Marshall-Smith Syndrome malady
Categories: Genetic diseases, Rare diseases, Fetal diseases, Bone diseases
Aliases & Descriptions for Marshall-Smith Syndrome:
Orphanet epidemiological data:51
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 Marshall-smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. less than 40 cases have been reported in the literature, mostly as single case reports or small series. early death is common due to respiratory complications. the cause of this disease remains unknown, but its sporadic occurrence suggests a de novo (new) dominant mutation. aggressive management of the early respiratory and feeding problems may improve survival in individuals affected by this condition. last updated: 1/15/2010
MalaCards based summary: Marshall-Smith Syndrome, also known as mrshss, is related to marinesco-sjogren syndrome and short-rib thoracic dysplasia 9 with or without polydactyly, and has symptoms including cognitive impairment, bowing of the long bones and accelerated skeletal maturation. An important gene associated with Marshall-Smith Syndrome is NFIX (Nuclear Factor I X). Affiliated tissues include bone, skin and cerebellum, and related mouse phenotypes are no phenotypic analysis and mortality/aging.
Disease Ontology:10 A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
OMIM:49 The Marshall-Smith syndrome is a malformation syndrome characterized by accelerated skeletal maturation, relative... (602535) more...
UniProtKB/Swiss-Prot:67 Marshall-Smith syndrome: A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis.
Symptoms by clinical synopsis from OMIM:602535
Clinical features from OMIM:602535
Symptoms:51 (show all 36)
HPO human phenotypes related to Marshall-Smith Syndrome:(show all 83)
MalaCards organs/tissues related to Marshall-Smith Syndrome:33
Bone, Skin, Cerebellum, Tongue, Lung, Breast, Colon
Articles related to Marshall-Smith Syndrome:(show top 38) (show all 39)
Clinvar genetic disease variations for Marshall-Smith Syndrome:5 (show all 11)
Search GEO for disease gene expression data for Marshall-Smith Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet