All Fields
Computer Science
Medicine
FAQ
Contact
Sign in
Congenital Camptodactyly
Known as:
Camptodactyly
, camptodactylia
, campylodactyly
Â
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active…Â
(More)
National Institutes of Health
Topic mentions per year
Topic mentions per year
1947-2018
0
5
10
15
1947
2017
Related topics
Related topics
50 relations
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
Acquired Camptodactyly
(More)
Related mentions per year
Related mentions per year
1942-2018
1940
1960
1980
2000
2020
Congenital Camptodactyly
Congenital contractural arachnodactyly
Flexion contracture
Finger joint structure
Dyggve-Melchior-Clausen syndrome
Renpenning syndrome 1
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.
Periklis Makrythanasis
,
Samia Ali Temtamy
,
Mona S. Aglan
,
G A Otaify
,
Hanan A. Hamamy
,
Stylianos E. Antonarakis
Human mutation
2014
Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias…Â
(More)
Is this relevant?
2009
2009
Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers.
Dagmar Wieczorek
,
Oliver Bartsch
,
+6 authors
Eberhard Passarge
American journal of medical genetics. Part A
2009
The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA…Â
(More)
Is this relevant?
2006
2006
Camptodactyly as a spectrum of congenital deficiencies: a treatment algorithm based on clinical examination.
Guy Foucher
,
Patrick D Loréa
,
Roger Karl Khouri
,
Jose Medina
,
Giorgio Pivato
Plastic and reconstructive surgery
2006
BACKGROUND Camptodactyly is a frequent congenital hand disorder, but its cause and treatment remain a matter of controversy…Â
(More)
Is this relevant?
2004
2004
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
Nathalie Dagoneau
,
Déborah I. Scheffer
,
+17 authors
Valérie Cormier-Daire
American journal of human genetics
2004
Stuve-Wiedemann syndrome (SWS) is a severe autosomal recessive condition characterized by bowing of the long bones, with cortical…Â
(More)
Is this relevant?
Highly Cited
1999
Highly Cited
1999
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Jose Marcelino
,
John D. Carpten
,
+22 authors
Matthew L Warman
Nature Genetics
1999
Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of…Â
(More)
Is this relevant?
1998
1998
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1.
Sultan Abdullah Bahabri
,
Wafaa M. Suwairi
,
Rachel Laxer
,
Arkady Polinkovsky
,
Abdullah M Al Dalaan
,
M. L. Warman
Arthritis and rheumatism
1998
OBJECTIVE To delineate the clinical features in patients with the autosomal recessive camptodactyly-arthropathy-coxa vara…Â
(More)
Is this relevant?
1998
1998
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).
Paula Krakowiak
,
J. F. Bohnsack
,
J Christopher Carey
,
Michael J Bamshad
American journal of medical genetics
1998
We describe the clinical characteristics of a provisionally unique form of distal arthrogryposis. The anomalies observed in…Â
(More)
Is this relevant?
1983
1983
The pathology of the involved tendons in patients with familial arthropathy and congenital camptodactyly.
T. Ochi
,
Ryo Iwase
,
Nobuyuki Okabe
,
Careen Fink
,
K. Ono
Arthritis and rheumatism
1983
In 2 sisters with congenital camptodactyly and joint effusions, abnormalities in tendons were restricted to the portion within…Â
(More)
Is this relevant?
1974
1974
A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.
D. Weaver
,
Christopher Graham
,
Iason Thomas
,
D. W. Smith
The Journal of pediatrics
1974
Â
Is this relevant?
1974
1974
Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.
Sérgio D. Junho Pena
,
Mohamed Hossam Shokeir
The Journal of pediatrics
1974
Â
Is this relevant?