Disease Information for Chromosome 22q13.3 deletion syndrome (22q13.3)

Synonyms:

Chromosome 22q13 3 deletion syndrome (22q13 3)

Definition:

under construction gene locus 22q13-3;The terminal 22q13-3 deletion syndrome is characterized by severe expressive language delay and mild mental retardation; minor dysmorphisms have been reported in some patients; CLINICAL FEATURES;global developmental delay and absent or severely delayed expressive speech; Hypotonia was present in 97% of patients and 95% showed normal to accelerated growth; Other less common features associated with this syndrome included increased tolerance to pain, dysplastic toenails, chewing behavior, fleshy hands, dysplastic ears, pointed chin, dolichocephaly, ptosis, tendency to overheat, and epicanthic folds; Neurologic examination showed mild hypotonia and minor dysmorphic features (dolichocephaly, epicanthic folds, and saddle nose with bulbous tip); very few organ malformations had been reported in patients with 22q13 deletion syndrome; [OMIM Nov 2004]--------------------------------. Variant, Subdivision or broader category is the Phelan-McDermid Syndrome; Deletion 22q13 Syndrome; Phelan-McDermid syndrome is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 22 is missing (deleted or monosomic); Although the range and severity of symptoms may vary, Phelan-McDermid syndrome is generally thought to be characterized by low muscle tone, normal to accelerated growth, absent to severely delayed speech, moderate to profound mental retardation, and minor dysmorphic features; A rare number of cases with much smaller (submicroscopic) deletions of 22q13 are reported to result in mild developmental delay Current research indicates that the inability of the gene involved to produce sufficient protein for normal functioning (haploinsufficiency) may be responsible for most of the neurologic symptoms (developmental delay and absent speech) associated with this disorder [NORD 2005]

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