Disease Information for Myhre Syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Sunken Cheek Bones
Poor weight gain/child
Hypoplasia Narrow Maxilla
Large/protruding jaw/prognathism
Digital deformities/symmetric
Hypertrophy leg muscles
Muscle hypertrophy
Pseudohypertrophy calf muscle/sign
Mental Deficiency Child
Joint/limit range of motion
Short fingers/toes (Brachydactyly)
Stiffness of joints
Short stature
Short stature Child
Narrow Palpebral Fissures
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Sex & Age Groups
Population/Boy patient
Population/Infant male
Population/Male
Diagnostic Test Results
Pathology
BX/Muscle Biopsy Abnormal
BX/Muscle biopsy/denervation effect
Electrodiagnosis
EMG/Abnormal findings
EMG/Denervation potentials
X-RAY
Xray/Long bones abnormality/Skeletal
Xray/Shortened long bone
Associated Diseases & Rule outs
Associated Disease & Complications
Autism
Congenital urinary tract malformations
Cryptorchidism
Deafness
Facial dysplasia
Growth retardation/failure
Mental retardation
Skeletal dysplasia
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Eponymic (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Myhre Syndrome, Synonym/Growth-mental deficiency syndrome of Myhre
Definition

Myhre Syndrome; Growth-Mental Deficiency Syndrome of Myhre; Myhre syndrome is an extremely rare inherited disorder characterized by mental retardation, short stature, unusual facial features, and various bone (skeletal) abnormalities; Characteristic facial features may include abnormally narrow skin folds (palpebral fissures) between the upper and lower eyelids (blepharophimosis), underdevelopment of the upper jaw bone (maxillary hypoplasia), and an unusually prominent jaw (prognathism); Other findings may include hearing impairment, abnormal enlargement of the muscles (muscular hypertrophy), and/or joint stiffness; Myhre syndrome is thought to be inherited as an autosomal dominant genetic trait----[NORD]-------------

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External Links Related to Myhre 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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