Aicardi syndrome


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Ai·car·di syn·drome

(ă-kahr-dē'), [MIM*304050]
an X-linked dominant disorder with lethality in hemizygous males; characterized by agenesis of corpus collosum, chorioretinal abnormality with "holes," cleft lip with or without cleft palate, seizures, and characteristic EEG changes.

Aicardi Syndrome

An X-linked condition of early onset (before 5 months of age), which is characterised by seizures, spasms, mental retardation, muscular hypotonicity and lacunar retinal defects. The defect maps to the AIC locus on chromosome Xp22, in the region which encodes steroid sulfatase. It affects girls and boys with Klinefelter Syndrome.

Ai·car·di syn·drome

(ī-kahr'dē sin'drōm)
An X-linked dominant disorder with lethality in hemizygous males; characterized by agenesis of corpus callosum, chorioretinal abnormality with "holes," cleft lip with or without cleft palate, seizures, and characteristic EEG changes.

Aicardi,

Jean Dennis, French neurologist, 1924–.
Aicardi syndrome - agenesis of the corpus callosum with infantile spasms in female babies.

Ai·car·di syn·drome

(ī-kahr'dē sin'drōm) [MIM*304050]
X-linked dominant disorder lethal in hemizygous males; characterized by agenesis of cor-pus callosum, chorioretinal abnormality with "holes," cleft lip with or without cleft palate, seizures, and characteristic electroencephalographic changes.
References in periodicals archive ?
And Darryl and Amy - who bought Lili a pony called Bobby when she was born - are also planning a fund-raising horse ride and walk to raise both awareness and funds for Aicardi syndrome.
Leah Edwards, whose five-month-old sister Tamzin is dying from a rare genetic condition called Aicardi syndrome, said she loved the animals.
htm 1,2,3,4,5 ADRENOCORTICOTROPIC HORMONE DEFICIENCY See: Adrenal Disorders; Pituitary Tumors ADRENOGENITAL SYNDROME See: Adrenal Disorders ADRENOLEUKODYSTROPHY See: Leukodystrophy; Tay-Sachs Disease ADRENOLEUKODYSTROPHY, NEONATAL See: Leukodystrophy; Tay-Sachs Disease AGENESIS OF COMMISSURA MAGNA CEREBRI See: Agenesis of the Corpus Callosum AGENESIS OF THE CORPUS CALLOSUM See also: Aicardi Syndrome ACC Network 5749 Merrill Hall, Rm 18 University of Maine Orono, ME 04469-5749 (207) 581-3119 (207) 581-3120 (fax) ?
Nina Rains' 21-year-old daughter, Lara, has been diagnosed with Aicardi syndrome, seizure disorder, autism, mental retardation and severe expressive language disorder (non-verbal).
Nine-year-old Leah's baby sister Tamzin, aged five months, is dying from a very rare condition called Aicardi Syndrome.
Dakotah has Aicardi syndrome, a rare congenital disorder in which the corpus callosum has failed to develop.
com 1,2,3,4,5 ADRENOCORTICOTROPIC HORMONE DEFICIENCY See: Adrenal Disorders; Pituitary Disorders ADRENOLEUKODYSTROPHY See: Leukodystrophy; Tay-Sachs Disease ADRENOLEUKODYSTROPHY, NEONATAL See: Leukodystrophy; Tay-Sachs Disease AGENESIS OF COMMISSURA MAGNA CEREBRI See: Agenesis of the Corpus Callosum AGENESIS OF THE CORPUS CALLOSUM See also: Aicardi Syndrome ACC Network 5749 Merrill Hall, Rm.