Disease Information for Osteodysplasia, familial (Melnick Needles)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facies particular
Full Cheeks
Hairy forehead
Prominent forehead/High forehead
Receding chin deformity
Gait disturbance/abnormality
Bowing of extremities
Cubitus valgus/sign
Genu valgus/knockneed/sign
Hypoplastic thumb deformity
Short fingers/toes (Brachydactyly)
Skeletal problems/symptoms/signs
Skull/head enlargement
Short stature
Short stature Child
Eyelid Retraction
Proptosis,bilateral
Big ears
Prominent Ears
Typical Clinical Presentation
Males sicker than females/characteristic
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Otitis Media Recurrent
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Lethal possible/not usual
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Boy patient
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant male
Population/Male
Diagnostic Test Results
X-RAY
Xray/Delayed bone age/slow epiphysis closures
Xray/Ribs inferior bone resorption
Xray/Ribs, notching margins
Xray/Skeletal findings
Associated Diseases & Rule outs
Associated Disease & Complications
Exophthalmos
Facial dysplasia
Hypertelorism/Wide Spaced Eyes
Malocclusion-Malalignment teeth/jaw
Micrognathia/congenital small chin
Osteodysplasia, familial (Melnick Needles)
Rib anomalies/Hypoplastic/deformed
Thoracic deformity/congenital
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Bone disorder (ex)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene locus Chromosome Xq
Pathophysiology/Gene locus Xq25
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Gene locus Xq25-qtel
Process
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/X-Linked dominant inheritance (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
MELNICK NEEDLES OSTEODYSPLASTY, Melnick Needles Syndrome, Melnick Needles syndrome (disorder), MNS, Osteodysplasty, OSTEODYSPLASTY OF MELNICK AND NEEDLES, Syndrome Melnick Needles, Synonym/Melnick-Needles syndrome
Definition

Melnick Needles Syndrome; MNS; Melnick-Needles Osteodysplasty; Osteodysplasty of Melnick and Needles; Melnick-Needles syndrome (MNS) is a genetic disorder of bone characterized by skeletal abnormalities and a specific facial appearance; The skeletal abnormalities include bowing of long bones, s-curved leg bones, ribbon-like ribs and a hardening of the skull base; The typical facial features include prominent, protruding eyes, full cheeks, an extremely small lower jaw and a hairy forehead; The condition may affect many bones of the body causing deformity and in some cases short stature; Melnick-Needles syndrome is thought to be inherited as an X-linked dominant genetic disorder---------[NORD 2005]-------------------------------------- Melnick-Needles syndrome;Generalized osseous dystrophy syndrome, osteodysplasia, osteodysplasty;

A very rare syndrome of generalized bone dysplasia with stunted stature, relatively large cranium and a typical facial appearance; Craniofacial features include micrognathia of the lower jaw, malocclusion, exophthalmos, hypertelorism, full cheeks, high and narrow forehead, and large ears; Skeletal abnormalities include mild bowing of the upper arms and shanks with cubitus valgus and genu valgum, and slight shortening of the distal phalanges, especially the thumbs; The patients usually attract attention because of an abnormal gait and bowed limbs; Recurrent respiratory and ear infections; Present from birth; Male-to-female 1:7 Inheritance is autosomal dominant, but may be X-linked, with lethality in males and survival in females------- [whonamedit_com 2005]--------------

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External Links Related to Osteodysplasia, familial (Melnick Needles)
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NEJM (The New England Journal of Medicine)
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