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.
Aicardi Syndrome: natural history and possible predictors of severity.
Aicardi syndrome is a genetic disorder most commonly affecting female patients.
Shortly after her birth, our daughter Julia was diagnosed with Aicardi syndrome. This rare disorder occurs almost exclusively in females and is characterized by the partial or complete absence of a key brain structure called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms.
One parent who has a 21-year-old daughter with special needs decided to celebrate the girl's birthday with dinner at a fancy restaurant: "Sarah has Aicardi Syndrome, a rare genetic syndrome that affects only girls," the parent explained.
Leah Ward, whose five month-old sister Tamzin is dying from a very rare genetic disorder called Aicardi Syndrome, said seeing Santa was definitely the best part of the holiday so far.
Leah Edwards, whose five-month-old sister Tamzin is dying from a rare genetic condition called Aicardi syndrome, said she loved the animals.
Leah's five-month-old baby sister Tamzin is dying from a very rare disease called Aicardi Syndrome. She and her grandma Margaret Charlton were nominated to go to Lapland for a well-deserved break.
118 University of Maine Orono, ME 04469-5749 (207) 581-3119 (207) 581-3120 (fax) ??um-acc@maine.edu 3 AGYRIA See: Lissencephaly AICARDI SYNDROME See also: Agenesis of the Corpus Callosum; Epilepsy; Visual Impairments Aicardi Syndrome Awareness and Support Group/Network 29 Delavan Ave.
Nine-year-old Leah's baby sister Tamzin, aged five months, is dying from a very rare condition called Aicardi Syndrome. There are only 300 known cases in the world.
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) ??um-acc@maine.maine.edu 3 AGYRIA See: Lissencephaly AICARDI SYNDROME See also: Agenesis of the Corpus Callosum; Epilepsy; Visual Impairments Aicardi Syndrome Awareness and Support Group 29 Delavan Ave.
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).