Disease Information for Osteopathia striata with cranial stenosis

Ads
Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Square facies
Sunken Cheek Bones
Wide Nasal Bridge
Abdominal Wall Defects
Coarse Tongue
High arched palate
Hypoplasia Narrow Maxilla
Large/protruding jaw/prognathism
Thin lips
Unerupted teeth
Mental Deficiency Child
Progressive enlargement of Skull/infant
Psychomotor retardation
Finger contractions/flexion (clinodactyly)
Foot deformity
Long thin fingers/toes (arachnodactyly)
Macrocephaly/Large head
Megalocephaly
Skeletal problems/symptoms/signs
Delayed speech development/impediment
Dysmorphic appearance/face
Hypoplastic supraorbital ridges
Ptosis (blepharoptosis)
Low set ears/congenital
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Children/all
Population/Infant
Diagnostic Test Results
X-RAY
Xray/Delayed fontanelle closure
Xray/Bone abnormality
Xray/Frontal bossing, infant/Skull
Xray/Increased bone density
Xray/Long bones abnormality/Skeletal
Xray/Sclerotic skull base
Xray/Skeletal findings
Xray/Skull abnormality
XRAY/Thickened shafts long bones
Xray/Vertebral Arch/Pars Deformity
Associated Diseases & Rule outs
Associated Disease & Complications
Atrial septal defect
Cataract
Cleft Lip
Cleft palate/deformity
Clubbed foot/congenital
Congenital anomalies
Craniosynostosis
Deafness
Deafness, congenital
Ear deformities/congenital
Facial dysplasia
Facial nerve palsy/secondary
Gut Anomalies
Hydrocephalus
Hypertelorism/Wide Spaced Eyes
Hypoplasia paranasal sinuses
Intestine malrotation
Mental retardation
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Nasal obstruction
Omphalocele
Osteopathia striata with cranial stenosis
Osteopetrosis
Pectus excavatum
Spondylolisthesis
Umbilibal Anomalies
Ventricular septal defect
Vertebral anomalies
Facial Paralysis
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Bone disorder (ex)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Osteopathia striata with cranial stenosis, Synonym/Cranial sclerosis-osteopathia striata macrocephaly, Synonym/Fairbank disease, Synonym/Hyperostosis generalisata with striations, Synonym/Osteorhabdotosis, Synonym/Voorhoeve dyschondroplasia
Definition

A severe bone dysplasia in which osteopathia striata is associated with cranial sclerosis, dysmorphic facies, cleft palate, deafness, heart defects, and vertebral anomalies with variability of expression. Neurological findings range from normal development to psychomotor retardation and hydrocephalus---------[Jablonski/NIH Archives 2007]---------

(Edit)

External Links Related to Osteopathia striata with cranial stenosis
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)
Ads