Disease Information for Chondroectodermal dysp.(Ellis-Van Crev)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Absent pubic/axillary hair
Alopecia/patchy eyebrows
Axillary hair loss
Nails hypoplastic/dysplastic
Pubic hair loss/Thinning
Sparse hair distribution/Hypotrichosis
Conical teeth
Natal teeth/newborn
Notched upper lip
Small teeth/microdontia/pegs
Teeth malformed/dysplastic
Short arms/legs
Mental Deficiency Child
Long narrow thorax
Postaxial polydactyly
Short Limbs Deformity
Skeletal problems/symptoms/signs
Short stature
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Ethnic or Racial Factors
Amish population
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Diagnostic Test Results
Pathology
PATH/Cartilage biopsy/Abnormal
X-RAY
Xray/Distal ulna/radius deformity
Associated Diseases & Rule outs
Associated Disease & Complications
Atrial septal defect
Atrioventricula canal/Endocardial cushion defect
Cataract
Congenital anomalies
Congenital heart disease
Cor triloculare/biventriculare
Cryptorchidism
Dandy-Walker syndrome
Dental deformities/anomalies
Dwarfism
Epispadius
Esotropia
Facial dysplasia
Hydrotic ectodermal dysplasia
Mental retardation
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Nail dystrophy
Pectus excavatum
Pelvis deformity/congenital
Polydactyly/Supernumery digits
Talipes varus deformity
Teeth enamel hypoplastic
Valvular heart disease
Ventricular septal defect
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Cartilage involvement/disorder (ex)
Pathophysiology
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
chondrodysplasia ectodermica, chondroectodermal dysplasia, chondroectodermal dysplasia (CED), Chondroectodermal dysplasia (disorder), Chondroectodermal dysplasia syndrome, Chondroectodermal Dysplasias, dwarfism polydactyly dysplastic nails syndrome, dysplasia chondroectodermal, Dysplasia, Chondroectodermal, Dysplasias, Chondroectodermal, Ellis van Creveld, Ellis van Creveld (EvC) syndrome, ELLIS VAN CREVELD SYNDROME, EVC, EVC Ellis van Creveld syndr, EVC Ellis van Creveld syndrome, MESOECTODERMAL DYSPLASIA, polydactyly chondrodystrophy syndrome, six fingered dwarfism, Syndrome, Ellis Van Creveld, Synonym/Acrodysplasia III, Synonym/Mesoectodermal Dysplasia, Synonym/Polydactyly-Chondrodystrophy syndrome
Definition

Ellis-van Creveld syndrome;Acrodysplasia III, chondrodysplasia ectodermica, chondroectodermal dysplasia, mesoectodermal dysplasia, polydactyly-chondrodystrophy syndrome;A classic congenital syndrome of disproportionate short-limb dwarfism; acromelic dwarfism which is a very rare form of mesomelic dwarfism; Other characteristics are polydactyly (six-fingered dwarfism), a long narrow thorax, hydrotic ectodermal dysplasia, hypoplastic nails and teeth, and congenital heart defects such as atrial and ventricular defects and cleft mitral valve; Associated abnormalities may include genital anomalies, scant or fine hair, mental retardation (30 %), cryptorchism, epispadias, and talipes equinovalgus; There is increased mortality during first year of life, particularly with heart defect;Some authors suggest that there are many overlapping features of renohepatopancreatic dysplasia and Ellis-van Creveld and Jeune syndromes, which indicate that these three conditions may be parts of a disease spectrum rather than being distinct entities; It was described by Ellis and van Creveld in 1940; Very few cases have been reported in the literature; These writers suggested that the syndrome is a recessive, inherited defect without sex linkage; Consanguinity was present in two of their patients; Occurs in the Amish group of Pennsylvania (5:1000)--[whonamedit_com 2005]-----

Ellis-Van Creveld Syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects-------[NORD 2005]-----------

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