Abnormality of the fibula

Symptom Information:

Symptom ID: HPO:0002991
Fibula anomaly [Orphanet:21160]
Congenital anomaly of fibula (disorder) [Orphanet:21160]
Congenital anomaly of fibula [Orphanet:21160]
Fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly [Orphanet:21160]
Cross references:
Orphanet:21160 "Fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly" [Orphanet:21160]
UMLS:C1290464 "Congenital anomaly of fibula" [Orphanet:21160]
Is a (Direct Parents):
HPO         Abnormality of the calf
Orphanet Fibular aplasia
Orphanet Abnormality of the lower limb
HPO         Serpentine fibula
Is a (Whole tree): HPO:
    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)
                   Abnormality of the lower limb(HPO:0002814)
                      Abnormality of the calf(HPO:0002981)
                         Abnormality of the fibula(HPO:0002991)
Database Frequency: 49 / 7739

All diseases associated with this symptom:

2q31.1 microdeletion syndrome (Orphanet:251014)
Absent tibia - polydactyly (Orphanet:988)
Absent tibia - polydactyly - arachnoid cyst (Orphanet:3328)
Acro-renal-mandibular syndrome (Orphanet:958)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Adamantinoma (Orphanet:55881)
Boomerang dysplasia (Orphanet:1263)
Campomelic dysplasia (Orphanet:140)
Cloacal exstrophy (Orphanet:93929)
Craniosynostosis - fibular aplasia (Orphanet:1533)
Diaphragmatic defect - limb deficiency - skull defect (Orphanet:2141)
Dysspondyloenchondromatosis (Orphanet:85198)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Femoral-facial syndrome (Orphanet:1988)
Fibular aplasia - ectrodactyly (Orphanet:1118)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Fuhrmann syndrome (Orphanet:2854)
Growth delay - hydrocephaly - lung hypoplasia (Orphanet:3035)
Hypoplastic tibiae - postaxial polydactyly (Orphanet:3332)
Jackson-Weiss syndrome (Orphanet:1540)
Langer mesomelic dysplasia (Orphanet:2632)
Lethal Larsen-like syndrome (Orphanet:2371)
Lethal faciocardiomelic dysplasia (Orphanet:1972)
Limb transversal defect - cardiac anomaly (Orphanet:2492)
Mesomelic dwarfism, Nievergelt type (Orphanet:2633)
Mesomelic dwarfism, Reinhardt-Pfeiffer type (Orphanet:2634)
Mesomelic dysplasia, Kantaputra type (Orphanet:1836)
Mesomelic dysplasia, Savarirayan type (Orphanet:85170)
Metaphyseal dysostosis - intellectual deficit - conductive deafness (Orphanet:2502)
Microphthalmia with limb anomalies (Orphanet:1106)
Mietens syndrome (Orphanet:2557)
Occipital horn syndrome (Orphanet:198)
Otopalatodigital syndrome type 2 (Orphanet:90652)
Pelvis-shoulder dysplasia (Orphanet:2839)
Phocomelia, Schinzel type (Orphanet:2879)
Schneckenbecken dysplasia (Orphanet:3144)
Severe achondroplasia - developmental delay - acanthosis nigricans (Orphanet:85165)
Short-limb skeletal dysplasia with severe combined immunodeficiency (Orphanet:935)
Splenogonadal fusion - limb defects - micrognathia (Orphanet:2063)
Thalidomide embryopathy (Orphanet:3312)
Thoracomelic dysplasia (Orphanet:1803)
Thrombocytopenia - absent radius (Orphanet:3320)
Tibial aplasia - ectrodactyly (Orphanet:3329)
Ulbright-Hodes syndrome (Orphanet:3404)
Ulna metaphyseal dysplasia syndrome (Orphanet:1837)
Ulnar/fibula ray defect - brachydactyly (Orphanet:52056)
Weismann-Netter syndrome (Orphanet:3344)