Disease Information for Kenny-Caffey syndrome/KCS (1q42-q43)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Small face
Alopecia/patchy eyebrows
Receding hairline
Cramping in Extremities
Tetany of newborn
Intelligence normal
Mental Deficiency Child
Psychomotor retardation
Deformed hand/digits
Macrocephaly/Large head
Megalocephaly
Wide metopic suture
Dysmorphic appearance/face
Growth/development delay
Sparse eyelashes
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Episodic clusters of attacks
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Children/all
Population/Infant
Laboratory Tests
Abnormal Lab Findings - Decreased
Calcium, serum (Lab)
Parathyroid hormone PTH (Lab)
Abnormal Lab Findings - Increased
Phospholipids, serum (Lab)
Diagnostic Test Results
X-RAY
Xray/Frontal bossing, infant/Skull
Xray/Long bones abnormality/Skeletal
Xray/Short metacarpal bones
Associated Diseases & Rule outs
Associated Disease & Complications
Cataract
Congenital anomalies
Deafness
Dental caries
Dwarfism
Facial dysplasia
Hypocalcemia
Hypoparathyroidism/secondary
Mental retardation
Microphthalmos
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Skeletal dysplasia
Skeletal/bone malformations
Tetany
Tubular stenosis/cortical thickening long bones
Metacarpal Anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Marrow involvement/disorder (ex)
Pathophysiology
Pathophysiology/Gene locus 1q42-q43
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Faulty tubularization long bones
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Eponymic (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Kenny Caffey syndrome KCS (1q42 q43), Synonym/Congenital tubular stenosis, Synonym/Dwarfism-Congenital medullary stenosis syndrome, Synonym/Dwarfism-Cortical thickening of tubular bones, Synonym/Hypocalcemia-Dwarfism-cortical thickening syndrome
Definition

Gene locus 1q42-q43; Synonyms of Kenny Caffey Syndrome; Dwarfism, Cortical Thickening of the Tubular Bones & Transient Hypocalcemia; Kenny Disease; Kenny Syndrome; Medullary Stenosis, Congenital ; Tubular Stenosis, Kenny Type ; KCS2; Kenny-Caffey Syndrome, Dominant Type; Kenny-Caffey Syndrome, Recessive Type ; Kenny-Caffey syndrome is an extremely rare hereditary skeletal disorder characterized by thickening of the long bones, thin marrow cavities in the bones (medullary stenosis), and abnormalities affecting the head and eyes; Most cases are obvious at birth (congenital); The primary outcome of Kenny-Caffey syndrome is short stature; Mental abilities are rarely affected; Individuals with Kenny-Caffey syndrome may also have recurrent episodes of low levels of calcium in the blood stream (hypocalcemia) that is caused by insufficient production of parathyroid hormones (hypoparathyroidism); In most cases, Kenny-Caffey syndrome is inherited as an autosomal dominant trait; Other cases are inherited as an autosomal recessive trait; (NORD rare disease org reference 2005)------------------------------------------------

Kenny"s syndrome

Also known as: Kenny-Caffey syndrome, Kenny-Linarelli syndrome,Dwarfism-congenital medullary stenosis syndrome, dwarfism-tubular bone stenosis, tubular stenosis-hypocalcaemia-convulsions-dwarfism syndrome, tubular stenosis-periodic hypocalcaemia syndrome, and tubular stenosis with hypocalcaemia ;

A hereditary skeletal dysplasia of proportionate dwarfism with characteristic inner cortical thickening and stenosis of the medullary cavities of the tubular bones; Both sexes with equal severity; Onset a few days after birth; Marked by tetanic convulsions, delayed physical development, small face, frontal bossing, large anterior fontanelle, episodes of hypocalcaemic tetany, hyperphosphataemia; Sometimes associated with ocular signs; Activity and intelligence normal; Autosomal dominant inheritance suggested

-------------[whonamedit-com 2005]----------------

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External Links Related to Kenny-Caffey syndrome/KCS (1q42-q43)
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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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