FAQ

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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1947-2018
05101519472017

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 PALSYAcquired Camptodactyly
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Related mentions per year

Related mentions per year

1942-2018
19401960198020002020
Congenital Camptodactyly
Congenital contractural arachnodactyly
Flexion contracture
Finger joint structure
Dyggve-Melchior-Clausen syndrome
Renpenning syndrome 1

Papers overview

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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… (More)
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2009
2009
Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers.
The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA… (More)
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2006
2006
Camptodactyly as a spectrum of congenital deficiencies: a treatment algorithm based on clinical examination.
BACKGROUND Camptodactyly is a frequent congenital hand disorder, but its cause and treatment remain a matter of controversy… (More)
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2004
2004
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
Stuve-Wiedemann syndrome (SWS) is a severe autosomal recessive condition characterized by bowing of the long bones, with cortical… (More)
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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… (More)
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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… (More)
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1998
1998
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).
We describe the clinical characteristics of a provisionally unique form of distal arthrogryposis. The anomalies observed in… (More)
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1983
1983
The pathology of the involved tendons in patients with familial arthropathy and congenital camptodactyly.
In 2 sisters with congenital camptodactyly and joint effusions, abnormalities in tendons were restricted to the portion within… (More)
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1974
1974
A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.
 
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1974
1974
Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.
 
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