Arthrogryposis
Distal arthrogryposis mainly involves the hands and feet. Types of arthrogryposis with a primary neurological or muscle disease ... Arthrogryposis IUGR thoracic dystrophy, also known as Van Bervliet syndrome. Arthrogryposis-like disorder, also known as ... Arthrogryposis-like hand anomaly and sensorineural deafness at NIH's Office of Rare Diseases Arthrogryposis multiplex congenita ... Arthrogryposis multiplex congenita CNS calcification. Arthrogryposis multiplex congenita distal (AMCD), also known as X-linked ...
Arthrogryposis-renal dysfunction-cholestasis syndrome
Arthrogryposis-renal dysfunction-cholestasis syndrome is a cutaneous condition caused by a mutation in the VPS33B gene. Most of ... "Orphanet: Arthrogryposis renal dysfunction cholestasis syndrome". www.orpha.net. Retrieved 18 May 2019. Rapini, Ronald P.; ...
Lethal arthrogryposis with anterior horn cell disease
... (LAAHD) is an autosomal recessive genetic disorder characterized by ... "Lethal arthrogryposis with anterior horn cell disease". Hum Pathol. 26 (1): 12-19. doi:10.1016/0046-8177(95)90109-4. PMID ...
Amyoplasia
Arthrogryposis is derived from the Greek word meaning "with crooking of joints." It occurs in about one out of every 3,000 live ... It is the most common form of arthrogryposis. It is characterized by the four limbs being involved, and by the replacement of ... Bernstein, RM (2002). "Arthrogryposis and amyoplasia". The Journal of the American Academy of Orthopaedic Surgeons. 10 (6): 417 ... Jill M. Sells; Kenneth M. Jaffe; Judith G. Hall (1 February 1996). "Amyoplasia, the Most Common Type of Arthrogryposis: The ...
List of OMIM disorder codes
TNNI2 Arthrogryposis, distal, type 2A; 193700; MYH3 Arthrogryposis, distal, type 2B; 601680; MYH3 Arthrogryposis, distal, type ... SLC2A10 Arthrogryposis multiplex congenita, distal type 1; 108120; TPM2 Arthrogryposis multiplex congenita, distal type 2B; ... GLE1 Arthrogryposis, renal dysfunction, and cholestasis 1; 208085; VPS33B Arthrogryposis, renal dysfunction, and cholestasis 2 ... 2B; 601680; TPM2 Arthrogryposis, lethal, with anterior horn cell disease; 611890; ...
ERCC5
Mutations in ERCC5 cause arthrogryposis. XPG is a structure specific endonuclease that incises DNA at the 3' side of the ... "A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype ...
Lupinus caudatus
This condition is now more formally known as "lupine induced arthrogryposis" and its symptoms include flexure of the front leg ... "Crooked calf - lupine induced arthrogryposis". College of Veterinary Medicine. Washington State University. 2022. Retrieved 12 ...
Nicholas Taylor (tennis)
Taylor was born with arthrogryposis. He has a master's degree in sports management from the Wichita State University. He is ...
David Malone (swimmer)
He was born with arthrogryposis. His right leg was amputated below the knee when he was seven years old and his left leg ...
X-linked spinal muscular atrophy type 2
Spinal muscular atrophies Arthrogryposis Ramser, J.; Ahearn, M. E.; Lenski, C.; Yariz, K. O.; Hellebrand, H.; Von Rhein, M.; ... X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1 ... Arthrogryposis Multiple joint contractures Bone fractures (at birth and postnatal) Skull- Dysmorphic Skull Hands- Digital ... "A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human ...
Betty Q. Banker
Banker, B.Q. (1985). "Neuropathologic aspects of arthrogryposis multiplex congenita". Clinical Orthopaedics and Related ... including Duchenne muscular dystrophy and arthrogryposis, she also published on intracranial infections, dermatomyositis, ...
Wieacker syndrome
Affected males had severe arthrogryposis and muscle weakness in the pre- and postnatal periods, resulting in death within the ... 2013-05-02). "ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through ... Affected individuals presented with neonatal respiratory distress, arthrogryposis multiplex congenita, muscle weakness, and ... "Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex ...
Trismus pseudocamptodactyly syndrome
ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7". www.omim.org. (Articles with short description, Short description is different from ...
CASPR
May 2014). "Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects ... provided by RefSeq, Jan 2009]. Mutations in CNTNAP1 cause arthrogryposis multiplex congenita. Other diseases associated with ...
Freeman-Sheldon syndrome
Freeman-Sheldon syndrome is a type of distal arthrogryposis, related to distal arthrogryposis type 1 (DA1). In 1996, more ... Bamshad M, Jorde LB, Carey JC (November 1996). "A revised and extended classification of the distal arthrogryposes". Am. J. Med ... Freeman-Sheldon syndrome (FSS) is a very rare form of multiple congenital contracture (MCC) syndromes (arthrogryposes) and is ... published strict diagnostic criteria for distal arthrogryposis type 2A (DA2A) or Freeman-Sheldon syndrome. These included two ...
David Lega
Lega was born with the congenital disease arthrogryposis. He became a paralympic swimmer, competing in the Paralympic Games in ...
Patsy Pease
One was born with a rare disease, arthrogryposis. She knew she belonged caring for both her children instead of having someone ...
Nipun Malhotra (social entrepreneur)
He was born in Mumbai, Maharashtra, with arthrogryposis. In 2012, he started a disability rights advocacy organization based in ...
Bruck syndrome
The diagnosis of a neonate bears resemblance to arthrogryposis multiplex congenital, and later in childhood to osteogenesis ... Bruck syndrome is characterized as the combination of arthrogryposis multiplex congenita and osteogenesis imperfecta. Both ... 2009). "Bruck syndrome: osteogenesis imperfecta and arthrogryposis multiplex congenital". Annals of Tropical Paediatrics. 29 (2 ...
Sunaura Taylor
Taylor was born with arthrogryposis, and uses a wheelchair. She is active in the Society for Disability Studies and has ... People with arthrogryposis, American women painters, American artists with disabilities, 21st-century American women artists, ...
Damien Abad
Abad has arthrogryposis, a rare disease and physical disability. Many media outlets consider him the only or even the first ...
Clubfoot
Other abnormalities are associated 20% of the time, with the most common being distal arthrogryposis and myelomeningocele. The ... The most commonly associated conditions are distal arthrogryposis or myelomeningocele. The factors contributing to the ...
GPR126
June 2015). "Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita". American Journal of Human ... and Mutations have been shown to be responsible for severe arthrogryposis multiplex congenita GRCh38: Ensembl release 89: ...
Prudence Mabhena
... was born with Arthrogryposis, and was severely disabled. The society she was born into considers disabilities ... suffers from arthrogryposis) The band tried to overcome stereotypes and inspire the same people that once saw them as a curse. ... suffers from arthrogryposis) Tapiwa Nyengera - back-up singer, keyboard, front man (has spina bifida) Energy Maburutse - first ...
Les Autres sport classification
PROM includes people with joint disorders including arthrogryposis and thalidomide. Most of the included specific conditions ... 1 with Arthrogryposis, 3 with Osteogensis imperfect, and 1 with short stature. At the 1984 Games, Great Britain won the most ...
Congenital clasped thumb
Arthro gryposis: a clinical and pathological study of three cases. Pediatrics. 1956;17:532-40 Bianchine JW, lewis RC Jr. The ... Group III: The clasped thumb which is associated with arthrogryposis. Treatment of congenital clasped thumb includes two types ... Distal arthrogryposis MASA syndrome X-linked hydrocephalus Adducted thumb syndrome Waardenburg syndrome Whistling face syndrome ...
Adhesion G protein-coupled receptor
... as well as being responsible for severe arthrogryposis multiplex congenita. Gain of function mutations within the GAIN domain ... "Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita". American Journal of Human Genetics. 96 (6 ...
Disability sport classification
Competitors with multiple sclerosis, muscular dystrophy and arthrogryposis were not eligible for classification by CP-ISRA, but ... PROM includes people with joint disorders including arthrogryposis and thalidomide. Most of the included specific conditions ...
TPM2
Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A (Mar 2007). "Distal arthrogryposis and muscle weakness associated ... as well as distal arthrogryposis. The muscle weakness observed in these patients may be due to a change in mutated TPM2 ... "A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9". American Journal of Human Genetics ... "Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes". American Journal of Human ...
Phosphofructokinase deficiency
Infants with this deficiency often display floppy infant syndrome (hypotonia), arthrogryposis, encephalopathy and ... "Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet". The Journal of Pediatrics ...