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

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Depressed nasal bridge
Pointed chin
Dysplasia Toenails
Accelerated growth Child
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Fleshy Hands
Hypotonia
Mouth Hangs Open Infant
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Babkin infant sign/Abnormal
Delayed speech/language development
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Increased tolerance to pain/Analgesia/Awake
Infant Head Support Delay
Mental Deficiency Child
Moro reflex Poor/Absent Infant
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Rooting infant sign/Abnormal
Slow Motor Development
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Skull/tall/dolichiocephalic deformity/sign
Saddle Nose Deformity
Accelerated growth rate child/below age five
Epicanthal folds
Ptosis (blepharoptosis)
Anomalous ears/deformities
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Diagnostic Test Results
Pathology
PATH/Visceromegaly
Associated Diseases & Rule outs
Associated Disease & Complications
Hyperthermia
Mental retardation
Neonatal Hypotonia/Floppy Baby Syndrome
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Chromosome gene/segment deletion (ex)
Pathophysiology/Gene locus 22q13
Pathophysiology/Gene locus 22q13.3
Pathophysiology/Gene locus chromosome 22
Pathophysiology/Gene locus Chromosome 22q
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Dystostosis/craniofacial (ex)
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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