Disease Information for Chudley Syndrome 1

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Clinical Manifestations
Signs & Symptoms
Macrosomia
Particular physiognomy/Odd looking kids
Bitemporal narrowing/Bifrontal narrowing
Craniofacial Abnormalities/Congenital
Inverted V upper lip/Tented lip
Narrow face/sign
Short neck/Brevicollis
Short upper lip
Wide Nasal Bridge
Dermatoglyphic anomalies
Finger ridge count low
Palm/simian crease (single)
Small testes
High arched palate
Brachyacromelia
Decreased attention span
Mental Deficiency Child
Genu valgus/knockneed/sign
Incurved/fifth fingers
Short stature
Short stature Child
Almond shaped eyes
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
Associated Diseases & Rule outs
Associated Disease & Complications
Congenital anomalies
Cryptorchidism
Facial dysplasia
Hip dislocation, congenital
Hypogonadism, male
Mental retardation
Microcephaly/oligophrenia
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Obesity
Obesity in Children
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Secondary Testicular Failure
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Chudley Syndrome 1, Synonym/Chudley-Lowry-Hoar Syndrome
Definition

Moderate to severe mental retardation, short stature, mild obesity, hypogonadism, low total finger ridge count, and distinctive narrow facies marked by macrostomia, and abnormal palpebral fissures, upper lip, and nose----------[Jablonski/NIH Archive 2007]-------------

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External Links Related to Chudley Syndrome 1
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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