Disease Information for Cleidocranial digital dysostosis

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Broad flat nose/facies
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facies particular
Small face
Poor weight gain/child
Delayed dentition/teething
High arched palate
Receding chin deformity
Teeth malformed/dysplastic
Digital deformities/symmetric
Mental Deficiency Child
Hypoplastic thumb deformity
Irregular length fingers
Long/Tall neck
Narrow sloping shoulders
Short fifth digits
Dysmorphic appearance/face
Short stature
Short stature Child
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Diagnostic Test Results
X-RAY
Xray/Mandible symphysis union failure/Jaw
Xray/Delayed fontanelle closure
Xray/Delayed bone age/slow epiphysis closures
Xray/Delayed closure pelvic symphysis
Xray/Distal Clavicle Bone Resorption/Chest
Xray/Distal Phalanges Tuft Resorption
Xray/Frontal bossing, infant/Skull
Xray/Symphysis Pubis Widened
Xray/Wide pelvic joint/symphysis/Pelvis
Xray/Wormian bones/Skull
Xray/Paranasal sinus hypoplasia/dysplasia
Associated Diseases & Rule outs
Associated Disease & Complications
Brachycephaly
Clavicle absence/hypoplasia
Congenital anomalies
Craniosynostosis
Deafness
Deafness, conduction type
Deafness, congenital
Dental deformities/anomalies
Ectopic teeth
Facial dysplasia
Growth retardation/failure
Hypertelorism/Wide Spaced Eyes
Mental retardation
Micrognathia/congenital small chin
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Pelvis deformity/congenital
Spina bifida
Spina bifida occulta
Supernumerary teeth
Syringomyelia
Thoracic deformity/congenital
Vertebral anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Faces-cranio online database (ex)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome 6
Pathophysiology/Gene locus Chromosome 6p
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Gene locus 8q22
Pathophysiology/Gene locus 8q
Pathophysiology/Gene locus chromosome 8
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Congenital CNS disorder (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
CCD, CCD Cleidocranial dysplasia, CLCD, CLCD Cleidocranial dysplasia, cleidocranial digital dysostosis, Cleidocranial Dysostoses, Cleidocranial Dysostosis, Cleidocranial dysostosis (disorder), Cleidocranial dysostosis syndrome, Cleidocranial dysplasia, cleidocranial dysplasia (CCD, CLCD), Cleidocranial Dysplasias, Craniocleidodysostosis, Dysostoses, Cleidocranial, dysostosis cleidocranial, dysostosis cleidocranialis, dysostosis cleidocraniodigitalis, dysostosis cleidocraniopelvina, dysostosis generalisata, Dysostosis, Cleidocranial, dysplasia cleidocranialis, dysplasia cleidofacialis, Dysplasia, Cleidocranial, Dysplasias, Cleidocranial, Marie Sainton syndrome, mutational dysostosis, osteodental dysplasia, osteodental dysplasia (ODD), pelvicocleidocranial dysostosis, Scheuthauer Marie Sainton syndrome, Synonym/Cleidocranial Dysplasia, Synonym/Dysostosis cleidocraniodigitalis, Synonym/Marie-Sainton Disease, Synonym/Marie-Sainton syndrome, Synonym/Osteodental dysplasia, Synonym/Osteodental dysplasia (ODD), Synonym/Pelvicocleidocranial dysostosis, Synonym/Scheuthauer-Marie-Sainton syndrome, Synonym/Yunis Varon syndrome
Definition

A rare autosomal dominant condition in which there is defective ossification of the cranial bones with large fontanels and delayed closing of the sutures, complete or partial absence of the clavicles, wide pubic symphysis, short middle phalanges of the fifth fingers, and dental and vertebral anomalies (From Dorland, 27th ed)-----------

A congenital disorder of bone formation with clavicular hypoplasia or agenesis with a narrow thorax, allowing approximation the shoulders in front of the chest occurring with delayed ossification of the skull, excessively large fontanelles, and delayed closing of the sutures; The fontanelles may remain open until adulthood, but the sutures often close with interposition of wormian bones; Bosses of the frontal, parietal, and occipital regions give the skull a large globular shape with small face; The characteristic skull abnormalities are sometimes referred to as the "Arnold head" named after the descendants of a Chinese who settled in South Africa and changed his name to Arnold; More than 100 additional anomalies may be associated, including wide pubic symphysis, dental abnormalities, short middle phalanges of the fifth fingers, delayed skeletal maturation, hearing deficiency, and mild mental retardation in some cases;Head and neck: Brachycephaly with bossing of the frontal, parietal, and occipital bossing give the head a large globular appearance with a small face because of smallness of the maxillary and zygomatic bones and relative prognathism; Additional abnormalities include open fontanels; open cranial sutures; calvarial thickening in the supraorbital part of the bone, squama of the temporal bones, and the occipital bone; wormian bones filling suture lines, occasional absence of the parietal bones, faulty development of the foramen magnum, and dysplasia of the paranasal sinuses and mastoids

-----------[Jablonski/NIH Archives 2007]----------

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