Camptodactyly

Symptom Information:

Symptom ID: HPO:0012385
Synonyms:
Camptodactyly [OMIM:Camptodactyly]
Camptodactyly (2nd-5th) [OMIM:Camptodactyly (2nd-5th)]
Camptodactyly (4th and 5th fingers) [OMIM:Camptodactyly (4th and 5th fingers)]
Camptodactyly (adult) [OMIM:Camptodactyly (adult)]
Camptodactyly (present at birth) [OMIM:Camptodactyly (present at birth)]
Camptodactyly (progressive) [OMIM:Camptodactyly (progressive)]
Camptodactyly. [OMIM:Camptodactyly.]
Quality:
Cross references:
OMIM: "Camptodactyly" [OMIM:Camptodactyly]
OMIM: "Camptodactyly (2nd-5th)" [OMIM:Camptodactyly (2nd-5th)]
OMIM: "Camptodactyly (4th and 5th fingers)" [OMIM:Camptodactyly (4th and 5th fingers)]
OMIM: "Camptodactyly (adult)" [OMIM:Camptodactyly (adult)]
OMIM: "Camptodactyly (present at birth)" [OMIM:Camptodactyly (present at birth)]
OMIM: "Camptodactyly (progressive)" [OMIM:Camptodactyly (progressive)]
OMIM: "Camptodactyly." [OMIM:Camptodactyly.]
Is a (Direct Parents):
HPO         Flexion contracture
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of connective tissue(HPO:0003549)
          Flexion contracture(HPO:0001371)
             Camptodactyly(HPO:0012385)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle morphology(HPO:0011805)
             Flexion contracture(HPO:0001371)
                Camptodactyly(HPO:0012385)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal joint morphology(HPO:0001367)
                Abnormality of joint mobility(HPO:0011729)
                   Flexion contracture(HPO:0001371)
                      Camptodactyly(HPO:0012385)
MedDRA:
Database Frequency: 113 / 7739
Resource:

All diseases associated with this symptom:

16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
16p13.3 microduplication syndrome (Orphanet:96078)
1p36 deletion syndrome (Orphanet:1606)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q32q33 microdeletion syndrome (Orphanet:251019)
8q21.11 microdeletion syndrome (Orphanet:284160)
8q22.1 microdeletion syndrome (Orphanet:178303)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
ARTHROGRYPOSIS, DISTAL, TYPE 1A (OMIM:108120)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Aneurysm - osteoarthritis syndrome (Orphanet:284984)
Antley-Bixler syndrome (Orphanet:83)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Autosomal dominant multiple pterygium syndrome (Orphanet:65743)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive spastic paraplegia type 20 (Orphanet:101000)
Blau syndrome (Orphanet:90340)
Bohring-Opitz syndrome (Orphanet:97297)
Brachydactyly type B (Orphanet:93383)
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III (OMIM:611929)
CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA (OMIM:211930)
CARPENTER SYNDROME 1 (OMIM:201000)
CARPENTER SYNDROME 2 (OMIM:614976)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
CATEL-MANZKE SYNDROME (OMIM:616145)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE (OMIM:214980)
CHST3-related skeletal dysplasia (Orphanet:263463)
COFS syndrome (Orphanet:1466)
COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY (OMIM:616266)
CORPUS CALLOSUM, AGENESIS OF (OMIM:217990)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Camptodactyly - tall stature - scoliosis - hearing loss (Orphanet:85164)
Camptodactyly of fingers (Orphanet:295016)
Carpenter syndrome (Orphanet:65759)
Catel-Manzke syndrome (Orphanet:1388)
Cold-induced sweating syndrome (Orphanet:157820)
Congenital contractural arachnodactyly (Orphanet:115)
Congenital lethal myopathy, Compton-North type (Orphanet:210163)
DPM1-CDG (Orphanet:79322)
DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Dermato-cardio-skeletal syndrome, Borrone type (Orphanet:1266)
Distal arthrogryposis type 5D (Orphanet:329457)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Dyggve-Melchior-Clausen disease (Orphanet:239)
Dyssegmental dysplasia, Rolland-Desbuquois type (Orphanet:156731)
EEM syndrome (Orphanet:1897)
Ear-patella-short stature syndrome (Orphanet:2554)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
FIBROCHONDROGENESIS 1 (OMIM:228520)
Faisalabad histiocytosis (Orphanet:254707)
Fetal Gaucher disease (Orphanet:85212)
Fibrochondrogenesis (Orphanet:2021)
Fine-Lubinsky syndrome (Orphanet:1272)
Freeman-Sheldon syndrome (Orphanet:2053)
Frontonasal dysplasia (Orphanet:250)
Fryns syndrome (Orphanet:2059)
Galloway-Mowat syndrome (Orphanet:2065)
Geroderma osteodysplastica (Orphanet:2078)
Goodman syndrome (Orphanet:65798)
Gordon syndrome (Orphanet:376)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
H syndrome (Orphanet:168569)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 (OMIM:616006)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
Hennekam syndrome (Orphanet:2136)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Joubert syndrome 18 (OMIM:614815)
Joubert syndrome 2 (OMIM:608091)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Limb-mammary syndrome (Orphanet:69085)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT (OMIM:608257)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM (OMIM:601016)
Marden-Walker syndrome (Orphanet:2461)
Miller-Dieker syndrome (Orphanet:531)
Moebius syndrome (Orphanet:570)
Myhre syndrome (Orphanet:2588)
Neu-Laxova syndrome (Orphanet:2671)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Pelviscapular dysplasia (Orphanet:93333)
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (Orphanet:254723)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Posterior column ataxia - retinitis pigmentosa (Orphanet:88628)
Recombinant 8 syndrome (Orphanet:96167)
Renpenning syndrome (Orphanet:3242)
Retroperitoneal fibrosis (Orphanet:49041)
Rosaï-Dorfman disease (Orphanet:158014)
STEVENSON-CAREY SYNDROME (OMIM:611961)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Sillence syndrome (Orphanet:3168)
Stüve-Wiedemann syndrome (Orphanet:3206)
Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes (Orphanet:357332)
Syndactyly type 5 (Orphanet:93406)
Syndromic multisystem autoimmune disease due to Itch deficiency (Orphanet:228426)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
Van den Ende-Gupta syndrome (Orphanet:2460)
W syndrome (Orphanet:2804)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
Weaver syndrome (Orphanet:3447)