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Congenital Camptodactyly

Known as: Camptodactyly, camptodactylia, campylodactyly 
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active… Expand
National Institutes of Health

Related topics

Related topics

50 relations
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESISARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIAARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSYArthrogryposis and ectodermal dysplasia
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.
Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias… Expand
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2007
2007
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular… Expand
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Review
2006
Review
2006
Congenital contractural arachnodactyly (Beals syndrome)
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder… Expand
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2005
2005
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.
The Shprintzen-Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and… Expand
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2005
2005
Facial and physical features of Aicardi syndrome: infants to teenagers.
Aicardi syndrome is a sporadic disorder that affects primarily females and is hypothesized to be caused by heterozygous mutations… Expand
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2001
2001
Detection of superficial zone protein in human and animal body fluids by cross-species monoclonal antibodies specific to superficial zone protein.
In this report we describe the purification of human superficial zone protein (SZP), the generation of cross-species monoclonal… Expand
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Highly Cited
1999
Highly Cited
1999
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of… Expand
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1998
1998
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1.
OBJECTIVE To delineate the clinical features in patients with the autosomal recessive camptodactyly-arthropathy-coxa vara… Expand
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Highly Cited
1974
Highly Cited
1974
Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.
1. Kendall, N., and Woloshin, H.: Cephalhematoma associated with fracture of the skull, J. PEDIATR. 41: 125, 1952. 2. Rainaldi, V… Expand
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Highly Cited
1974
Highly Cited
1974
A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.
Two strikingly similar unrelated male children have the following pattern of anomalies: accelerated growth and osseous maturation… Expand
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