Skeletal dysplasia

Symptom Information:

Symptom ID: HPO:0002652
Synonyms:
Osteochondrodysplasia [Orphanet:45210]
Osteochondrodysplasia syndrome (disorder) [Orphanet:45210]
Osteochondrodysplasia (disorder) [Orphanet:45210]
Congenital skeletal dysplasia (disorder) [Orphanet:45210]
Osteochondrodysplasias [Orphanet:45210]
Skeleton dysplasia [Orphanet:45210]
Skeletal dysplasia [Orphanet:45210]
Skeletal dysplasia [OMIM:Skeletal dysplasia]
Dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia [Orphanet:45210]
Skeletal dysplasia [MedDRA:10072610]
Skeleton dysplasia [MedDRA:10072610]
Osteodysplasty [MedDRA:10072610]
Melnick-Needles syndrome [MedDRA:10072610]
Bone dysplasia [MedDRA:10072610]
Bone dysplasia (in some patients) [OMIM:Bone dysplasia (in some patients)]
Osteochondrodysplasia [OMIM:Osteochondrodysplasia]
Osteodysplasia [Orphanet:45210]
Osteodysplasia (disorder) [Orphanet:45210]
Melnick-Needles syndrome (disorder) [Orphanet:45210]
Dyschondroplasia [MedDRA:10013891]
Chondrodysplasia [Orphanet:45210]
Chondrodysplasia (disorder) [Orphanet:45210]
Dyschondroplasias [Orphanet:45210]
Chondrodysplasia [OMIM:Chondrodysplasia]
Quality:
Cross references:
Orphanet:45210 "Dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia" [Orphanet:45210]
OMIM: "Skeletal dysplasia" [OMIM:Skeletal dysplasia]
OMIM: "Bone dysplasia (in some patients)" [OMIM:Bone dysplasia (in some patients)]
OMIM: "Osteochondrodysplasia" [OMIM:Osteochondrodysplasia]
OMIM: "Chondrodysplasia" [OMIM:Chondrodysplasia]
UMLS:C0029422 "Osteochondrodysplasias" [Orphanet:45210]
UMLS:C1096121 "Skeleton dysplasia" [Orphanet:45210]
UMLS:C0410528 "Skeletal dysplasia" [Orphanet:45210]
UMLS:C0410533 "Osteodysplasia" [Orphanet:45210]
UMLS:C0343284 "Chondrodysplasia" [Orphanet:45210]
UMLS:C0013366 "Dyschondroplasias" [Orphanet:45210]
Is a (Direct Parents):
Orphanet Dysostosis multiplex
MedDRA Non-site specific bone disorders congenital
Orphanet Abnormality of the skeletal system
HPO         Abnormality of skeletal morphology
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)
             Skeletal dysplasia(HPO:0002652)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Non-site specific bone disorders congenital(MedDRA:10029509)
          Skeletal dysplasia(HPO:0002652)
Database Frequency: 113 / 7739
Resource:

All diseases associated with this symptom:

12q14 microdeletion syndrome (Orphanet:94063)
Achondrogenesis (Orphanet:932)
Achondrogenesis type 1A (Orphanet:93299)
Achondrogenesis type 1B (Orphanet:93298)
Achondrogenesis type 2 (Orphanet:93296)
Achondroplasia (Orphanet:15)
Acrogeria (Orphanet:2500)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Acropectorovertebral dysplasia (Orphanet:957)
Albright hereditary osteodystrophy (Orphanet:665)
Alpha-mannosidosis (Orphanet:61)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Autosomal recessive Stickler syndrome (Orphanet:250984)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Baraitser-Winter syndrome (Orphanet:2995)
Beta-thalassemia major (Orphanet:231214)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Buschke-Ollendorff syndrome (Orphanet:1306)
CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA (OMIM:211930)
CINCA syndrome (Orphanet:1451)
Campomelia, Cumming type (Orphanet:1318)
Camurati-Engelmann disease (Orphanet:1328)
Cardiomyopathy-cataract-hip spine disease (Orphanet:1345)
Cartilage-hair hypoplasia (Orphanet:175)
Cerebro-facio-articular syndrome (Orphanet:314679)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Cleidocranial dysplasia (Orphanet:1452)
Cole-Carpenter syndrome (Orphanet:2050)
Craniometaphyseal dysplasia (Orphanet:1522)
Dyggve-Melchior-Clausen disease (Orphanet:239)
Dyschondrosteosis - nephritis (Orphanet:1765)
Dysostosis, Stanescu type (Orphanet:1798)
Dysplastic cortical hyperostosis (Orphanet:2204)
Dysspondyloenchondromatosis (Orphanet:85198)
Ehlers-Danlos syndrome, progeroid type (Orphanet:75496)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Eiken syndrome (Orphanet:79106)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Facial dysmorphism - immunodeficiency - livedo - short stature (Orphanet:352712)
Free sialic acid storage disease (Orphanet:834)
Fucosidosis (Orphanet:349)
GM1 gangliosidosis (Orphanet:354)
Galactosialidosis (Orphanet:351)
HYPOPHOSPHATEMIC BONE DISEASE (OMIM:146350)
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED (OMIM:241800)
Heart defects - limb shortening (Orphanet:1354)
Hirsutism - skeletal dysplasia - intellectual deficit (Orphanet:2156)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Hypertrichotic osteochondrodysplasia, Cantu type (Orphanet:1517)
Hypochondroplasia (Orphanet:429)
Hypotrichosis with juvenile macular degeneration (Orphanet:1573)
Isolated cloverleaf skull syndrome (Orphanet:2343)
Isolated osteopoikilosis (Orphanet:166119)
Jeune syndrome (Orphanet:474)
Kallmann syndrome (Orphanet:478)
Kniest dysplasia (Orphanet:485)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Lethal Kniest-like dysplasia (Orphanet:2347)
Linear verrucous nevus syndrome (Orphanet:2611)
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies (Orphanet:2234)
Mandibuloacral dysplasia (Orphanet:2457)
Marshall-Smith syndrome (Orphanet:561)
McCune-Albright syndrome (Orphanet:562)
Melorheostosis (Orphanet:2485)
Mesomelia-synostoses syndrome (Orphanet:2496)
Mesomelic dysplasia, Savarirayan type (Orphanet:85170)
Metatropic dysplasia (Orphanet:2635)
Microspherophakia - metaphyseal dysplasia (Orphanet:2551)
Mosaic trisomy 9 (Orphanet:99776)
Nager syndrome (Orphanet:245)
Nail-patella syndrome (Orphanet:2614)
Nasu-Hakola disease (Orphanet:2770)
Neurofibromatosis type 1 (Orphanet:636)
Osteocraniostenosis (Orphanet:2763)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Proteus syndrome (Orphanet:744)
Proteus-like syndrome (Orphanet:2969)
Pycnodysostosis (Orphanet:763)
Pyknoachondrogenesis (Orphanet:3003)
Pyle disease (Orphanet:3005)
RHYNS syndrome (Orphanet:140976)
Refsum disease (Orphanet:773)
SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION (OMIM:182255)
Sandhoff disease (Orphanet:796)
Schwartz-Jampel syndrome (Orphanet:800)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Sialidosis type 1 (Orphanet:812)
Sialidosis type 2 (Orphanet:87876)
Sjögren-Larsson syndrome (Orphanet:816)
Skeletal dysplasia - epilepsy - short stature (Orphanet:1858)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Spondyloepimetaphyseal dysplasia, Irapa type (Orphanet:93351)
Spondyloepimetaphyseal dysplasia, Missouri type (Orphanet:93356)
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia (Orphanet:253)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Spondyloepiphyseal dysplasia tarda (Orphanet:93284)
Spondyloepiphyseal dysplasia, Kimberley type (Orphanet:93283)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 1 (Orphanet:90653)
Stüve-Wiedemann syndrome (Orphanet:3206)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Treacher-Collins syndrome (Orphanet:861)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)