Arthrogryposis, Distal, Type 2a malady
Categories: Genetic diseases, Rare diseases, Fetal diseases, Muscle diseases, Ear diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Arthrogryposis, Distal, Type 2a:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Muscle diseases, Ear diseases
ICD10: 30 29
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 Freeman Sheldon syndrome is disorder present from birth (congenital) characterized by joint deformities (contractures) that restrict movement in the hands and feet and abnormalities of the head and face. The characteristic facial feature is a small mouth (microstomia) with pursed lips, giving the appearance of a whistling face. Other facial features may include a prominent forehead and brow ridges, a short nose and area between the nose and mouth, widely spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and a small tongue (microglossia) and jaw (micrognathia). Individuals with Freeman Sheldon syndrome often have speech problems and may also experience hearing loss. There is additionally an increased risk for individuals with this condition to develop a severe reaction to certain drugs used during surgery, called malignant hyperthermia. Freeman-Sheldon syndrome can be caused by mutations in the MYH3 gene, however not all individuals have a mutation within this gene. Some cases are inherited in an autosomal dominant manner, while others are inherited in an autosomal recessive manner, and still others occur randomly with no apparent cause (sporadically). Although there is no specific treatment or cure, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. Last updated: 10/7/2016
MalaCards based summary: Arthrogryposis, Distal, Type 2a, also known as freeman-sheldon syndrome, is related to arthrogryposis, distal, type 2b and arthrogryposis multiplex congenita, neurogenic type, and has symptoms including low-set, posteriorly rotated ears, depressed nasal ridge and congenital diaphragmatic hernia. An important gene associated with Arthrogryposis, Distal, Type 2a is MYH3 (Myosin Heavy Chain 3), and among its related pathways are Tight junction and Cytoskeleton remodeling_RalB regulation pathway. Affiliated tissues include eye, tongue and skin, and related mouse phenotype muscle.
Disease Ontology:11 A muscle tissue disease characterized by congenital joint contractures of hand and feet.
UniProtKB/Swiss-Prot:69 Arthrogryposis, distal, 2A: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and an H-shaped dimple of the chin.
Genetics Home Reference:25 Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." For this reason, the condition is sometimes called "whistling face syndrome."
OMIM:51 Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and... (193700) more...
Wikipedia:70 Arthrogryposis multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... more...
Human phenotypes related to Arthrogryposis, Distal, Type 2a:63 53 (show all 82)
UMLS symptoms related to Arthrogryposis, Distal, Type 2a:myalgia, muscle weakness, torticollis, muscle spasticity, muscle rigidity, muscle cramp, metatarsalgia, arthralgia, seizures, ulnar deviation of the wrist
Drugs for Arthrogryposis, Distal, Type 2a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Search NIH Clinical Center for Arthrogryposis, Distal, Type 2a
MalaCards organs/tissues related to Arthrogryposis, Distal, Type 2a:35
Eye, Tongue, Skin, Lung, Bone
UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 2a:69
Clinvar genetic disease variations for Arthrogryposis, Distal, Type 2a:5 (show all 18)
Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 2a.
Pathways related to Arthrogryposis, Distal, Type 2a according to GeneCards Suite gene sharing:
Cellular components related to Arthrogryposis, Distal, Type 2a according to GeneCards Suite gene sharing:
Biological processes related to Arthrogryposis, Distal, Type 2a according to GeneCards Suite gene sharing:
Molecular functions related to Arthrogryposis, Distal, Type 2a according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet