Fibular hypoplasia

Symptom Information:

Symptom ID: HPO:0003038
Synonyms:
Hypoplastic fibula [HPO:0003038]
Short fibula [HPO:0003038]
Short fibulae [HPO:0003038]
Fibula hypoplasia [Orphanet:21160]
Congenital hypoplasia of fibula [HPO:0003038]
Congenital hypoplasia of fibula (disorder) [Orphanet:21160]
Congenital hypoplasia of fibula [Orphanet:21160]
Fibular hypoplasia [OMIM:Fibular hypoplasia]
Hypoplastic fibula [OMIM:Hypoplastic fibula]
Short fibula [OMIM:Short fibula]
Short fibulae [OMIM:Short fibulae]
Fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly [Orphanet:21160]
Hypoplastic fibula (rare) [OMIM:Hypoplastic fibula (rare)]
Hypoplastic fibulae [OMIM:Hypoplastic fibulae]
Quality:
Cross references:
HPO:0006492 "Aplasia/Hypoplasia of the fibula" [Orphanet:21160]
Orphanet:21160 "Fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly" [Orphanet:21160]
OMIM: "Fibular hypoplasia" [OMIM:Fibular hypoplasia]
OMIM: "Hypoplastic fibula" [OMIM:Hypoplastic fibula]
OMIM: "Short fibula" [OMIM:Short fibula]
OMIM: "Short fibulae" [OMIM:Short fibulae]
OMIM: "Hypoplastic fibula (rare)" [OMIM:Hypoplastic fibula (rare)]
OMIM: "Hypoplastic fibulae" [OMIM:Hypoplastic fibulae]
UMLS:C0685428 "Congenital hypoplasia of fibula" [Orphanet:21160]
Is a (Direct Parents):
Orphanet Abnormality of the lower limb
Orphanet Fibular aplasia
HPO         Short long bone
HPO         Aplasia/Hypoplasia of the fibula
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 appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the fibula(HPO:0006492)
                            Fibular hypoplasia(HPO:0003038)
                   Abnormality of the lower limb(HPO:0002814)
                      Abnormality of the calf(HPO:0002981)
                         Abnormality of the fibula(HPO:0002991)
                            Aplasia/Hypoplasia of the fibula(HPO:0006492)
                               Fibular hypoplasia(HPO:0003038)
                      Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                         Aplasia/Hypoplasia of the fibula(HPO:0006492)
                            Fibular hypoplasia(HPO:0003038)
             Aplasia/hypoplasia involving the skeleton(HPO:0009115)
                Aplasia/hypoplasia of the extremities(HPO:0009815)
                   Aplasia/hypoplasia involving bones of the lower limbs(HPO:0006493)
                      Aplasia/Hypoplasia of the fibula(HPO:0006492)
                         Fibular hypoplasia(HPO:0003038)
             Abnormality of long bone morphology(HPO:0011314)
                Short long bone(HPO:0003026)
                   Fibular hypoplasia(HPO:0003038)
MedDRA:
Database Frequency: 30 / 7739
Resource:

All diseases associated with this symptom:

Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Acromesomelic dysplasia, Hunter-Thomson type (Orphanet:968)
Autosomal recessive omodysplasia (Orphanet:93329)
BRACHYMESOMELIA-RENAL SYNDROME (OMIM:113470)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Brachydactyly type A6 (Orphanet:93382)
CAMPOMELIC DYSPLASIA (OMIM:114290)
Campomelic dysplasia (Orphanet:140)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Cranioectodermal dysplasia (Orphanet:1515)
Cranioectodermal dysplasia 1 (OMIM:218330)
FIBROCHONDROGENESIS 1 (OMIM:228520)
Fibrochondrogenesis (Orphanet:2021)
Fibular aplasia - complex brachydactyly (Orphanet:2639)
Jeune syndrome (Orphanet:474)
Lethal chondrodysplasia, Seller type (Orphanet:1421)
Lethal faciocardiomelic dysplasia (Orphanet:1972)
Léri-Weill dyschondrosteosis (Orphanet:240)
Mesomelic dwarfism, Reinhardt-Pfeiffer type (Orphanet:2634)
Microphthalmia with limb anomalies (Orphanet:1106)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Ophthalmomandibulomelic dysplasia (Orphanet:2741)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Phocomelia - ectrodactyly - deafness - sinus arrhythmia (Orphanet:2878)
Richieri Costa-Pereira syndrome (Orphanet:3102)
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB (OMIM:615087)
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION (OMIM:612447)
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM:613091)
Ulnar/fibula ray defect - brachydactyly (Orphanet:52056)