Deletion of Short Arm of Chromosome 5 Syndrome Definition

Deletion of Short Arm of Chromosome 5 Syndrome: An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).

Terms Related to Deletion of Short Arm of Chromosome 5 Syndrome

Royers Syndrome
A chromosomal disorder associated with a deletion of the proximal portion of the long arm of chromosome 15 (15q11-q13) in the majority of affected individuals. ...
Male Turners Syndrome
A multifaceted disorder that is characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY ...
Down Syndrome
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting ...
Isochromosome
Metacentric chromosomes produced during meiosis or mitosis when the centromere splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome ...
De Lange Syndrome
A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, ...
Mongolism
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting ...
Rubinstein Syndrome
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus ...

Synonym: crying cat syndrome, cri du chat syndrome, chromosome 5p syndrome, chromosome 5 short arm deletion syndrome, 5p deletion syndrome, 5p- syndrome.

Additional tags: chromosome 5 short stature, chromosome 5q deletion syndrome definition, definition of chromsone 5 and

Medical Conditions Dictionary

Deletion of Short Arm of Chromosome 5 Syndrome Definition

Terms Related to Deletion of Short Arm of Chromosome 5 Syndrome

Royers Syndrome

Male Turners Syndrome

Down Syndrome

Isochromosome

De Lange Syndrome

Mongolism

Rubinstein Syndrome

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