Acrocallosal Syndrome

Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.

Also Known As:

Networked: 69 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Retrognathism
2.	Hydrocephalus (Hydrocephaly)
3.	Polydactyly (Polydactylism)
4.	Mental Retardation (Idiocy)
5.	Hypothermia

Experts

1.	Tambasco, Nicola: 2 articles (07/2014 - 07/2005)
2.	Lyonnet, Stanislas: 2 articles (07/2013 - 04/2007)
3.	Amiel, Jeanne: 2 articles (07/2013 - 04/2007)
4.	Biesecker, Leslie G: 2 articles (06/2013 - 01/2008)
5.	Sztriha, L: 2 articles (12/2003 - 04/2000)
6.	Li, Na: 1 article (05/2015)
7.	Yin, Shaowei: 1 article (05/2015)
8.	Zhang, Zhitao: 1 article (05/2015)
9.	Liu, Caixia: 1 article (05/2015)
10.	Belcastro, Vincenzo: 1 article (07/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Acrocallosal Syndrome:

1.	Absence of septum pellucidumIBA 08/01/1948 - "Radiological studies in rare but typical cerebral malformations; encephalographic findings in cerebral hemiagenesis, absence of corpus callosum and absence of septum pellucidum." 11/01/1985 - "[Heterotopia of the cerebral gray matter, absence of septum pellucidum, and partial absence of corpus callosum]." 02/01/2004 - "We reviewed 31 patients (10 females, 21 males) with midline intracranial defects (holoprosencephaly, absence of septum pellucidum, absence of corpus callosum, optic nerve hypoplasia) and correlated the morphology of the hypothalamus with body mass index (BMI), as BMI SDS. "
2.	EctrodactylyIBA 03/01/2013 - "Five cases were excluded from the study as associated abnormalities were detected on expert ultrasound: corpus callosum agenesis (n = 1), retrognathism (n = 3), and ectrodactyly (n = 1). "
3.	Greig cephalopolysyndactyly syndromeIBA 05/01/1997 - "It is possible that both the acrocallosal syndrome and the Greig syndrome are variant expressions of the same autosomal dominant condition. " 09/01/1992 - "The acrocallosal syndrome and Greig syndrome are not allelic disorders." 07/01/1990 - "Could acrocallosal syndrome and Greig syndrome affect the same developmental gene?" 03/01/1989 - "The main differences between the acrocallosal syndrome and the Greig syndrome are outlined with particular emphasis on digital anomalies. " 01/01/1985 - "Patients with Greig cephalopolysyndactyly syndrome have a normal development, children with the acrocallosal syndrome are retarded."
4.	Shapiro syndromeIBA 01/01/2011 - "Episodic hyperhydrosis with corpus callosum agenesis: a rare case of Shapiro syndrome." 12/01/2008 - "We present a patient diagnosed with Shapiro syndrome without corpus callosum agenesis. " 08/28/2012 - "Hypothermia and corpus callosum agenesis in Shapiro syndrome: too cold, even for a Viking." 05/01/2012 - "A case of periodic fever with corpus callosum agenesis: reverse Shapiro's syndrome." 07/01/2014 - "Shapiro Syndrome (SS) is a rare condition of spontaneous periodic hypothermia, corpus callosum agenesis (ACC) and hyperhidrosis which can occur at any age. "
5.	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 09/01/2013 - "Seventy-nine cases had no L1CAM mutations; these were subdivided into four groups: (1) hydrocephalus sometimes associated with corpus callosum agenesis (44 %); (2) atresia/forking of the aqueduct of Sylvius/rhombencephalosynapsis spectrum (27 %); (3) syndromic hydrocephalus (9 %), and (4) phenocopies with no mutations in the L1CAM gene (20 %) and in whom family history strongly suggested an autosomal recessive mode of transmission. " 06/15/1999 - "In humans, mutations in the L1 cell adhesion molecule are associated with a neurological syndrome termed CRASH, which includes corpus callosum agenesis, mental retardation, adducted thumbs, spasticity, and hydrocephalus. " 05/01/2008 - "It is extremely rare that Hirschsprung's disease (HSCR) merges with a disorder showing abnormality of the L1CAM genes such as acrocallosal syndrome (ACS) or X-linked hydrocephalus (XLH). " 04/01/2000 - "Corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene. "
6.	Mowat-Wilson syndromeIBA 12/01/2003 - "Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome)." 09/05/2011 - "Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability syndrome characterised by unique facial features and congenital anomalies such as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and urinary tract anomalies. " 07/01/2013 - "Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR). "
7.	X-linked HydrocephalusIBA 05/01/2008 - "It is extremely rare that Hirschsprung's disease (HSCR) merges with a disorder showing abnormality of the L1CAM genes such as acrocallosal syndrome (ACS) or X-linked hydrocephalus (XLH). " 02/16/1998 - "Mutations in the L1 gene are associated with four related neurological disorders, X-linked hydrocephalus, spastic paraplegia (SPG1), MASA syndrome, and X-linked corpus callosum agenesis. " 01/01/1995 - "We review here the evidence that several X-linked mental retardation syndromes including X-linked hydrocephalus (HSAS), MASA syndrome, X-linked complicated spastic paraparesis (SP1) and X-linked corpus callosum agenesis (ACC) are all due to mutations in the L1 gene. "
8.	ColpocephalyIBA 06/01/2013 - "Brain magnetic resonance imaging demonstrated corpus callosum agenesis with colpocephaly. " 01/01/2004 - "The neuroimagings of all eight patients showed colpocephaly, which is most likely caused by corpus callosum agenesis. " 09/01/1992 - "Ultrasonograms and magnetic resonance imaging of his brain demonstrated absence of corpus callosum, colpocephaly, hypoplastic brainstem, hypoplasia of the inferior vermis and of the cerebellar hemispheres. "
9.	Carbon MonoxideIBA 05/01/2015 - "One infant had corpus callosum agenesis, but its co-twin was normal. " 06/01/2012 - "We report the first case of CPAM type I, co-existing with tracheo-esophageal fistula and corpus callosum agenesis."
10.	Brachydactyly type A3IBA 01/01/2001 - "In addition, absence of corpus callosum, conductive hearing loss, choroidal and retinal coloboma,cranio-facial defects as well as brachydactyly,clinodactyly, camptodactyly and other skeletal anomalies were reported. " 03/01/2008 - "This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization ( Ds )-like human malformations, isolated hemihyperplasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, DiGeorge syndrome/velocardiofacial syndrome, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and obesity. "