Campomelic Dysplasia malady
Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Endocrine diseases, Fetal diseases, Cardiovascular diseases categories
Aliases & Descriptions for Campomelic Dysplasia:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Reproductive diseases, Bone diseases, Endocrine diseases, Cardiovascular diseases
Rare gynaecological and obstetric diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal
NIH Rare Diseases:42 Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. this condition is often life-threatening in the newborn period. affected individuals are typically born with bowing of the long bones in the legs and may also have bowing in the arms; short legs; dislocated hips; underdeveloped shoulder blades; bone abnormalities in the neck; feet that are abnormally rotated (club feet); external genitalia that do not look clearly male or clearly female (ambiguous genitalia); distinctive facial features (including a small chin, prominent eyes, flat face, a large head compared to their body size); a particular group of physical features, called pierre-robin sequence; and other abnormalities. it is caused by mutations in the sox9 gene and is inherited in an autosomal dominant pattern, although most cases result from a new mutation in the affected individual. treatment typically includes multiple surgeries to correct some of the above-mentioned abnormalities. when affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia. last updated: 12/29/2010
MalaCards based summary: Campomelic Dysplasia, also known as acampomelic campomelic dysplasia, is related to gonadal dysgenesis and hermaphroditism, and has symptoms including cleft palate, macrocephaly and malar flattening. An important gene associated with Campomelic Dysplasia is SOX9 (SRY (sex determining region Y)-box 9), and among its related pathways are Endochondral Ossification and Selected targets of ESR1. The compounds dmrt and deoxyribonucleic acid have been mentioned in the context of this disorder. Affiliated tissues include tibia or, bone and eye, and related mouse phenotype limbs/digits/tail.
Disease Ontology:8 An osteochondrodysplasia that has material basis in a mutation in chromosome 17 which results in bowing in the located in tibia or located in femur.
Genetics Home Reference:21 Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.
OMIM:46 Campomelic dysplasia is a disorder of the newborn characterized by congenital bowing and angulation of long bones,... (114290) more...
Wikipedia:64 Campomelic dysplasia (CMD) is a rare genetic disorder characterized by bowing of the long bones and many... more...
GeneReviews summary for campo-dysp
Symptoms by clinical synopsis from OMIM:114290
Clinical features from OMIM:114290
Symptoms:48 (show all 38)
HPO human phenotypes related to Campomelic Dysplasia:(show all 74)
MalaCards organs/tissues related to Campomelic Dysplasia:31
Bone, Eye, Heart, Lung, Olfactory bulb, Pancreas, Testis
FMA organs/tissues related to Campomelic Dysplasia:14
Articles related to Campomelic Dysplasia:(show top 50) (show all 105)
UniProtKB/Swiss-Prot genetic disease variations for Campomelic Dysplasia:63 (show all 16)
Clinvar genetic disease variations for Campomelic Dysplasia:5
Search GEO for disease gene expression data for Campomelic Dysplasia.
Pathways related to Campomelic Dysplasia according to GeneCards Suite gene sharing:
Cellular components related to Campomelic Dysplasia according to GeneCards Suite gene sharing:
Biological processes related to Campomelic Dysplasia according to GeneCards Suite gene sharing:(show all 31)
Molecular functions related to Campomelic Dysplasia according to GeneCards Suite gene sharing:
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet