Disease Information for Curry-Jones Syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Anteverted Nares deformity
Broad Philtrum
Craniofacial Abnormalities/Congenital
Downturned corners of mouth/Carp mouth
Face broad/flat midface
Facial Asymmetry
Flat philtrum
Lip pits deformity
Prominent forehead/High forehead
Short flat nose
Duplication thumb nails
Erosive skin lesions
Freckles on feet/area
Hairy patches
Patchy red skin/areas
Scar like lesions axilla/trunk
Bile stained/Bilious colored vomitus
Receding chin deformity
Hypotonia
Toe deviation
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Mental Deficiency Child
Seizures
Slow Motor Development
Broad thumb sign
Coronal synostosis/unilateral
Cranial asymmetry
Cranial sutures ridging
Metopic sutures hypoplastic ridging
Small nose
Snoring
Lateral Asymmetry
Asymmetric eye placement
Narrow Palpebral Fissures
Ptosis (blepharoptosis)
Unilateral microphthalmia
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Children/all
Population/Infant
Diagnostic Test Results
CT Scan
CT Scan/Head Enlarged/Asymmetric brain ventricles
Associated Diseases & Rule outs
Associated Disease & Complications
Amblyopia
Anal Atresia
Choanal atresia
Chronic bowel pseudo-obstruction syndrome
Congenital anomalies
Constipation
Corpus callosum defect/agenesis
Craniosynostosis
Cryptorchidism
Curry-Jones syndrome
Duodenal obstruction
Duodenum, atresia
Esophagitis, reflux/GERD
Facial dysplasia
Gut Anomalies
Hypertelorism/Wide Spaced Eyes
Imperforate anus
Incomplete small bowel ostruction
Intestine malrotation
Iris Coloboma Defect
Mental retardation
Micrognathia/congenital small chin
Microphthalmos
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Myofibromas of colon
Plagiocephaly
Polydactyly/Supernumery digits
Syndactyly/Webbing
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Corpus callosum defect/agenesis
Pathophysiology
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Dystostosis/craniofacial (ex)
Definition

A syndrome of unilateral coronal synostosis, plagiocephaly, craniofacial asymmetry, unilateral microphthalmia, iris coloboma, broad thumbs, syndactyly of the hands, polydactyly of the feet, erosive skin lesions, gastrointestinal abnormalities, and moderate developmental delay----[Joblonski/NIH Archives 2007]-------------

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External Links Related to Curry-Jones Syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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