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- Disease Information
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Disease Processes ▼
- Auto Immune
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Major Organs-Systems ▼
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Disease Information for Chudley Syndrome 1
- 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
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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
- 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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