Disease Information for Chondrodysplasia punctata/calcificans (Conradi)

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Clinical Manifestations
Signs & Symptoms
Midfacial hypoplasia/flat face dysmorphism
Prominent forehead/High forehead
Scaling/Skin finding
Thickened skin/diffuse
Short arms/legs
Mental Deficiency Child
Short Limbs Deformity
Skeletal problems/symptoms/signs
Snoring
Short stature
Short stature Child
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
Population/Female
Population/Infant
Diagnostic Test Results
X-RAY
Xray/Long bones abnormality/Skeletal
Xray/Long bones Stippled Epiphyses
Xray/Short Femur Deformity
Xray/Short Humerus deformity
Associated Diseases & Rule outs
Associated Disease & Complications
Cataract
Chondrodysplasia punctata
Chondrodystrophy
Congenital heart disease
Kyphoscoliosis
Mental retardation
Neonatal Erythroderma
Patent ductus arteriosis
Skeletal dysplasia
Valvular heart disease
Ventricular septal defect
Disease Mechanism & Classification
Class
CLASS/Cartilage involvement/disorder (ex)
CLASS/Skeletal (category)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Dystrophic disorder (ex)
PROCESS/X-Linked dominant inheritance (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
CDPX2, CDPXD, Chondrodys punct, X link domin, Chondrodyspl calcificans cong, Chondrodysplasia calcificans congenita, CHONDRODYSPLASIA PUNCTATA 2, X LINKED DOMINANT, Chondrodysplasia punctata, Conradi Hunermann type, Chondrodysplasia punctata, Conradi Hünermann type, Chondrodysplasia punctata, Conradi Hunermann type (disorder), Chondrodysplasia punctata, Conradi Hünermann type (disorder), Chondrodysplasia punctata, X linked dominant type, Chondrodysplasia punctata, X linked dominant type (disorder), Conradi, Conradi disease, Conradi Huenermann syndrome, CONRADI HUNERMANN HAPPLE SYNDROME, Conradi Hunermann Syndrome, Conradi Hünermann syndrome, Conradi's syndrome, CPXD, HAPPLE SYNDROME, Hunermann Conradi Syndrome, Syndrome, Conradi Hunermann, Syndrome, Hunermann Conradi, Synonym/Congenital chondrodystrophia calcificans, Synonym/Conradi-Hunermann syndrome, Synonym/Conradi's disease
Definition

Conradi Hunermann Syndrome; Chondrodysplasia Punctata, X-linked Dominant Type;Chondrodystrophia Calcificans Congenita; Conradi Disease; Dysplasia Epiphysialis Punctata; Conradi-Hunermann syndrome is a form of chondrodysplasia punctata, a group of rare, genetic disorders of skeletal development (skeletal dysplasias) characterized by unusual, "dotlike" (punctate) opacities representing abnormal accumulations of calcium salts (calcifications) within the growing ends of long bones (ie "stippled" epiphyses) and other regions; Conradi-Hunermann syndrome is commonly associated with mild to moderate growth deficiency; disproportionate shortening of long bones, particularly those of the upper arms (humeri) and the thigh bones (femora); short stature; and/or curvature of the spine; Many affected individuals also have a prominent forehead; unusually flattened midfacial regions (midfacial hypoplasia), with a low nasal bridge; loss of transparency of the lenses of the eyes (cataracts); sparse, coarse scalp hair; and/or abnormal thickening, dryness, and scaling of the skin; In rare cases, mild to moderate mental retardation may also be present; Evidence suggests that Conradi-Hunermann syndrome is usually inherited as an X-linked dominant trait that predominantly occurs in females; However, rare cases have also been reported in which males are affected---------------[NORD 2005]-----------------

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External Links Related to Chondrodysplasia punctata/calcificans (Conradi)
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PubMed (National Library of Medicine)
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Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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