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Arnold-Chiari malformation

MedGen UID:
2065
Concept ID:
C0003803
Congenital Abnormality
Synonyms: Arnola-Chiari malformation; Chiari malformation
SNOMED CT: Arnold-Chiari syndrome (253184003); Chiari malformation (253184003)
 
OMIM®: 207950
HPO: HP:0002308

Definition

Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too small, which pushes the brain tissue down. There are several types of CM. One type often happens in children who have neural tube defects. Some types cause no symptoms and don't need treatment. If you have symptoms, they may include. -Neck pain. -Balance problems. -Numbness or other abnormal feelings in the arms or legs. -Dizziness. -Vision problems. -Difficulty swallowing. -Poor hand coordination. Doctors diagnose CM using imaging tests. Medicines may ease some symptoms, such as pain. Surgery is the only treatment available to correct or stop the progression of nerve damage. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

Conditions with this feature

Focal dermal hypoplasia
MedGen UID:
42055
Concept ID:
C0016395
Disease or Syndrome
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo-/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment.
Aicardi syndrome
MedGen UID:
61236
Concept ID:
C0175713
Disease or Syndrome
Aicardi syndrome was classically characterized by a triad of features: agenesis of the corpus callosum, distinctive chorioretinal lacunae, and infantile spasms. However, it is now well recognized that several other important findings are typically present in girls with Aicardi syndrome. Neurologic examination can reveal microcephaly, axial hypotonia, and appendicular hypertonia with spasticity. Moderate to severe global developmental delay and intellectual disability are expected. Many girls with Aicardi syndrome develop seizures prior to age three months, and most before age one year. Ongoing medically refractory epilepsy with a variety of seizure types develops over time. Costovertebral defects are common and can lead to marked scoliosis in up to one third of affected individuals. Other features include characteristic facial features, gastrointestinal difficulties, small hands, vascular malformations and pigmentary lesions of the skin, increased incidence of tumors, lower growth rate after ages seven to nine years, and precocious or delayed puberty. Survival is highly variable, with the mean age of death about 8.3 years and the median age of death about 18.5 years.
Goldenhar syndrome
MedGen UID:
75554
Concept ID:
C0265240
Disease or Syndrome
Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Characteristic findings include facial asymmetry resulting from maxillary and/or mandibular hypoplasia; preauricular or facial tags; ear malformations that can include microtia (hypoplasia of the external ear), anotia (absence of the external ear), or aural atresia (absence of the external ear canal); and hearing loss. Severity can range from subtle facial asymmetry with a small skin tag in front of an otherwise normal-appearing ear to bilateral involvement (typically asymmetric), microtia/anotia with atresia of the ear canals, microphthalmia, and respiratory compromise from severe mandibular hypoplasia. Other craniofacial malformations including cleft lip and/or palate can be seen. Non-craniofacial malformations, especially vertebral, renal, cardiac, and limb, can be seen.
Chiari malformation type II
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).
Lathosterolosis
MedGen UID:
375885
Concept ID:
C1846421
Disease or Syndrome
An extremely rare inborn error of sterol biosynthesis with manifestations of facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Only 4 cases have been reported in the literature to date. Lathosterolosis is due to mutations in the SC5D gene (11q23.3). A mutation in this gene leads to a deficiency in 3-beta-hydroxysteroid-delta-5-desaturase, which is necessary in the conversion of lathosterol into 7-dehydrocholesterol. This prevents the synthesis of cholesterol, which among other functions acts as a structural lipid, a precursor for bile acids and steroid hormones, and is necessary for the maturation of hedgehog morphogens during embryonic development. Inherited in an autosomal recessive manner.
Omphalocele exstrophy imperforate anus
MedGen UID:
338020
Concept ID:
C1850321
Disease or Syndrome
A rare combination of congenital abnormalities that includes omphalocele, cloacal exstrophy, imperforate anus, and spine abnormalities.
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
MedGen UID:
348008
Concept ID:
C1860042
Disease or Syndrome
Cytochrome P450 oxidoreductase (POR) deficiency is a disorder of steroidogenesis with a phenotypic spectrum ranging from cortisol deficiency at the milder end to classic Antley-Bixler syndrome (ABS) at the severe end. Cortisol deficiency can range from clinically insignificant to life threatening; manifestations can include ambiguous genitalia in both males and females; primary amenorrhea and enlarged cystic ovaries in females; poor masculinization during puberty in males; and maternal virilization during pregnancy with an affected fetus. Manifestations of ABS include craniosynostosis; hydrocephalus; distinctive facies; choanal stenosis or atresia; low-set dysplastic ears with stenotic external auditory canals; skeletal anomalies (radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, clubfeet); renal anomalies (ectopic kidneys, duplication of the kidneys, renal hypoplasia, horseshoe kidney, hydronephrosis); and reduction of cognitive function and developmental delay. In moderate POR deficiency, craniofacial and skeletal anomalies are less severe than in ABS.
Pfeiffer syndrome
MedGen UID:
350148
Concept ID:
C1863356
The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
Loeys-Dietz syndrome 2
MedGen UID:
390653
Concept ID:
C2674876
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections) and skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus). Approximately 75% of affected individuals have LDS type I with craniofacial manifestations (widely spaced eyes, bifid uvula/cleft palate, craniosynostosis); approximately 25% have LDS type II with systemic manifestations of LDSI but minimal or absent craniofacial features. LDSI and LDSII form a clinical continuum. The natural history of LDS is characterized by aggressive arterial aneurysms (mean age at death 26.1 years) and a high incidence of pregnancy-related complications, including death and uterine rupture.
Loeys-Dietz syndrome 1
MedGen UID:
395828
Concept ID:
C2697933
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections) and skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus). Approximately 75% of affected individuals have LDS type I with craniofacial manifestations (widely spaced eyes, bifid uvula/cleft palate, craniosynostosis); approximately 25% have LDS type II with systemic manifestations of LDSI but minimal or absent craniofacial features. LDSI and LDSII form a clinical continuum. The natural history of LDS is characterized by aggressive arterial aneurysms (mean age at death 26.1 years) and a high incidence of pregnancy-related complications, including death and uterine rupture.
Meckel syndrome type 1
MedGen UID:
811346
Concept ID:
C3714506
Disease or Syndrome
Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q13; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12.2; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24.31; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11.2; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q31; and MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13.

Recent clinical studies

Etiology

Tieppo Francio V
BMJ Case Rep 2014 Nov 9;2014 doi: 10.1136/bcr-2014-207319. PMID: 25385566Free PMC Article
Waqar M, Vohra AH
BMJ Case Rep 2013 Oct 29;2013 doi: 10.1136/bcr-2013-201708. PMID: 24169873Free PMC Article
Bakim B, Goksan Yavuz B, Yilmaz A, Karamustafalioglu O, Akbiyik M, Yayla S, Yuce I, Alpak G, Tankaya O
Int J Psychiatry Clin Pract 2013 Oct;17(4):259-63. Epub 2013 Mar 26 doi: 10.3109/13651501.2013.778295. PMID: 23437799
Del Casale A, Serata D, Rapinesi C, Simonetti A, Tamorri SM, Comparelli A, De Carolis A, Savoja V, Kotzalidis GD, Sani G, Tatarelli R, Girardi P
Gen Hosp Psychiatry 2012 Nov-Dec;34(6):702.e5-7. Epub 2012 Jan 27 doi: 10.1016/j.genhosppsych.2011.12.008. PMID: 22285366
Tran K, Hukins CA
Sleep Breath 2011 Sep;15(3):611-3. Epub 2010 Sep 12 doi: 10.1007/s11325-010-0407-7. PMID: 20835768

Diagnosis

Jeong JH, Lee AL, Cho SY, Jin DK, Im SB
Medicine (Baltimore) 2016 May;95(18):e3155. doi: 10.1097/MD.0000000000003155. PMID: 27149441Free PMC Article
Shen J, O'Keefe K, Webb LB, DeGirolamo A
Am J Case Rep 2015 Feb 20;16:99-103. doi: 10.12659/AJCR.891079. PMID: 25697467Free PMC Article
Tieppo Francio V
BMJ Case Rep 2014 Nov 9;2014 doi: 10.1136/bcr-2014-207319. PMID: 25385566Free PMC Article
Peters T, Perrier R, Haber RM
Pediatr Dermatol 2014 Mar-Apr;31(2):220-4. Epub 2014 Jan 5 doi: 10.1111/pde.12267. PMID: 24387693
Bakim B, Goksan Yavuz B, Yilmaz A, Karamustafalioglu O, Akbiyik M, Yayla S, Yuce I, Alpak G, Tankaya O
Int J Psychiatry Clin Pract 2013 Oct;17(4):259-63. Epub 2013 Mar 26 doi: 10.3109/13651501.2013.778295. PMID: 23437799

Therapy

Verma S, Bhatia PK, Sharma V, Sethi P, Singh YR
J Coll Physicians Surg Pak 2016 Nov;26(11):931-933. doi: 2482. PMID: 27981932
Bay A, Aktekin E, Erkutlu I
Blood Coagul Fibrinolysis 2015 Dec;26(8):946-8. doi: 10.1097/MBC.0000000000000322. PMID: 26248161
Verma R, Praharaj HN
BMJ Case Rep 2012 Jul 9;2012 doi: 10.1136/bcr-03-2012-6138. PMID: 22778461Free PMC Article
Del Casale A, Serata D, Rapinesi C, Simonetti A, Tamorri SM, Comparelli A, De Carolis A, Savoja V, Kotzalidis GD, Sani G, Tatarelli R, Girardi P
Gen Hosp Psychiatry 2012 Nov-Dec;34(6):702.e5-7. Epub 2012 Jan 27 doi: 10.1016/j.genhosppsych.2011.12.008. PMID: 22285366
Felício AC, Godeiro-Junior Cde O, Borges V, Silva SM, Ferraz HB
Arq Neuropsiquiatr 2007 Sep;65(3B):855-7. PMID: 17952297

Prognosis

Tieppo Francio V
BMJ Case Rep 2014 Nov 9;2014 doi: 10.1136/bcr-2014-207319. PMID: 25385566Free PMC Article
Waqar M, Vohra AH
BMJ Case Rep 2013 Oct 29;2013 doi: 10.1136/bcr-2013-201708. PMID: 24169873Free PMC Article
Tran K, Hukins CA
Sleep Breath 2011 Sep;15(3):611-3. Epub 2010 Sep 12 doi: 10.1007/s11325-010-0407-7. PMID: 20835768
Tsara V, Serasli E, Kimiskidis V, Papagianopoulos S, Katsaridis V, Fylaktakis M, Christaki P, Kazis A
Clin Neurol Neurosurg 2005 Oct;107(6):521-4. doi: 10.1016/j.clineuro.2004.10.008. PMID: 16202827
Takigami I, Miyamoto K, Kodama H, Hosoe H, Tanimoto S, Shimizu K
Spinal Cord 2005 Apr;43(4):249-51. doi: 10.1038/sj.sc.3101675. PMID: 15520835

Clinical prediction guides

Tieppo Francio V
BMJ Case Rep 2014 Nov 9;2014 doi: 10.1136/bcr-2014-207319. PMID: 25385566Free PMC Article
Bakim B, Goksan Yavuz B, Yilmaz A, Karamustafalioglu O, Akbiyik M, Yayla S, Yuce I, Alpak G, Tankaya O
Int J Psychiatry Clin Pract 2013 Oct;17(4):259-63. Epub 2013 Mar 26 doi: 10.3109/13651501.2013.778295. PMID: 23437799
Songu M, Can N, Gelal F
Ear Nose Throat J 2013 Jan;92(1):E19-21. PMID: 23354897
Nacir B, Arslan Cebeci S, Cetinkaya E, Karagoz A, Erdem HR
Rheumatol Int 2010 May;30(7):979-83. Epub 2009 Jun 23 doi: 10.1007/s00296-009-1013-5. PMID: 19547980
Castejón OJ
Folia Neuropathol 2009;47(1):11-9. PMID: 19353430

Recent systematic reviews

Zhao JL, Li MH, Wang CL, Meng W
World Neurosurg 2016 Apr;88:7-14. Epub 2015 Dec 28 doi: 10.1016/j.wneu.2015.11.087. PMID: 26732952
Arnautovic A, Splavski B, Boop FA, Arnautovic KI
J Neurosurg Pediatr 2015 Feb;15(2):161-77. Epub 2014 Dec 5 doi: 10.3171/2014.10.PEDS14295. PMID: 25479580
Messing-Jünger M, Röhrig A
Childs Nerv Syst 2013 Sep;29(9):1553-62. Epub 2013 Sep 7 doi: 10.1007/s00381-013-2134-4. PMID: 24013325
Sakushima K, Hida K, Yabe I, Tsuboi S, Uehara R, Sasaki H
J Neurosurg Spine 2013 Jun;18(6):588-92. Epub 2013 Apr 19 doi: 10.3171/2013.3.SPINE12837. PMID: 23600586
Hwang SW, Samdani AF, Jea A, Raval A, Gaughan JP, Betz RR, Cahill PJ
Childs Nerv Syst 2012 Aug;28(8):1213-9. Epub 2012 Apr 18 doi: 10.1007/s00381-012-1739-3. PMID: 22526438

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