Disease Information for Robinow dwarfing syndrome/mesomelic dys

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Anteverted Nares deformity
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Fetal-like facies
Inverted V upper lip/Tented lip
Long Philtrum/Facies
Open/triangular mouth shape
Prominent forehead/High forehead
Dermatoglyphic anomalies
Genital Hypoplasia/Male
Penis, small (Micropenis)
Lax abdominal muscles
Bifid uvula
Crowded teeth
Receding chin deformity
Uvula anomaly/deformity
Bifid thumb deformity
Brachyacromelia
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Intelligence normal
Slow Motor Development
Clitoral/vulva hypoplasia
Dysmorphic dwarfism/short stature
Limitation motion/elbow
Macrocephaly/Large head
Megalocephaly
Short fingers/toes (Brachydactyly)
Short forearm deformity
Skull/tall/dolichiocephalic deformity/sign
Sternum deformities
Nose short/upturned
Dysmorphic appearance/face
Short stature
Short stature Child
Wide Palpebral Fissures
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
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
X-RAY
Xray/Frontal bossing, infant/Skull
Xray/Hemivertebrae deformity/Spine
Associated Diseases & Rule outs
Associated Disease & Complications
Congenital urinary tract malformations
Cryptorchidism
Dwarfism
Ear deformities/congenital
Hypertelorism/Wide Spaced Eyes
Hypogonadism, male
Inguinal Hernia
Limb deformities/anomalies
Micrognathia/congenital small chin
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Nail dystrophy
Nanism/dwarfism
Pectus excavatum
Pulmonic valve stenosis
Renal anomalies
Rib anomalies/Hypoplastic/deformed
Right ventricular outflow obstruction
Robinow dwarfing syndrome/mesomelic dysplasia
Secondary female hypogonadism
Thoracic deformity/congenital
Umbilibal Anomalies
Umbilical hernia
Vertebral anomalies
Genital Hypoplasia
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Gene locus 9q22
Pathophysiology/Gene locus Chromosome 9
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Secondary Testicular Failure
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Dystostosis/craniofacial (ex)
PROCESS/Dysplasia disorder/Syndromes (ex)
Synonyms
Synonym
Robinow dwarfing syndrome mesomelic dys, Synonym/Acral dysostosis with facial/genital abnormalities, Synonym/Fetal face syndrome, Synonym/Mesomelic dwarfism, Synonym/Robinow Dwarfism, Synonym/Robinow mesomelic dysplasia, Synonym/Robinow Silverman-Smith syndrome
Definition

The cardinal features consist of characteristic (fetal-like) facies, mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned nose with anteverted nares, long philtrum, receding chin, brachydactyly, hypoplastic genitalia, and a normal karyotype. Intelligence is usually normal but delayed physical and mental development was noted in about 18%-------[Jablonski/NIH anomalies archive]----------

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External Links Related to Robinow dwarfing syndrome/mesomelic dys
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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