Radioulnar synostosis

Symptom Information:

Symptom ID: HPO:0002974
Synonyms:
Fused forearm bones [HPO:0002974]
Radioulnar joint synostosis [Orphanet:19480]
Radioulnar synostosis (disorder) [Orphanet:19480]
Radioulnar synostosis [Orphanet:19480]
Radioulnar synostosis [OMIM:Radioulnar synostosis]
Radioulnar synostosis [MedDRA:10037798]
Radioulnar synostosis (in some patients) [OMIM:Radioulnar synostosis (in some patients)]
Radioulnar synostosis (rare) [OMIM:Radioulnar synostosis (rare)]
Radioulnar synostosis (reported in 1 patient) [OMIM:Radioulnar synostosis (reported in 1 patient)]
Quality:
Cross references:
HPO:0005037 "Proximal radio-ulnar synostosis" [Orphanet:19480]
Orphanet:19480 "Radioulnar synostosis" [Orphanet:19480]
OMIM: "Radioulnar synostosis" [OMIM:Radioulnar synostosis]
OMIM: "Radioulnar synostosis (in some patients)" [OMIM:Radioulnar synostosis (in some patients)]
OMIM: "Radioulnar synostosis (rare)" [OMIM:Radioulnar synostosis (rare)]
OMIM: "Radioulnar synostosis (reported in 1 patient)" [OMIM:Radioulnar synostosis (reported in 1 patient)]
UMLS:C0158761 "Radioulnar synostosis" [Orphanet:19480]
Is a (Direct Parents):
HPO         Abnormality of the radius
HPO         Synostosis involving bones of the upper limbs
HPO         Abnormality of the ulna
Orphanet Abnormality of the elbow
MedDRA Musculoskeletal and connective tissue disorders of limbs congenital
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal joint morphology(HPO:0001367)
                Abnormality of joint mobility(HPO:0011729)
                   Synostosis of joints(HPO:0100240)
                      Synostosis involving bones of the upper limbs(HPO:0100238)
                         Radioulnar synostosis(HPO:0002974)
                Abnormality of upper limb joint(HPO:0009810)
                   Synostosis involving bones of the upper limbs(HPO:0100238)
                      Radioulnar synostosis(HPO:0002974)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Abnormality of the upper limb(HPO:0002817)
                      Abnormality of upper limb joint(HPO:0009810)
                         Synostosis involving bones of the upper limbs(HPO:0100238)
                            Radioulnar synostosis(HPO:0002974)
                      Abnormality of the forearm(HPO:0002973)
                         Abnormality of the ulna(HPO:0002997)
                            Radioulnar synostosis(HPO:0002974)
                         Abnormality of the radius(HPO:0002818)
                            Radioulnar synostosis(HPO:0002974)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of limbs congenital(MedDRA:10028381)
          Radioulnar synostosis(HPO:0002974)
Database Frequency: 52 / 7739
Resource:

All diseases associated with this symptom:

3MC SYNDROME 1 (OMIM:257920)
3MC SYNDROME 2 (OMIM:265050)
48,XXXY syndrome (Orphanet:96263)
48,XXYY syndrome (Orphanet:10)
49,XXXXY syndrome (Orphanet:96264)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
ARMS, MALFORMATION OF (OMIM:107900)
Abruzzo-Erickson syndrome (Orphanet:921)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
Cenani-Lenz syndrome (Orphanet:3258)
Cornelia de Lange syndrome (Orphanet:199)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
Desbuquois syndrome (Orphanet:1425)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 (OMIM:130070)
Ehlers-Danlos syndrome, progeroid type (Orphanet:75496)
Eye defects - arachnodactyly - cardiopathy (Orphanet:2725)
Femoral-facial syndrome (Orphanet:1988)
Genitopatellar syndrome (Orphanet:85201)
Holt-Oram syndrome (Orphanet:392)
Humero-radio-ulnar synostosis (Orphanet:3266)
Hypoplastic tibiae - postaxial polydactyly (Orphanet:3332)
IVIC syndrome (Orphanet:2307)
Juberg-Hayward syndrome (Orphanet:2319)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Marden-Walker syndrome (Orphanet:2461)
Mesomelic dwarfism, Nievergelt type (Orphanet:2633)
Nager syndrome (Orphanet:245)
Noonan syndrome (Orphanet:648)
OSLAM syndrome (Orphanet:2760)
Oculofaciocardiodental syndrome (Orphanet:2712)
Ophthalmomandibulomelic dysplasia (Orphanet:2741)
PHAVER syndrome (Orphanet:2876)
Pentasomy X (Orphanet:11)
Phocomelia - ectrodactyly - deafness - sinus arrhythmia (Orphanet:2878)
Postaxial acrofacial dysostosis (Orphanet:246)
Progressive non-infectious anterior vertebral fusion (Orphanet:2062)
Proximal radioulnar synostosis (Orphanet:3269)
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia (Orphanet:71289)
Radio-ulnar synostosis - intellectual deficit - hypotonia (Orphanet:3270)
Roberts syndrome (Orphanet:3103)
Saethre-Chotzen syndrome (Orphanet:794)
Schinzel-Giedion syndrome (Orphanet:798)
Synostosis - microcephaly - scoliosis (Orphanet:3268)
Temtamy preaxial brachydactyly syndrome (Orphanet:363417)
Tetrasomy X (Orphanet:9)
VACTERL/VATER association (Orphanet:887)
WT limb-blood syndrome (Orphanet:3466)
Williams syndrome (Orphanet:904)
Wolf-Hirschhorn syndrome (Orphanet:280)