Rhizomelia

Symptom Information:

Symptom ID: HPO:0008905
Synonyms:
Rhizomelic dwarfism [HPO:0008905]
Rhizomelic limb shortening [HPO:0008905]
Rhizomelic short limbs [HPO:0008905]
Rhizomelic short stature [HPO:0008905]
Short stature, rhizomelic [HPO:0008905]
Symmetrical rhizomelic limb shortening [HPO:0008905]
Rhizomelia [OMIM:Rhizomelia]
Rhizomelic dwarfism [OMIM:Rhizomelic dwarfism]
Rhizomelic limb shortening [OMIM:Rhizomelic limb shortening]
Rhizomelic short limbs [OMIM:Rhizomelic short limbs]
Rhizomelic short stature [OMIM:Rhizomelic short stature]
Short stature, rhizomelic [OMIM:Short stature, rhizomelic]
Symmetrical rhizomelic limb shortening [OMIM:Symmetrical rhizomelic limb shortening]
Rhizomelic limb shortening (35%) [OMIM:Rhizomelic limb shortening (35%)]
Rhizomelic limb shortening (especially arms) [OMIM:Rhizomelic limb shortening (especially arms)]
Rhizomelic limb shortening (infancy) [OMIM:Rhizomelic limb shortening (infancy)]
Quality:
Cross references:
OMIM: "Rhizomelia" [OMIM:Rhizomelia]
OMIM: "Rhizomelic dwarfism" [OMIM:Rhizomelic dwarfism]
OMIM: "Rhizomelic limb shortening" [OMIM:Rhizomelic limb shortening]
OMIM: "Rhizomelic short limbs" [OMIM:Rhizomelic short limbs]
OMIM: "Rhizomelic short stature" [OMIM:Rhizomelic short stature]
OMIM: "Short stature, rhizomelic" [OMIM:Short stature, rhizomelic]
OMIM: "Symmetrical rhizomelic limb shortening" [OMIM:Symmetrical rhizomelic limb shortening]
OMIM: "Rhizomelic limb shortening (35%)" [OMIM:Rhizomelic limb shortening (35%)]
OMIM: "Rhizomelic limb shortening (especially arms)" [OMIM:Rhizomelic limb shortening (especially arms)]
OMIM: "Rhizomelic limb shortening (infancy)" [OMIM:Rhizomelic limb shortening (infancy)]
Is a (Direct Parents):
HPO         Limb undergrowth
HPO         Disproportionate short-limb short stature
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Growth abnormality(HPO:0001507)
          Abnormality of body height(HPO:0000002)
             Short stature(HPO:0004322)
                Disproportionate short stature(HPO:0003498)
                   Disproportionate short-limb short stature(HPO:0008873)
                      Rhizomelia(HPO:0008905)
          Growth delay(HPO:0001510)
             Short stature(HPO:0004322)
                Disproportionate short stature(HPO:0003498)
                   Disproportionate short-limb short stature(HPO:0008873)
                      Rhizomelia(HPO:0008905)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Aplasia/hypoplasia involving the skeleton(HPO:0009115)
                Aplasia/hypoplasia of the extremities(HPO:0009815)
                   Limb undergrowth(HPO:0009826)
                      Rhizomelia(HPO:0008905)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Limb undergrowth(HPO:0009826)
                         Rhizomelia(HPO:0008905)
MedDRA:
Database Frequency: 85 / 7739
Resource:

All diseases associated with this symptom:

Absence deformity of leg - cataract (Orphanet:2310)
Achondroplasia (Orphanet:15)
Anauxetic dysplasia (Orphanet:93347)
Apert syndrome (Orphanet:87)
Atelosteogenesis type I (Orphanet:1190)
Atelosteogenesis type III (Orphanet:56305)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant omodysplasia (Orphanet:93328)
Autosomal recessive omodysplasia (Orphanet:93329)
Axial spondylometaphyseal dysplasia (Orphanet:168549)
BARATELA-SCOTT SYNDROME (OMIM:300881)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Boomerang dysplasia (Orphanet:1263)
Brachydactyly-long thumb syndrome (Orphanet:2946)
CHST3-related skeletal dysplasia (Orphanet:263463)
COG1-CDG (Orphanet:263508)
Cartilage-hair hypoplasia (Orphanet:175)
Cleidorhizomelic syndrome (Orphanet:1453)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Cranioectodermal dysplasia (Orphanet:1515)
Cranioectodermal dysplasia 1 (OMIM:218330)
Cranioectodermal dysplasia 2 (OMIM:613610)
DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Desmosterolosis (Orphanet:35107)
Diastrophic dwarfism (Orphanet:628)
Dyggve-Melchior-Clausen disease (Orphanet:239)
Ellis Van Creveld syndrome (Orphanet:289)
FIBROCHONDROGENESIS 1 (OMIM:228520)
Femoral-facial syndrome (Orphanet:1988)
Fibrochondrogenesis (Orphanet:2021)
Fibular aplasia - complex brachydactyly (Orphanet:2639)
Greenberg dysplasia (Orphanet:1426)
Hall-Riggs syndrome (Orphanet:2107)
Heart defects - limb shortening (Orphanet:1354)
Hypertrichosis cubiti - short stature (Orphanet:2220)
Kniest dysplasia (Orphanet:485)
Kyphomelic dysplasia (Orphanet:1801)
Langer mesomelic dysplasia (Orphanet:2632)
Lethal Kniest-like dysplasia (Orphanet:2347)
MICROPHTHALMIA, SYNDROMIC 14 (OMIM:615877)
Metaphyseal anadysplasia (Orphanet:1040)
Metaphyseal chondrodysplasia, Schmid type (Orphanet:174)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA,HYDROCEPHALUS, AND HYPERTENSION (OMIM:166990)
OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Omodysplasia (Orphanet:2733)
Opsismodysplasia (Orphanet:2746)
Osteoglophonic dwarfism (Orphanet:2645)
Pelviscapular dysplasia (Orphanet:93333)
Peters-plus syndrome (Orphanet:709)
Pseudodiastrophic dysplasia (Orphanet:85174)
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA (OMIM:610319)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Rhizomelic chondrodysplasia punctata type 3 (Orphanet:309803)
Rhizomelic dysplasia, Patterson-Lowry type (Orphanet:2831)
Rhizomelic syndrome, Urbach type (Orphanet:3098)
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES (OMIM:602471)
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL (OMIM:602613)
SPONASTRIME dysplasia (Orphanet:93357)
Satoyoshi syndrome (Orphanet:3130)
Short rib-polydactyly syndrome (Orphanet:1505)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Short-rib thoracic dysplasia 2 with or without polydactyly (OMIM:611263)
Short-rib thoracic dysplasia 5 with or without polydactyly (OMIM:614376)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spondyloenchondrodysplasia (Orphanet:1855)
Spondyloepimetaphyseal dysplasia - hypotrichosis (Orphanet:168443)
Spondyloepimetaphyseal dysplasia, Missouri type (Orphanet:93356)
Spondyloepimetaphyseal dysplasia, aggrecan type (Orphanet:171866)
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia (Orphanet:253)
Spondylometaphyseal dysplasia (Orphanet:254)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Tetrasomy 12p (Orphanet:884)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Thoracic dysplasia-hydrocephalus syndrome (Orphanet:1861)
Thoracomelic dysplasia (Orphanet:1803)
Verloove Vanhorick-Brubakk syndrome (Orphanet:3429)
Weissenbacher- Zweymuller syndrome (Orphanet:3450)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)