Disease Information for Bird-headed dwarf of Seckel

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Beaked nose/congenital
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facies particular
Facies/Bird like
Flat/Sloping forehead
Narrow face/sign
Old-man facies/infant
Prominent Nose
Hirsutism
Poor weight gain/child
Crowded teeth
Receding chin deformity
Teeth malformed/dysplastic
Mental Deficiency Child
Clitoral enlargement
Clitoral enlargement/newborn
Recurrent URI/Colds/LRI infections
Dysmorphic dwarfism/short stature
Finger contractions/flexion (clinodactyly)
Incurved/fifth fingers
Narrow peaked nasal bridge deformity
Snoring
Dysmorphic appearance/face
Growth/development delay
Proportionate dwarfism
Short stature
Short stature Child
Congenital large eyes/sign
Downward sloping eyes/Antimongoloid slant
Epicanthal folds
Prominent eyes
Anomalous ears/deformities
Ears without lobes
Low set ears/congenital
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Past History
Past history/Premature/low birth weight
Population Group
Child
Population/Pediatrics population
Family History
Family history/Dwarfism
Family history/Skeletal malformations
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
CT Scan
CT Scan/Head Brain/Corpus callosum hypoplasia/agenesis
X-RAY
Xray/Delayed cranial ossification in a child/Head
Associated Diseases & Rule outs
Associated Disease & Complications
Anemia, aplastic
Bird-headed dwarfism/Seckel
Cerebral cyst
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Colloid cyst CNS
Congenital heart disease
Congenital urinary tract malformations
Corpus callosum defect/agenesis
Craniosynostosis
Cryptorchidism
Dental deformities/anomalies
Dwarfism
Facial dysplasia
Growth retardation/failure
Hip dislocation, congenital
Hip dysplasia
Malocclusion-Malalignment teeth/jaw
Mandible hypoplasia/Retrognathia
Mental retardation
Microcephaly/oligophrenia
Micrognathia/congenital small chin
Nanism/dwarfism
Pancytopenia
Patent ductus arteriosis
Radial head dislocation
Teeth enamel hypoplastic
Ventricular septal defect
Disease Mechanism & Classification
Class
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Corpus callosum defect
Pathophysiology/Immune physiology/defective
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Bird headed dwarf of Seckel, Synonym/Bird-headed dwarfism, Seckel type, Synonym/Birdlike face syndrome, Synonym/Familial bird-headed dwarfism, Synonym/Microcephalic dwarfism, Synonym/Microcephalic primordial dwarfism type I, Synonym/Nanocephalic dwarfism, Synonym/Nanocephalic dwarfism/Seckel, Synonym/Seckel syndrome, Synonym/Seckel type dwarfism, Synonym/Seckle nanism, Synonym/Virchow-Seckle Syndrome
Definition

A syndrome of proportionate dwarfism, delayed mental development, microcephaly, and typical facial appearance marked by a birdlike protrusion of midfacial structures------------------------------------Seckel Syndrome

Bird-Headed Dwarfism, Seckel Type;Microcephalic Primordial Dwarfism I; Nanocephalic Dwarfism; Seckel Type Dwarfism;

Seckel Syndrome is an extremely rare inherited disorder characterized by growth delays prior to birth (intrauterine growth retardation) resulting in low birth weight; Growth delays continue after birth (postnatal) resulting in short stature (dwarfism); Other symptoms and physical features associated with Seckel Syndrome include an abnormally small head (microcephaly); varying degrees of mental retardation; and/or unusual characteristic facial features including "beak-like" protrusion of the nose; Other facial features may include abnormally large eyes, a narrow face, malformed ears, and/or an unusually small jaw (micrognathia); In addition, some affected infants may exhibit permanent fixation of the fifth fingers in a bent position (clinodactyly), malformation (dysplasia) of the hips, dislocation of a bone in the forearm (radial dislocation), and/or other physical abnormalities; Seckel Syndrome is thought to be inherited as an autosomal recessive genetic trait-------[NORD Website 2005]------------------

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External Links Related to Bird-headed dwarf of Seckel
Google
Wikipedia
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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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