HPO: HP:0002414
Monarch Initiative: MONDO:0008449
OMIM®: 182940

Definition

Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. [from HPO]

Conditions with this feature

Gorlin syndrome
MedGen UID:
2554
Concept ID:
C0004779
Neoplastic Process
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.
Hallermann-Streiff syndrome
MedGen UID:
5414
Concept ID:
C0018522
Disease or Syndrome
Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990).
Nail-patella syndrome
MedGen UID:
10257
Concept ID:
C0027341
Disease or Syndrome
Nail-patella syndrome (NPS) (previously referred to as Fong's disease), encompasses the classic clinical tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns. Nail changes are the most constant feature of NPS. Nails may be absent, hypoplastic, or dystrophic; ridged longitudinally or horizontally; pitted; discolored; separated into two halves by a longitudinal cleft or ridge of skin; and thin or (less often) thickened. The patellae may be small, irregularly shaped, or absent. Elbow abnormalities may include limitation of extension, pronation, and supination; cubitus valgus; and antecubital pterygia. Iliac horns are bilateral, conical, bony processes that project posteriorly and laterally from the central part of the iliac bones of the pelvis. Renal involvement, first manifest as proteinuria with or without hematuria, occurs in 30%-50% of affected individuals; end-stage renal disease occurs up to 15% of affected individuals. Primary open-angle glaucoma and ocular hypertension occur at increased frequency and at a younger age than in the general population.
Neurofibromatosis, type 1
MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.
Radial aplasia-thrombocytopenia syndrome
MedGen UID:
61235
Concept ID:
C0175703
Disease or Syndrome
Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.
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.
Femoral hypoplasia - unusual facies syndrome
MedGen UID:
120523
Concept ID:
C0265263
Disease or Syndrome
Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by Nowaczyk et al., 2010).
Chiari type II malformation
MedGen UID:
108222
Concept ID:
C0555206
Congenital Abnormality
Chiari malformation type II (CM2), also known as the Arnold-Chiari malformation, consists of elongation and descent of the inferior cerebellar vermis, cerebellar hemispheres, pons, medulla, and fourth ventricle through the foramen magnum into the spinal canal. CM2 is uniquely associated with myelomeningocele (open spina bifida; see 182940) and is found only in this population (Stevenson, 2004). It is believed to be a disorder of neuroectodermal origin (Schijman, 2004). For a general phenotypic description of the different forms of Chiari malformations, see Chiari malformation type I (CM1; 118420).
Ophthalmoplegia, external, and myopia
MedGen UID:
326916
Concept ID:
C1839577
Disease or Syndrome
Oto-palato-digital syndrome, type II
MedGen UID:
337064
Concept ID:
C1844696
Disease or Syndrome
The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.
Waardenburg syndrome type 1
MedGen UID:
376211
Concept ID:
C1847800
Disease or Syndrome
Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of affected individuals, is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural. Most commonly, hearing loss in WS1 is bilateral and profound (>100 dB). The majority of individuals with WS1 have either a white forelock or early graying of the scalp hair before age 30 years. The classic white forelock observed in approximately 45% of individuals is the most common hair pigmentation anomaly seen in WS1. Affected individuals may have complete heterochromia iridium, partial/segmental heterochromia, or hypoplastic or brilliant blue irides. Congenital leukoderma is frequently seen on the face, trunk, or limbs.
Tel Hashomer camptodactyly syndrome
MedGen UID:
347860
Concept ID:
C1859356
Disease or Syndrome
A rare syndrome with characteristics of camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth. Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development. The molecular basis of the syndrome has not yet been elucidated.
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.
Chromosome 17p13.1 deletion syndrome
MedGen UID:
462419
Concept ID:
C3151069
Disease or Syndrome
Cutis laxa, autosomal recessive, type 1B
MedGen UID:
482428
Concept ID:
C3280798
Disease or Syndrome
EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems.
Neu-Laxova syndrome 2
MedGen UID:
863456
Concept ID:
C4015019
Disease or Syndrome
Neu-Laxova syndrome-2 (NLS2) is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected individuals have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014). For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (256520).
VATER association
MedGen UID:
902479
Concept ID:
C4225671
Disease or Syndrome
VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).
Neu-Laxova syndrome 1
MedGen UID:
1633287
Concept ID:
C4551478
Disease or Syndrome
Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.
Rubinstein-Taybi syndrome due to CREBBP mutations
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
MedGen UID:
1790413
Concept ID:
C5551361
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC) is characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and dysmorphic facial features. Brain imaging tends to show thin corpus callosum and decreased white matter volume. Additional features such as seizures, cardiac defects, and behavioral abnormalities may also occur. The phenotype is variable (summary by Bina et al., 2020).
Anencephaly 1
MedGen UID:
1794138
Concept ID:
C5561928
Congenital Abnormality
Anencephaly is characterized by the absence of cranial vault and brain tissues in the fetus. It is considered an extreme form of neural tube defect (182940) (summary by Singh et al., 2017). Genetic Heterogeneity of Anencephaly See also anencephaly-2 (ANPH2; 619452), caused by mutation in the NUAK12 gene (608131) on chromosome 1q32.
Intellectual developmental disorder, autosomal dominant 72
MedGen UID:
1841248
Concept ID:
C5830612
Mental or Behavioral Dysfunction
Autosomal dominant intellectual developmental disorder-72 (MRD72) is characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features (Cuinat et al., 2022).

Professional guidelines

PubMed

Meller C, Covini D, Aiello H, Izbizky G, Portillo Medina S, Otaño L
Arch Argent Pediatr 2021 Jun;119(3):e215-e228. doi: 10.5546/aap.2021.eng.e215. PMID: 34033426
Panicker JN
Semin Neurol 2020 Oct;40(5):569-579. Epub 2020 Oct 16 doi: 10.1055/s-0040-1713876. PMID: 33065745Free PMC Article
Phillips LA, Burton JM, Evans SH
Curr Probl Pediatr Adolesc Health Care 2017 Jul;47(7):173-177. Epub 2017 Jul 19 doi: 10.1016/j.cppeds.2017.06.007. PMID: 28734746

Recent clinical studies

Etiology

Castillo J, Castillo H, Thibadeau JK, Brei T
J Pediatr Rehabil Med 2021;14(4):569-570. doi: 10.3233/PRM-219015. PMID: 34864704
Miller JL, Groves ML, Baschat AA
Minerva Ginecol 2019 Apr;71(2):163-170. Epub 2018 Nov 27 doi: 10.23736/S0026-4784.18.04355-1. PMID: 30486637
Blumenfeld YJ, Belfort MA
Curr Opin Obstet Gynecol 2018 Apr;30(2):123-129. doi: 10.1097/GCO.0000000000000443. PMID: 29489502
Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS
Lancet 2004 Nov 20-26;364(9448):1885-95. doi: 10.1016/S0140-6736(04)17445-X. PMID: 15555669
Deshmukh SS
Indian J Pediatr 1997 Nov-Dec;64(6 Suppl):57-61. PMID: 11129882

Diagnosis

Morota N, Sakamoto H
Childs Nerv Syst 2023 Oct;39(10):2847-2864. Epub 2023 Jul 8 doi: 10.1007/s00381-023-06024-w. PMID: 37421423
Gotha L, Pruthi V, Abbasi N, Kulkarni AV, Church P, Drake JM, Carvalho JCA, Diambomba Y, Thakur V, Ryan G, Van Mieghem T
Prenat Diagn 2020 Dec;40(12):1499-1507. Epub 2020 Aug 22 doi: 10.1002/pd.5802. PMID: 32692418
Milani HJF, Barreto EQS, Chau H, To NH, Moron AF, Meagher S, Da Silva Costa F, Araujo Júnior E
J Matern Fetal Neonatal Med 2020 Mar;33(5):736-742. Epub 2018 Sep 6 doi: 10.1080/14767058.2018.1500543. PMID: 30001658
Micu R, Chicea AL, Bratu DG, Nita P, Nemeti G, Chicea R
Med Ultrason 2018 May 2;20(2):221-227. doi: 10.11152/mu-1325. PMID: 29730690
Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS
Lancet 2004 Nov 20-26;364(9448):1885-95. doi: 10.1016/S0140-6736(04)17445-X. PMID: 15555669

Therapy

Sanz Cortes M, Chmait RH, Lapa DA, Belfort MA, Carreras E, Miller JL, Brawura Biskupski Samaha R, Sepulveda Gonzalez G, Gielchinsky Y, Yamamoto M, Persico N, Santorum M, Otaño L, Nicolaou E, Yinon Y, Faig-Leite F, Brandt R, Whitehead W, Maiz N, Baschat A, Kosinski P, Nieto-Sanjuanero A, Chu J, Kershenovich A, Nicolaides KH
Am J Obstet Gynecol 2021 Dec;225(6):678.e1-678.e11. Epub 2021 Jun 3 doi: 10.1016/j.ajog.2021.05.044. PMID: 34089698
Campbell F, Biggs K, Aldiss SK, O'Neill PM, Clowes M, McDonagh J, While A, Gibson F
Cochrane Database Syst Rev 2016 Apr 29;4(4):CD009794. doi: 10.1002/14651858.CD009794.pub2. PMID: 27128768Free PMC Article
Atta CA, Fiest KM, Frolkis AD, Jette N, Pringsheim T, St Germaine-Smith C, Rajapakse T, Kaplan GG, Metcalfe A
Am J Public Health 2016 Jan;106(1):e24-34. Epub 2015 Nov 12 doi: 10.2105/AJPH.2015.302902. PMID: 26562127Free PMC Article
Adzick NS, Thom EA, Spong CY, Brock JW 3rd, Burrows PK, Johnson MP, Howell LJ, Farrell JA, Dabrowiak ME, Sutton LN, Gupta N, Tulipan NB, D'Alton ME, Farmer DL; MOMS Investigators
N Engl J Med 2011 Mar 17;364(11):993-1004. Epub 2011 Feb 9 doi: 10.1056/NEJMoa1014379. PMID: 21306277Free PMC Article
Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS
Lancet 2004 Nov 20-26;364(9448):1885-95. doi: 10.1016/S0140-6736(04)17445-X. PMID: 15555669

Prognosis

Ryznychuk MO, Kryvchanska MI, Lastivka IV, Bulyk RY
Wiad Lek 2018;71(2 pt 2):339-344. PMID: 29786583
Khairy S, Azzubi M
World Neurosurg 2017 May;101:811.e7-811.e8. Epub 2017 Feb 27 doi: 10.1016/j.wneu.2017.02.074. PMID: 28245993
Adzick NS, Thom EA, Spong CY, Brock JW 3rd, Burrows PK, Johnson MP, Howell LJ, Farrell JA, Dabrowiak ME, Sutton LN, Gupta N, Tulipan NB, D'Alton ME, Farmer DL; MOMS Investigators
N Engl J Med 2011 Mar 17;364(11):993-1004. Epub 2011 Feb 9 doi: 10.1056/NEJMoa1014379. PMID: 21306277Free PMC Article
Jaiswal AK, Mahapatra AK
J Clin Neurosci 2005 Apr;12(3):249-52. doi: 10.1016/j.jocn.2004.03.038. PMID: 15851075
Warshaw EM
Skinmed 2003 Nov-Dec;2(6):359-66. doi: 10.1111/j.1540-9740.2003.02177.x. PMID: 14673247

Clinical prediction guides

Bendt M, Forslund EB, Hagman G, Hultling C, Seiger Å, Franzén E
Gait Posture 2022 Jul;96:343-350. Epub 2022 Jul 2 doi: 10.1016/j.gaitpost.2022.06.016. PMID: 35820238
Sanz Cortes M, Chmait RH, Lapa DA, Belfort MA, Carreras E, Miller JL, Brawura Biskupski Samaha R, Sepulveda Gonzalez G, Gielchinsky Y, Yamamoto M, Persico N, Santorum M, Otaño L, Nicolaou E, Yinon Y, Faig-Leite F, Brandt R, Whitehead W, Maiz N, Baschat A, Kosinski P, Nieto-Sanjuanero A, Chu J, Kershenovich A, Nicolaides KH
Am J Obstet Gynecol 2021 Dec;225(6):678.e1-678.e11. Epub 2021 Jun 3 doi: 10.1016/j.ajog.2021.05.044. PMID: 34089698
Showen AE, Copp HL, Allen IE, Hampson LA
Dev Med Child Neurol 2021 Oct;63(10):1229-1235. Epub 2021 May 14 doi: 10.1111/dmcn.14919. PMID: 33987844Free PMC Article
Schneider J, Mohr N, Aliatakis N, Seidel U, John R, Promnitz G, Spors B, Kaindl AM
Dev Med Child Neurol 2021 Mar;63(3):295-302. Epub 2020 Nov 2 doi: 10.1111/dmcn.14717. PMID: 33140418
Ambartsumyan L, Rodriguez L
J Pediatr Rehabil Med 2018;11(4):293-301. doi: 10.3233/PRM-170533. PMID: 30507592

Recent systematic reviews

León-Salas B, González-Hernández Y, Infante-Ventura D, de Armas-Castellano A, García-García J, García-Hernández M, Carmona-Rodríguez M, Olazarán J, Dobato JL, Rodríguez-Rodríguez L, Trujillo-Martín MM
Eur J Neurol 2023 Jan;30(1):241-254. Epub 2022 Nov 14 doi: 10.1111/ene.15599. PMID: 36256522
Sawin KJ, Margolis RHF, Ridosh MM, Bellin MH, Woodward J, Brei TJ, Logan LR
Disabil Health J 2021 Jan;14(1):100940. Epub 2020 May 16 doi: 10.1016/j.dhjo.2020.100940. PMID: 32980287
Campbell F, Biggs K, Aldiss SK, O'Neill PM, Clowes M, McDonagh J, While A, Gibson F
Cochrane Database Syst Rev 2016 Apr 29;4(4):CD009794. doi: 10.1002/14651858.CD009794.pub2. PMID: 27128768Free PMC Article
Atta CA, Fiest KM, Frolkis AD, Jette N, Pringsheim T, St Germaine-Smith C, Rajapakse T, Kaplan GG, Metcalfe A
Am J Public Health 2016 Jan;106(1):e24-34. Epub 2015 Nov 12 doi: 10.2105/AJPH.2015.302902. PMID: 26562127Free PMC Article
Oliveira A, Jácome C, Marques A
Res Dev Disabil 2014 May;35(5):1119-36. Epub 2014 Mar 4 doi: 10.1016/j.ridd.2014.02.002. PMID: 24612860

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