cri-du-chat syndrome


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Related to cri-du-chat syndrome: Down syndrome

cri-·du-·chat syn·drome

, cri du chat syndromecat-cry syndrome
a disorder due to deletion of the short arm of chromosome 5, characterized by microcephaly, hypertelorism, antimongoloid palpebral fissures, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic high-pitched catlike whine.

cri-du-chat syndrome

(crē-do͞o-shä′)
n.
A congenital chromosomal disorder marked by microcephaly, epicanthal folds, micrognathia, strabismus, psychomotor and intellectual disability, and a characteristic high-pitched cry.
An embryopathy which is more common in females, caused by a loss of the short arm of chromosome 5, occasionally due to a ring chromosome
Prognosis Lifespan relatively normal

cri-du-chat syndrome

Lejeune syndrome Pediatrics An embryopathy more common in ♀, due to loss of short arm of chromosome 5, occasionally due to a ring chromosome Clinical High-pitched feline mewing which often diminishes with age, low birth weight, mental and physical retardation, hypertelorism, hypotonia, microcephaly, micrognathia, epicanthal folds, a moon-like facies, low-set ears, congenital heart defects, short metacarpals and metatarsals, pes planus, and partial syndactyly Prognosis Lifespan relatively normal

cri-du-chat syn·drome

(krē-dū-shah' sin'drōm)
A disorder due to deletion of the short arm of chromosome 5, characterized by microcephaly, hypertelorism, antimongoloid palpebral fissures, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic high-pitched catlike whine.
[Fr. cat's cry]

Lejeune,

Jerôme J.L.M., French cytogeneticist, 1926–.
Lejeune syndrome - a disorder characterized by microcephaly, antimongoloid palpebral fissures, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic high-pitched catlike whine. Synonym(s): cri-du-chat syndrome

cri-du-chat syn·drome

(krē-dū-shah' sin'drōm)
Disorder characterized by microcephaly, hypertelorism, antimongoloid palpebral fissures, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic high-pitched catlike whine.
References in periodicals archive ?
Children with Down and Cri-du-Chat syndrome are examples of syndromes which can display conductive, sensorineural or mixed-type hearing losses.
These new microdeletions support the MaterniT21 PLUS test's original Enhanced Sequencing Series of clinically relevant microdeletions, including 22q11.2 deletion (DiGeorge syndrome), 5p minus (Cri-du-chat syndrome), 15q deletion (Prader-Willi/Angelman syndromes), 1p36 deletion syndrome, and two additional trisomies, trisomy 16 and 22.
Sequenom Laboratories will start reporting these clinically relevant microdeletions, including 22q11.2 deletion syndrome (DiGeorge), Cri-du-chat syndrome, Prader-Willi/Angelman syndrome, 1p36 deletion syndrome, as well as trisomies 16 and 22 in the last week of the month.