Disease Information for Scott's Craniodigital syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facies looks startled
Facies particular
Long Philtrum/Facies
Pinched/thin nose
Prominent Eyebrow/Forehead
Thin upper lip
Wide Nasal Bridge
Congenital bushy eyebrows/long lashes/low hair line
Congenital low sideburns
Dermatoglyphic anomalies
Hirsutism
Hypertrichosis
Increased body hair
Increased scalp hair/growth
Poor weight gain/child
Receding chin deformity
Syndactyly 2nd , 3rd and 4th fingers
Syndactyly 2nd and 3rd toes
Webbed fingers
Mental Deficiency Child
Dysmorphic dwarfism/short stature
Snoring
Dysmorphic appearance/face
Short stature
Short stature Child
Long eyelashes
Thick/Coarse eyebrows
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Dwarfism
Family history/Skeletal malformations
Sex & Age Groups
Population/Boy patient
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant male
Population/Male
Associated Diseases & Rule outs
Associated Disease & Complications
Brachycephaly
Dwarfism
Facial dysplasia
Growth retardation/failure
Hypertelorism/Wide Spaced Eyes
Limb deformities/anomalies
Mandible hypoplasia/Retrognathia
Mental retardation
Micrognathia/congenital small chin
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Syndactyly/Webbing
Talipes varus deformity
Webbed fingers or toes/congenital
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
CLASS/Multisystem/organ involvement/pathology (ex)
Pathophysiology
Pathophysiology/Craniodigital congemital syndromes
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Congenital CNS disorder (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Scott's Craniodigital syndrome, Synonym/Craniodigital syndrome with mental retardation, Synonym/Scott syndrome
Definition

Scott Craniodigital Syndrome; Craniodigital Syndrome of Scott; Craniodigital Syndrome-Mental Retardation, Scott Type; Scott Syndrome; Scott craniodigital syndrome is a condition that has only been found in two families; The manifestations include unusual head shape, growth and developmental delay, and mild webbing between the fingers and toes (syndactyly); [NORD 2005]------------------------------------------------A craniodigital syndrome characterized by abnormalities of the skull and fingers consisting of micrognathia, thin alae nasi and broad bridge, thin upper lip, and syndactyly in association with mild forms of mental retardation [jablonski/nih archives]

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External Links Related to Scott's Craniodigital 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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