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- Disease Information
- Disease Comparison
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Disease Processes ▼
- Auto Immune
- Vascular-Arteriosclerosis
- Biochemical
- Congenital-developmental
- Deficiency
- Degenrative-Necrosis
- Electromagnetic-Physics
- Eponymic
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- Idiopathic
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Major Organs-Systems ▼
- Systemic
- Pediatric
- Nervous & Sensory System (Neurology)
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- Respiratory (Pulmonary) System
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- Urinary System
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- Tissue/Cells/Organelles
Disease Information for Say Syndrome 1
- 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
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A syndrome of microcephaly, cleft palate, developmental delay, abnormally shaped ears, small hands, abnormal dermatoglyphics, kidney defects, and other abnormalities--------------[Jablonski/NIH Archives 2007]-----------
(Edit)
- External Links Related to Say 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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