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: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Waardenburg Syndrome (Klein Syndrome)
2.	Short Rib-Polydactyly Syndrome
3.	Obesity
4.	Hirschsprung Disease (Hirschsprung's Disease)
5.	DiGeorge Syndrome (Syndrome, DiGeorge)

Experts

1.	Gaesser, Jenna: 1 article (01/2019)
2.	Panigrahy, Ashok: 1 article (01/2019)
3.	Soundara Rajan, Deepa: 1 article (01/2019)
4.	Subramanian, Subramanian: 1 article (01/2019)
5.	Wen-Ya Lo, Cecilia: 1 article (01/2019)
6.	Alazami, Anas M: 1 article (01/2015)
7.	Albadr, Fahad: 1 article (01/2015)
8.	Alkuraya, Fowzan S: 1 article (01/2015)
9.	Anazi, Shams: 1 article (01/2015)
10.	Barakeh, Duna: 1 article (01/2015)

Drugs and Biologics

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

1.	KinesinsIBA 01/01/2019 - "We describe association of olfactory bulb and olfactory tract abnormalities in a child with acrocallosal syndrome caused by kinesin family membrane 7 (KIF7) mutation in sonic hedgehog pathway. " 02/01/2012 - "Kif7, a member of the kinesin 4 superfamily, is implicated in a variety of diseases including Joubert, hydrolethalus and acrocallosal syndromes. " 01/01/2015 - "Mutations in KIF7, the gene that encodes a component of the kinesin complex of anterograde intraflagellar transport in the cilia, have been reported to cause a range of phenotypes including hydrolethalis, acrocallosal syndrome and Joubert syndrome. "
2.	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 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). "
3.	Folic Acid AntagonistsIBA 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. "
4.	Anesthetics (Anesthetic Agents)IBA 10/01/2008 - "Anesthetic management of a child with acrocallosal syndrome."