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Cerebral hypoplasia

MedGen UID:
343321
Concept ID:
C1855330
Finding
Synonym: Small cerebrum
 
HPO: HP:0006872

Definition

Underdevelopment of the cerebrum. [from HPO]

Conditions with this feature

Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency
MedGen UID:
90978
Concept ID:
C0342284
Disease or Syndrome
Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989.
Bifunctional peroxisomal enzyme deficiency
MedGen UID:
137982
Concept ID:
C0342870
Pathologic Function
D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (264470), caused by mutation in the ACOX1 gene (609751) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD; 300100), Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (NALD; see 601539) (Watkins et al., 1995). DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1; 233400). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.
Mosaic variegated aneuploidy syndrome 1
MedGen UID:
338026
Concept ID:
C1850343
Disease or Syndrome
Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. Most commonly, cells have an extra chromosome, which is called trisomy, or are missing a chromosome, which is known as monosomy. In MVA syndrome, some cells are aneuploid and others have the normal number of chromosomes, which is a phenomenon known as mosaicism. Typically, at least one-quarter of cells in affected individuals have an abnormal number of chromosomes. Because the additional or missing chromosomes vary among the abnormal cells, the aneuploidy is described as variegated.\n\nIn MVA syndrome, growth before birth is slow (intrauterine growth restriction). After birth, affected individuals continue to grow at a slow rate and are shorter than average. In addition, they typically have an unusually small head size (microcephaly). Another common feature of MVA syndrome is an increased risk of developing cancer in childhood. Cancers that occur most frequently in affected individuals include a cancer of muscle tissue called rhabdomyosarcoma, a form of kidney cancer known as Wilms tumor, and a cancer of the blood-forming tissue known as leukemia.\n\nThere are at least three types of MVA syndrome, each with a different genetic cause. Type 1 is the most common and displays the classic signs and symptoms described above. Type 2 appears to have slightly different signs and symptoms than type 1, although the small number of affected individuals makes it difficult to define its characteristic features. Individuals with MVA syndrome type 2 grow slowly before and after birth; however, their head size is typically normal. Some people with MVA syndrome type 2 have unusually short arms. Individuals with MVA syndrome type 2 do not seem to have an increased risk of cancer. Another form of MVA syndrome is characterized by a high risk of developing Wilms tumor. Individuals with this form may also have other signs and symptoms typical of MVA syndrome type 1.\n\nLess commonly, people with MVA syndrome have eye abnormalities or distinctive facial features, such as a broad nasal bridge and low-set ears. Some affected individuals have brain abnormalities, the most common of which is called Dandy-Walker malformation. Intellectual disability, seizures, and other health problems can also occur in people with MVA syndrome.
Osteodysplastic primordial dwarfism, type 1
MedGen UID:
347149
Concept ID:
C1859452
Congenital Abnormality
Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by Pierce and Morse, 2012).
Bird headed-dwarfism, Montreal type
MedGen UID:
347890
Concept ID:
C1859468
Disease or Syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature greying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.
Chromosome 4q21 deletion syndrome
MedGen UID:
462106
Concept ID:
C3150756
Disease or Syndrome
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.
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 11q12; 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; 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; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; 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 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
MedGen UID:
864138
Concept ID:
C4015701
Disease or Syndrome
A rare genetic developmental defect during embryogenesis malformation syndrome with characteristics of intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
MedGen UID:
1633724
Concept ID:
C4693816
Disease or Syndrome
El-Hattab-Alkuraya syndrome is characterized by microcephaly (often early onset and progressive); severe-to-profound developmental delay; refractory and early-onset seizures; spastic quadriplegia with axial hypotonia; and growth deficiency with poor weight gain and short stature. Characteristic findings on brain imaging include cerebral atrophy that is disproportionately most prominent in the frontal lobes; ex vacuo ventricular dilatation with notable posterior horn predominance; brain stem volume loss with flattening of the belly of the pons; and symmetric under-opercularization. Neurologic involvement is progressive, with significant morbidity and mortality.
Pontocerebellar hypoplasia, type 12
MedGen UID:
1648343
Concept ID:
C4748873
Disease or Syndrome

Professional guidelines

PubMed

Lees CC, Romero R, Stampalija T, Dall'Asta A, DeVore GA, Prefumo F, Frusca T, Visser GHA, Hobbins JC, Baschat AA, Bilardo CM, Galan HL, Campbell S, Maulik D, Figueras F, Lee W, Unterscheider J, Valensise H, Da Silva Costa F, Salomon LJ, Poon LC, Ferrazzi E, Mari G, Rizzo G, Kingdom JC, Kiserud T, Hecher K
Am J Obstet Gynecol 2022 Mar;226(3):366-378. Epub 2022 Jan 10 doi: 10.1016/j.ajog.2021.11.1357. PMID: 35026129Free PMC Article
Hiemke C, Bergemann N, Clement HW, Conca A, Deckert J, Domschke K, Eckermann G, Egberts K, Gerlach M, Greiner C, Gründer G, Haen E, Havemann-Reinecke U, Hefner G, Helmer R, Janssen G, Jaquenoud E, Laux G, Messer T, Mössner R, Müller MJ, Paulzen M, Pfuhlmann B, Riederer P, Saria A, Schoppek B, Schoretsanitis G, Schwarz M, Gracia MS, Stegmann B, Steimer W, Stingl JC, Uhr M, Ulrich S, Unterecker S, Waschgler R, Zernig G, Zurek G, Baumann P
Pharmacopsychiatry 2018 Jan;51(1-02):9-62. Epub 2017 Sep 14 doi: 10.1055/s-0043-116492. PMID: 28910830
Postuma RB, Berg D, Stern M, Poewe W, Olanow CW, Oertel W, Obeso J, Marek K, Litvan I, Lang AE, Halliday G, Goetz CG, Gasser T, Dubois B, Chan P, Bloem BR, Adler CH, Deuschl G
Mov Disord 2015 Oct;30(12):1591-601. doi: 10.1002/mds.26424. PMID: 26474316

Recent clinical studies

Etiology

Goto T, Kakita H, Takasu M, Takeshita S, Ueda H, Muto D, Kondo T, Kurahashi H, Okumura A, Yamada Y
J Neonatal Perinatal Med 2018;11(2):191-194. doi: 10.3233/NPM-181745. PMID: 29843264
Woodward ND, Heckers S
Schizophr Bull 2015 Nov;41(6):1349-59. Epub 2015 Apr 22 doi: 10.1093/schbul/sbv048. PMID: 25904725Free PMC Article
Rosa RF, Graziadio C, Lenhardt R, Alves RP, Paskulin GA, Zen PR
Arq Neuropsiquiatr 2010 Feb;68(1):98-102. doi: 10.1590/s0004-282x2010000100021. PMID: 20339662
Jernigan TL, Bellugi U, Sowell E, Doherty S, Hesselink JR
Arch Neurol 1993 Feb;50(2):186-91. doi: 10.1001/archneur.1993.00540020062019. PMID: 8431138

Diagnosis

Gholap RS, Bharucha-Goebel DX, Shats DA, Panchal BK, Chong J, Levin MR, Alexander JL
J Pediatr Ophthalmol Strabismus 2023 Jul-Aug;60(4):e35-e37. Epub 2023 Jul 1 doi: 10.3928/01913913-20230518-01. PMID: 37478202
Liu M, Liu X, Wu J, Sha J, Zhai J, Zhang B
Medicine (Baltimore) 2023 Feb 17;102(7):e33014. doi: 10.1097/MD.0000000000033014. PMID: 36800618Free PMC Article
Suleiman J, Allingham-Hawkins D, Hashem M, Shamseldin HE, Alkuraya FS, El-Hattab AW
Clin Genet 2018 Feb;93(2):360-364. Epub 2017 Sep 7 doi: 10.1111/cge.13054. PMID: 28503735
Rosa RF, Graziadio C, Lenhardt R, Alves RP, Paskulin GA, Zen PR
Arq Neuropsiquiatr 2010 Feb;68(1):98-102. doi: 10.1590/s0004-282x2010000100021. PMID: 20339662
Jernigan TL, Bellugi U, Sowell E, Doherty S, Hesselink JR
Arch Neurol 1993 Feb;50(2):186-91. doi: 10.1001/archneur.1993.00540020062019. PMID: 8431138

Therapy

Goto T, Kakita H, Takasu M, Takeshita S, Ueda H, Muto D, Kondo T, Kurahashi H, Okumura A, Yamada Y
J Neonatal Perinatal Med 2018;11(2):191-194. doi: 10.3233/NPM-181745. PMID: 29843264

Prognosis

Goto T, Kakita H, Takasu M, Takeshita S, Ueda H, Muto D, Kondo T, Kurahashi H, Okumura A, Yamada Y
J Neonatal Perinatal Med 2018;11(2):191-194. doi: 10.3233/NPM-181745. PMID: 29843264
Jiang C, Gai N, Zou Y, Zheng Y, Ma R, Wei X, Liang D, Wu L
Clin Chim Acta 2017 Jan;464:24-29. Epub 2016 Oct 28 doi: 10.1016/j.cca.2016.10.029. PMID: 27983999

Clinical prediction guides

Goto T, Kakita H, Takasu M, Takeshita S, Ueda H, Muto D, Kondo T, Kurahashi H, Okumura A, Yamada Y
J Neonatal Perinatal Med 2018;11(2):191-194. doi: 10.3233/NPM-181745. PMID: 29843264
Jiang C, Gai N, Zou Y, Zheng Y, Ma R, Wei X, Liang D, Wu L
Clin Chim Acta 2017 Jan;464:24-29. Epub 2016 Oct 28 doi: 10.1016/j.cca.2016.10.029. PMID: 27983999
Parisi L, Di Filippo T, Roccella M
Minerva Pediatr 2012 Feb;64(1):65-70. PMID: 22350047
Rosa RF, Graziadio C, Lenhardt R, Alves RP, Paskulin GA, Zen PR
Arq Neuropsiquiatr 2010 Feb;68(1):98-102. doi: 10.1590/s0004-282x2010000100021. PMID: 20339662
Jernigan TL, Bellugi U, Sowell E, Doherty S, Hesselink JR
Arch Neurol 1993 Feb;50(2):186-91. doi: 10.1001/archneur.1993.00540020062019. PMID: 8431138

Recent systematic reviews

Renkema RW, Caron CJJM, Wolvius EB, Dunaway DJ, Forrest CR, Padwa BL, Koudstaal MJ
Int J Oral Maxillofac Surg 2018 Jan;47(1):27-34. Epub 2017 Jul 20 doi: 10.1016/j.ijom.2017.06.009. PMID: 28736116

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