Disease Information for Dysplasia, craniometaphyseal

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Bony paranasal bossing
Broad forehead/facies
Craniofacial Abnormalities/Congenital
Facies particular
Prominent forehead/High forehead
Prominent supraorbital ridges
Supraorbital bony deformities/congenital
Wide Nasal Bridge
Large/protruding jaw/prognathism
Mouth breathing/Mouth kept open
Mental Deficiency Child
Bossing forehead,infants
Normal height/stature
Skull bony swelling
Widening of Knee Bones
Mixed Sensory/Conductive deafness
Typical Clinical Presentation
Presents/Child square jaw/nasal obstruction/deaf
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/Skeletal malformations
Family history/Deafness
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
CT Scan
CT/Bone Mineral Density/Increased
X-RAY
Xray/Erlenmeyer flask deformity/long bones/Skeletal
Xray/Femur clubbed shape distal
Xray/Flare Distal Long Bones
Xray/Frontal bossing, infant/Skull
Xray/Increased bone density
Xray/Long bones abnormality/Skeletal
Xray/Long bones narrow medullary canal/thick cortex
Xray/Long bones/cylindrical/lost metaphyseal modeling
Xray/Lower Femur deformities/Ehrlenmeyer flask
Xray/Metaphysis lesion/Site usual
XRAY/Metaphysis widened flare lucent/shaft thickened dense
Xray/Parietal bossing/Skull
Xray/Ribs thickened/short
Xray/Sclerotic skull base
Xray/Skull sclerotic calvarium
Xray/Sinuses obliterated/absent/bony overgrowth
Associated Diseases & Rule outs
Associated Disease & Complications
Bilateral facial paralysis
Bony deformities/developmental
Deafness
Deafness, conduction type
Hypertelorism/Wide Spaced Eyes
Malocclusion-Malalignment teeth/jaw
Mental retardation
Nasal obstruction
Rib anomalies/Hypoplastic/deformed
Skeletal dysplasia
Skeletal/bone malformations
Skull deformities
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Lower extremity involvement/disorder (ex)
CLASS/Long bone involvement/disorder (ex)
CLASS/Metaphysis Lesion/Involvement
CLASS/Skeletal (category)
CLASS/Skull disorder (ex)
Pathophysiology
Pathophysiology/Dominant and Autosomal recessive variants
Pathophysiology/Gene locus 5p15.2-p14.1
Pathophysiology/Gene locus 6q21-22
Pathophysiology/ANK gene (Pyrophosphate bone transport)
Pathophysiology/Faulty tubularization long bones
Pathophysiology/Metaphysis dysplasia/dysostosis
Pathophysiology/Skeletal defomities/acquired
Pathophysiology/Spine Neck Pelvis spared deformities
Pathphysiology/Skull base thickening/8 and 7 nerves
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Dysplasia/aplasia (ex)
PROCESS/Hereditary dominance/incomplete penetrance (ex).
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Congenital CNS disorder (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
74 DYSPLASIAS, cranio metaphyseal, dyscrasia, DYSPLASIA, Dysplasia (morphologic abnormality), DYSPLASIAS, Synonym/CMD (Craniometaphyseal dysplasia)
Definition

Craniometaphyseal dysplasia (CMD) is a rare genetic bone remodeling disorder; Its main characteristics are undertubulation of the long bones, especially in the lower extremities causing deformities of the metaphyses in association with sclerosis or hyperostosis of the bones of the skull base (Schroder et al;, 1992; Yamamoto et al;, 1993; Rimseyer et al, 1993); Broadening of the short tubular bones with metaphyseal and diaphyseal abnormalities and, sometimes, diaphyseal expansion and widening of the ribs and clavicles (Langer et al;, 1991) may also be observed in this syndrome; Craniometaphyseal dysplasia occurs in autosomal dominant and recessive forms; The dominant form due to one copy of the gene is more common and less severe; The gene in chromosome region 5p15;2p14_1 is the ANK gene which encodes a protein involved in the transport of pyrophosphate into the bone matrix; Pyrophosphate levels are critical for the regulation of bone mineralization; The gene for the recessive form is in a different location, in chromosome region 6q21-22; Its function is not yet known; Common Misspellings: craniometaphyseal displasia, craniometaphyseal diplasia

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Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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