Overview
Congenital malformations of the cerebellum encompass a spectrum of rare disorders often associated with other systemic anomalies. These conditions can present with diverse neurological, craniofacial, and visceral defects, complicating diagnosis and management.Diagnosis
Management
Special Populations
Key Recommendations
References
1 Valdez CM, Altmayer SP, Barrow MA, Telles JA, Betat Rda S, Zen PR et al.. Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: novel evidence for a new condition?. American journal of medical genetics. Part A 2014. link 2 Vallejo OG, Benítez Sánchez Mdel C, Cánovas CS, Ontiveros JD, Ruiz Jiménez JI, Bermejo-Sánchez E et al.. Patient with disorganization syndrome: surgical procedures, pathology, and potential causes. Birth defects research. Part A, Clinical and molecular teratology 2013. link 3 Belengeanu V, Viskari H, Tallila J, Lahtela J, Farcas S, Andreescu N et al.. Lethal evolution of a newborn with consistent features of hydrolethalus syndrome--Romanian patient. Genetic counseling (Geneva, Switzerland) 2011. link 4 Karaman A, Kahveci H. A male newborn infant with fatco syndrome (fibular aplasia, tibial campomelia and oligodactyly): a case report. Genetic counseling (Geneva, Switzerland) 2010. link 5 Elalaoui SC, Ratbi I, Malih M, Bounasse M, Sefiani A. Severe form of hypoglossia-hypodactylia syndrome associated with complex cardiopathy: a case report. International journal of pediatric otorhinolaryngology 2010. link 6 Slavin TP, McCandless SE, Lazebnik N. McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder. Journal of clinical ultrasound : JCU 2010. link 7 Arora V, Kim UR, Khazei HM. Delleman Oorthuys syndrome: 'Oculocerebrocutaneous syndrome'. Indian journal of ophthalmology 2009. link 8 Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P. Yunis-Varon syndrome: further delineation of the phenotype. American journal of medical genetics. Part A 2008. link 9 Li L, Wei J. A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome). American journal of medical genetics. Part A 2006. link 10 Cakir M, Mungan I, Makuloglu M, Okten A. Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes. Indian journal of pediatrics 2006. link 11 Kulkarni ML, Vani HN, Nagendra K, Mahesh TK, Kumar A, Haneef S et al.. Yunis Varon syndrome. Indian journal of pediatrics 2006. link 12 Guion-Almeida ML, Richieri-Costa A. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?. American journal of medical genetics. Part A 2006. link 13 Uchida K, Konishi N, Inoue M, Otake K, Kusunoki M. A case of congenital jejunal atresia associated with bilateral athelia and choanal atresia: new syndrome spectrum. Clinical dysmorphology 2006. link 14 Manop J, Chamnanvanakij S, Wattanasarn C. Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): a case report in Thailand. Journal of the Medical Association of Thailand = Chotmaihet thangphaet 2004. link 15 Verbruggen SC, Wijnen RM, van den Berg P. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2004. link 16 Guion-Almeida ML, Machado-Paula LA, Richieri-Costa A. Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?. American journal of medical genetics. Part A 2004. link 17 Lee NC, Tiu CM, Soong WJ, Tsen CL, Hwang BT, Wei CF. Megacystis-microcolon-intestinal hypoperistalsis syndrome: report of one case. Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2003. link 18 Pieh C, Goebel HH, Engle EC, Gottlob I. Congenital fibrosis syndrome associated with central nervous system abnormalities. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2003. link 19 Gül D, Unay B, Ulucan H, Akin R. Unilateral split foot, torticollis, congenital heart defect and hydrocephaly: a new syndrome?. Clinical dysmorphology 2002. link 20 Menetrey C, Belin V, Odent S, de Lumley L, Gilbert B. Bilateral anophthalmia and oesophageal atresia in a newborn female: a new case of the anophthalmia-oesophageal-genital (AEG) syndrome. Clinical dysmorphology 2002. link 21 Kotiloğlu E, Kaya H, Güney I, Balci S. The Mckusick-Kaufman syndrome: report of a case with some associations. The Turkish journal of pediatrics 2002. link 22 Al-Gazali LI, Hamid Z, Hertecant J, Bakir M, Nath D, Kakadekar A. An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, ANOTHER syndrome and methimazole embryopathy. Clinical dysmorphology 2002. link 23 Yamanouchi H, Ota T, Imataka G, Hagiwara Y, Nakagawa E, Eguchi M. Congenital bilateral perisylvian syndrome associated with congenital constriction band syndrome. Journal of child neurology 2002. link 24 Guion-Almeida ML, Zechi-Ceide RM, Richieri-Costa A. Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome. Clinical dysmorphology 2000. link 25 Priolo M, Lerone M, Rosaia L, Calcagno EP, Sadeghi AK, Ghezzi F et al.. Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity?. Clinical dysmorphology 2000. link 26 Temple IK, Browne C, Hodgkins P. Anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome associated with breakpoints at 2q37.2 and 7q36.3. Clinical dysmorphology 1999. link 27 ten Donkelaar HJ, Wesseling P, Semmekrot BA, Liem KD, Tuerlings J, Cruysberg JR et al.. Severe, non X-linked congenital microcephaly with absence of the pyramidal tracts in two siblings. Acta neuropathologica 1999. link 28 Bonneau D, Roume J, Gonzalez M, Toutain A, Carles D, Maréchaud M et al.. Splenogonadal fusion limb defect syndrome: report of five new cases and review. American journal of medical genetics 1999. link1096-8628(19991008)86:4<347::aid-ajmg9>3.0.co;2-a) 29 Chung MY, Huang CB, Chuang JH, Ko SF, Chen L. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): a case report. Changgeng yi xue za zhi 1998. link 30 Pivnick EK, Kaufman RA, Velagaleti GV, Gunther WM, Abramovici D. Infant with midline thoracoabdominal schisis and limb defects. Teratology 1998. link1096-9926(199811)58:5<205::AID-TERA7>3.0.CO;2-X) 31 al-Gazali LI, Bakalinova D, Bakir M. Central nervous system malformations, dense bones and facial dysmorphism: a new autosomal recessive syndrome. Clinical dysmorphology 1998. link 32 Day-Salvatore D, McLean D. Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and "prehensile" halluces: a new syndrome?. American journal of medical genetics 1998. link 33 Shah D, Jones R, Porter H, Turnpenny P. Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome. American journal of medical genetics 1997. link1096-8628(19970516)70:2<171::aid-ajmg13>3.0.co;2-g) 34 Baraitser M, Stewart F, Winter RM, Hall CM, Herman S, Nevin NC. A syndrome of brachyphalangy, polydactyly and absent tibiae. Clinical dysmorphology 1997. link 35 Williams DK, McKeever P, Barrow M. Pterygia associated with otomandibular anomalies: a new autosomal recessive condition?. Clinical dysmorphology 1997. link 36 Samson G, Gardner JC. Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia: a new syndrome?. American journal of medical genetics 1996. link1096-8628(19960111)61:2<174::AID-AJMG15>3.0.CO;2-R) 37 Yapar EG, Ekici E, Aydogdu T, Senses E, Gökmen O. Diagnostic problems in a case with mucometrocolpos, polydactyly, congenital heart disease, and skeletal dysplasia. American journal of medical genetics 1996. link1096-8628(19961218)66:3<343::AID-AJMG19>3.0.CO;2-M) 38 Poddevin F, Delobel B, Courreges P, Bayart M. Antley-Bixler syndrome: case report and review of the literature. Genetic counseling (Geneva, Switzerland) 1995. link 39 Merlob P, Horev G, Kremer I, Nissenkorn I. Morning Glory fundus anomaly, coloboma of the optic nerve, porencephaly and hydronephrosis in a newborn infant: MCPH entity. Clinical dysmorphology 1995. link 40 Mollica F, Mazzone D, Cimino G, Opitz JM. Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome. American journal of medical genetics 1995. link 41 Hsu YR, Chuang JH, Huang CB, Changchien CC. The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome--a case report. Changgeng yi xue za zhi 1994. link 42 de Die-Smulders CE, Droog RP, van Dijk M, Fryns JP. Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome?. Journal of medical genetics 1993. link 43 Bonthron DT, Barlow KM, Burt AM, Barr DG. Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). Journal of medical genetics 1993. link 44 Cohen MM, Gorlin RJ, Clark R, Ewing SG, Camfield PR. Multiple circumferential skin folds and other anomalies: a problem in syndrome delineation. Clinical dysmorphology 1993. link 45 Urioste M, Rodríguez JI, Barcia JM, Martín M, Escribá R, Pardo M et al.. Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies. American journal of medical genetics 1993. link 46 Jones EM, Hersh JH, Yusk JW. Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly: a new syndrome?. Pediatric dermatology 1992. link 47 Burn J, McKeown C, Wagget J, Bray R, Goodship J. New dysmorphic syndrome with choanal atresia in siblings. Clinical dysmorphology 1992. link 48 Hall BD, Cadle RG, Golabi M, Morris CA, Cohen MM. Beare-Stevenson cutis gyrata syndrome. American journal of medical genetics 1992. link 49 Meinecke P, Peper M. Intrauterine growth retardation, mild frontonasal dysplasia, phocomelic upper limbs with absent thumbs and a variety of internal malformations including choanal atresia, congenital heart defects, polysplenia, absent gall bladder as well as genitourinary anomalies. A possibly "new" MCA syndrome?. Genetic counseling (Geneva, Switzerland) 1992. link 50 David A, Gordeeff A, Badoual J, Delaire J. Macrostomia, ectropion, atrophic skin, hypertrichosis: another observation. American journal of medical genetics 1991. link 51 Mena W, Krassikoff N, Philips JB. Fused eyelids, airway anomalies, ovarian cysts, and digital abnormalities in siblings: a new autosomal recessive syndrome or a variant of Fraser syndrome?. American journal of medical genetics 1991. link 52 Gershoni-Baruch R, Machoul I, Weiss Y, Blazer S. Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst. Journal of medical genetics 1990. link 53 al-Gazali LI, Mueller RF, Caine A, Antoniou A, McCartney A, Fitchett M et al.. Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. Journal of medical genetics 1990. link 54 Cunniff C, Jones KL, Saal HM, Stern HJ. Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics 1990. link 55 Hiraoka K, Haratake J, Horie A, Miyagawa T. Bilateral renal dysplasia, pancreatic fibrosis, intrahepatic biliary dysgenesis, and situs inversus totalis in a boy. Human pathology 1988. link80273-9) 56 Kaplan P, Plauchu H, Fitch N, Jéquier S. A new acro-cranio-facial dysostosis syndrome in sisters. American journal of medical genetics 1988. link 57 Pfeiffer RA, Stöss H, Voight HJ, Wündisch GF. Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: a possibly new lethal syndrome. American journal of medical genetics 1988. link 58 Jequier S, Kozlowski K. Unusual facies, arthrogryposis, advanced skeletal maturation and unique bone changes. A new congenital malformation syndrome. Pediatric radiology 1987. link 59 Rich MA, Heimler A, Waber L, Brock WA. Autosomal dominant transmission of ureteral triplication and bilateral amastia. The Journal of urology 1987. link43889-4) 60 Cantani A, Tacconi ML, Benincori N, Picarazzi A, Ceccoli D, Gaudino S. Rare syndromes. The Kaufman-McKusick syndrome. A review of the 44 cases reported in the literature. Annales de genetique 1987. link 61 Ohdo S, Madokoro H, Sonoda T, Takei M, Yasuda H, Mori N. Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation. Journal of medical genetics 1987. link 62 Ritscher D, Schinzel A, Boltshauser E, Briner J, Arbenz U, Sigg P. Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?. American journal of medical genetics 1987. link 63 DePalma L, Duray PH, Popeo VR. Femoral hypoplasia-unusual facies syndrome: autopsy findings in an unusual case. Pediatric pathology 1986. link 64 Toriello HV, Radecki LL, Sharda J, Looyenga D, Mann R. Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective. American journal of medical genetics. Supplement 1986. link 65 Pavone L, Gullotta F, Grasso S, Vannucchi C. Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant?. Neuropediatrics 1986. link 66 Ohtsuka H, Nakaoka H, Tamura O, Sanada Y. Bilateral cryptophthalmos with multiple associated congenital malformations. Annals of plastic surgery 1985. link 67 Ferguson JW, Hutchison HT, Rouse BM. Ocular, cerebral and cutaneous malformations: confirmation of an association. Clinical genetics 1984. link 68 Herva R, Seppänen U. Roentgenologic findings of the hydrolethalus syndrome. Pediatric radiology 1984. link 69 Bordarier C, Aicardi J, Goutieres F. Congenital hydrocephalus and eye abnormalities with severe developmental brain defects: Warburg's syndrome. Annals of neurology 1984. link 70 Rutledge JC, Friedman JM, Harrod MJ, Currarino G, Wright CG, Pinckney L et al.. A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. American journal of medical genetics 1984. link 71 Rivera H, Rodríguez RM, Plascencia ML, Martínez y Martínez R, Nazara Z, Cantu JM. Del (8) (q212q2200) de novo in a boy without Langer-Giedion syndrome. Journal de genetique humaine 1983. link 72 Knowles JC, Brandt IK, Bull MJ. Kaufman syndrome (hydrometrocolpos, polydactyly, and congenital heart disease) with pituitary dysplasia, choanal atresia, and vertebral anomalies. American journal of medical genetics 1981. link 73 Nevin NC, Kernohan DC, Ross AM. Ankyloglossum superius syndrome. Oral surgery, oral medicine, and oral pathology 1980. link90380-1) 74 Goddeeris P, Fryns JP, van den Berghe H. Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome. Journal de genetique humaine 1980. link 75 Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC et al.. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations. American journal of medical genetics 1980. link 76 Fryns JP, Moerman F, Goddeeris P, Bossuyt C, Van den Berghe H. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Human genetics 1979. link 77 Schinzel A. Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?. Helvetica paediatrica acta 1979. link 78 Fitch N, Srolovitz H, Robitaille Y, Guttman F. Absent left hemidiaphragm, arhinencephaly, and cardiac malformations. Journal of medical genetics 1978. link 79 Durkin-Stamm MV, Gilbert EF, Ganick DJ, Opitz JM. An unusual dysplasia-malformation-cancer syndrome in two patients. American journal of medical genetics 1978. link 80 Varnek L. Cryptophthalmos, dyscephaly, syndactyly and renal aplasia. Report of a case. Acta ophthalmologica 1978. link 81 Khan AA. Syndrome of ankylosis, facial anomalies and pulmonary hypoplasia. Medical journal of Zambia 1977. link 82 Eastman JR, Bixler D. Facio-cardio-renal syndrome: a newly delineated recessive disorder. Clinical genetics 1977. link 83 Kucheria K, Bhargava SK, Bamezai R, Bhutani P. A familial tetraphocomelia syndrome involving limb deformities, cleft lip, cleft palate, and associated anomalies--a new syndrome. Human genetics 1976. link 84 Bersu ET, Pettersen JC, Charboneau WJ, Opitz JM. Studies of malformation syndromes of man XXXXIA: anatomical studies in the Hanhart syndrome--a pathogenetic hypothesis. European journal of pediatrics 1976. link 85 Grosse FR, Pandel C, Wiedemann HR. The tetraphocomelia -- cleft palate syndrome: description of a new case. Humangenetik 1975. link