Agenesis of Corpus Callosum (definition)

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Agenesis of Corpus Callosum

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Definition: Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.

Examples Acrocallosal Syndrome; Aicardi Syndrome; Holoprosencephaly

Other names Hypogenesis, Corpus Callosum; Hypogeneses, Corpus Callosum; Dysgenesis, Corpus Callosum; Dysgeneses, Corpus Callosum; Corpus Callosum Hypogeneses; Corpus Callosum Dysgeneses; Corpus Callosum Ageneses; Corpus Callosum Absences; Corpus Callosum Absence; Agenesis, Corpus Callosum; Ageneses, Corpus Callosum; Corpus Callosum Malformation; Corpus Callosum Hypogenesis; Corpus Callosum Dysgenesis; Corpus Callosum Agenesis; Absence of Corpus Callosum

Substance	Categories	Source
Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum	Hypothermia Agenesis of Corpus Callosum.
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features	Abnormalities, Multiple Macular Degeneration *Agenesis of Corpus Callosum.
Nakamura Osame syndrome	Intellectual Disability Spastic Paraplegia, Hereditary *Agenesis of Corpus Callosum.
CAMFAK syndrome	Cataract Demyelinating Diseases Microcephaly Agenesis of Corpus Callosum.
Calloso-genital dysplasia	Amenorrhea Coloboma *Agenesis of Corpus Callosum.
Opitz-Kaveggia syndrome	Anus, Imperforate Constipation Muscle Hypotonia/congenital Mental Retardation, X-Linked *Agenesis of Corpus Callosum.	Z Kinderheilkd. 117(1):1-18
Shapiro syndrome	Hyperhidrosis Hypothermia *Agenesis of Corpus Callosum.
Microcephaly, corpus callosum dysgenesis and cleft lip-palate	Cleft Lip Cleft Palate Exophthalmos Intellectual Disability Microcephaly Spasms, Infantile *Agenesis of Corpus Callosum.
Kozlowski Ouvrier syndrome	Intellectual Disability Agenesis of Corpus Callosum Bone and Bones/abnormalities.
Saal Bulas syndrome	Abnormalities, Multiple Hand Deformities, Congenital Heart Defects, Congenital Hernia, Diaphragmatic *Agenesis of Corpus Callosum.
Faye-Petersen Ward Carey syndrome	Hypertension Osteochondrodysplasias *Agenesis of Corpus Callosum.
Temtamy syndrome	Coloboma Craniofacial Abnormalities *Agenesis of Corpus Callosum.
Thrombocytopenia Robin sequence	Growth Disorders Pierre Robin Syndrome Thrombocytopenia/congenital Facies *Agenesis of Corpus Callosum.
Curatolo Cilio Pessagno syndrome	Growth Disorders Intellectual Disability Malformations of Cortical Development Agenesis of Corpus Callosum.
Corpus callosum agenesis neuronopathy	Peripheral Nervous System Diseases Agenesis of Corpus Callosum.
Donnai-Barrow syndrome	Hearing Loss, Sensorineural Myopia Proteinuria Agenesis of Corpus Callosum.
Median cleft lip, corpus callosum, lipoma, and skin polyps	Cleft Lip Coloboma Lipoma Nasal Polyps Skin Diseases Agenesis of Corpus Callosum.
Partial agenesis of corpus callosum	*Agenesis of Corpus Callosum.
Duker Weiss Siber syndrome	Intellectual Disability Microphthalmos Urogenital Abnormalities Agenesis of Corpus Callosum Brain/abnormalities.
Absent corpus callosum cataract immunodeficiency	Cataract Agenesis of Corpus Callosum.
Chudley-Mccullough syndrome	Hearing Loss, Sensorineural Arachnoid Cysts *Agenesis of Corpus Callosum.
Ben Ari Shuper Mimouni syndrome	Abnormalities, Multiple Agenesis of Corpus Callosum Head/abnormalities Ureter/abnormalities.
Lissencephaly and agenesis of corpus callosum	Classical Lissencephalies and Subcortical Band Heterotopias Agenesis of Corpus Callosum.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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