Sprengel anomaly

Symptom Information:

Symptom ID: HPO:0000912
Synonyms:
Congenital, upward displacement of the scapula [HPO:0000912]
Sprengel deformity [HPO:0000912]
Congenital scapula elevation [Orphanet:19120]
Sprengel deformity [Orphanet:19120]
Sprengel anomaly [OMIM:Sprengel anomaly]
Sprengel deformity [OMIM:Sprengel deformity]
Scapula structural/position anomaly/congenital elevation/Sprengel anomaly [Orphanet:19120]
Congenital elevation of scapula [HPO:0000912]
Congenital elevation of scapula [Orphanet:19120]
Congenital elevation of scapula [MedDRA:10010455]
Congenital, upward displacement of the scapula (Sprengel deformity) [OMIM:Congenital, upward displacement of the scapula (Sprengel deformity)]
Sprengel anomaly (184400) [OMIM:Sprengel anomaly (184400)]
Sprengel anomaly (80%) [OMIM:Sprengel anomaly (80%)]
Sprengel deformity (females) [OMIM:Sprengel deformity (females)]
Scapula structural anomaly [Orphanet:19120]
Scapula position anomaly [Orphanet:19120]
Quality:
Cross references:
Orphanet:19120 "Scapula structural/position anomaly/congenital elevation/Sprengel anomaly" [Orphanet:19120]
OMIM: "Sprengel anomaly" [OMIM:Sprengel anomaly]
OMIM: "Sprengel deformity" [OMIM:Sprengel deformity]
OMIM: "Congenital, upward displacement of the scapula (Sprengel deformity)" [OMIM:Congenital, upward displacement of the scapula (Sprengel deformity)]
OMIM: "Sprengel anomaly (184400)" [OMIM:Sprengel anomaly (184400)]
OMIM: "Sprengel anomaly (80%)" [OMIM:Sprengel anomaly (80%)]
OMIM: "Sprengel deformity (females)" [OMIM:Sprengel deformity (females)]
UMLS:C0152438 "Sprengel deformity" [Orphanet:19120]
Is a (Direct Parents):
MedDRA Musculoskeletal and connective tissue disorders of trunk congenital (excl spine)
HPO         Abnormality of the scapula
Orphanet Upper limb segmental anomalies
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 axial skeleton morphology(HPO:0009121)
                Abnormality of the thorax(HPO:0000765)
                   Abnormality of the scapula(HPO:0000782)
                      Sprengel anomaly(HPO:0000912)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of trunk congenital (excl spine)(MedDRA:10028384)
          Sprengel anomaly(HPO:0000912)
Database Frequency: 51 / 7739
Resource:

All diseases associated with this symptom:

3M syndrome (Orphanet:2616)
Acro-pectoro-renal dysplasia (Orphanet:956)
Acro-renal-mandibular syndrome (Orphanet:958)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Acromesomelic dysplasia, Maroteaux type (Orphanet:40)
CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION (OMIM:601389)
CHILD syndrome (Orphanet:139)
Campomelic dysplasia (Orphanet:140)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Congenitally short costocoracoid ligament (Orphanet:2391)
Crane-Heise syndrome (Orphanet:1512)
Craniofrontonasal dysplasia (Orphanet:1520)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Diaphragmatic defect - limb deficiency - skull defect (Orphanet:2141)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Emery-Dreifuss muscular dystrophy (Orphanet:261)
Femoral-facial syndrome (Orphanet:1988)
Fibrochondrogenesis (Orphanet:2021)
Generalized resistance to thyroid hormone (Orphanet:3221)
Gorlin syndrome (Orphanet:377)
Grant syndrome (Orphanet:2097)
Holt-Oram syndrome (Orphanet:392)
Humerus trochlea aplasia (Orphanet:3383)
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly (Orphanet:2180)
Isolated Klippel-Feil syndrome (Orphanet:2345)
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
MURCS association (Orphanet:2578)
Mesomelic dysplasia, Savarirayan type (Orphanet:85170)
Nail-patella syndrome (Orphanet:2614)
Neuralgic amyotrophy (Orphanet:2901)
Noonan syndrome with multiple lentigines (Orphanet:500)
Otofaciocervical syndrome (Orphanet:2792)
Pelvis-shoulder dysplasia (Orphanet:2839)
Platyspondylic dysplasia, Torrance type (Orphanet:85166)
Poland syndrome (Orphanet:2911)
Renpenning syndrome (Orphanet:3242)
Schneckenbecken dysplasia (Orphanet:3144)
Schwartz-Jampel syndrome (Orphanet:800)
Shoulder and girdle defects - familial intellectual deficit (Orphanet:2580)
Shoulder and thorax deformity - congenital heart disease (Orphanet:1940)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Sprengel deformity (Orphanet:3181)
TMCO1 defect syndrome (Orphanet:228407)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Ulnar-mammary syndrome (Orphanet:3138)
Van den Bosch syndrome (Orphanet:3417)
Waardenburg syndrome type 1 (Orphanet:894)
White forelock with malformations (Orphanet:2475)