Distal arthrogryposis

Symptom Information:

Symptom ID: HPO:0005684
Synonyms:
Arthrogryposis [Orphanet:18800]
Arthrogryposis (disorder) [Orphanet:18800]
Arthrogryposis (6%) [OMIM:Arthrogryposis (6%)]
Arthrogryposis (in some patients) [OMIM:Arthrogryposis (in some patients)]
Arthrogryposis (rare) [OMIM:Arthrogryposis (rare)]
Arthrogryposis (severe form) [OMIM:Arthrogryposis (severe form)]
Arthrogryposis, distal [OMIM:Arthrogryposis, distal]
Quality:
Cross references:
HPO:0001371 "Flexion contracture" [Orphanet:18800]
HPO:0002804 "Arthrogryposis multiplex congenita" [Orphanet:18800]
Orphanet:18800 "Arthrogryposis" [Orphanet:18800]
OMIM: "Arthrogryposis (6%)" [OMIM:Arthrogryposis (6%)]
OMIM: "Arthrogryposis (in some patients)" [OMIM:Arthrogryposis (in some patients)]
OMIM: "Arthrogryposis (rare)" [OMIM:Arthrogryposis (rare)]
OMIM: "Arthrogryposis (severe form)" [OMIM:Arthrogryposis (severe form)]
OMIM: "Arthrogryposis, distal" [OMIM:Arthrogryposis, distal]
UMLS:C0003886 "Arthrogryposis" [Orphanet:18800]
Is a (Direct Parents):
HPO         Congenital contracture
Orphanet Aplasia/hypoplasia of the extremities
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle morphology(HPO:0011805)
             Flexion contracture(HPO:0001371)
                Congenital contracture(HPO:0002803)
                   Distal arthrogryposis(HPO:0005684)
       Abnormality of connective tissue(HPO:0003549)
          Flexion contracture(HPO:0001371)
             Congenital contracture(HPO:0002803)
                Distal arthrogryposis(HPO:0005684)
       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)
                      Congenital contracture(HPO:0002803)
                         Distal arthrogryposis(HPO:0005684)
MedDRA:
Database Frequency: 31 / 7739
Resource:

All diseases associated with this symptom:

ARTHROGRYPOSIS, DISTAL, TYPE 1B (OMIM:614335)
ARTHROGRYPOSIS, DISTAL, TYPE 2E (OMIM:121070)
ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES (OMIM:208080)
ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTICFACIES (OMIM:208081)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Autosomal recessive limb-girdle muscular dystrophy type 2C (Orphanet:353)
Autosomal recessive limb-girdle muscular dystrophy type 2D (Orphanet:62)
Autosomal recessive limb-girdle muscular dystrophy type 2M (Orphanet:206554)
Buschke-Ollendorff syndrome (Orphanet:1306)
Carney complex-trismus-pseudocamptodactyly syndrome (Orphanet:319340)
Charcot-Marie-Tooth disease type 4J (Orphanet:139515)
Congenital contractural arachnodactyly (Orphanet:115)
Congenital muscular dystrophy type 1A (Orphanet:258)
Congenital myopathy with excess of thin filaments (Orphanet:98904)
Distal arthrogryposis type 10 (Orphanet:251515)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Fetal Gaucher disease (Orphanet:85212)
Gaucher disease (Orphanet:355)
Gaucher disease type 2 (Orphanet:77260)
Gordon syndrome (Orphanet:376)
Hypotonia-cerebral atrophy-hyperglycinemia syndrome (Orphanet:363424)
LETHAL CONGENITAL CONTRACTURE SYNDROME 4 (OMIM:614915)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
MELAS (Orphanet:550)
Moebius syndrome (Orphanet:570)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
NEMALINE MYOPATHY 2 (OMIM:256030)
Pontocerebellar hypoplasia type 8 (Orphanet:324569)
Sheldon-Hall syndrome (Orphanet:1147)
Trismus - pseudocamptodactyly (Orphanet:3377)