Disease Information for Say Syndrome 1

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Dermatoglyphic anomalies
Scalp hair sparse/thin
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Hypotonia
Mouth Hangs Open Infant
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Tapered fingers
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
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
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Hypoplastic distal phalanges
Low set/odd position thumbs
Short tapered thin fingers
Small hands/feet
Growth/development delay
Short stature
Short stature Child
Ptosis (blepharoptosis)
Anomalous ears/deformities
Big ears
Prominent Ears
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
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Congenital anomalies
Facial dysplasia
Hypospadius anomaly
Mental retardation
Microcephaly/oligophrenia
Micrognathia/congenital small chin
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Neonatal Hypotonia/Floppy Baby Syndrome
Renal anomaly/aplasia/hypoplasia
Renal tubular acidosis
Say Syndrome
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Say Syndrome 1, Synonym/Cleft palate-microcephaly-large ears-short stature syndrome
Definition

A syndrome of microcephaly, cleft palate, developmental delay, abnormally shaped ears, small hands, abnormal dermatoglyphics, kidney defects, and other abnormalities--------------[Jablonski/NIH Archives 2007]-----------

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External Links Related to Say 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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