Abnormality of the thumb

Symptom Information:

Symptom ID: HPO:0001172
Synonyms:
Abnormality of the thumbs [HPO:0001172]
Thumb deformity [HPO:0001172]
Thumb deformity [OMIM:Thumb deformity]
Quality:
Cross references:
OMIM: "Thumb deformity" [OMIM:Thumb deformity]
Is a (Direct Parents):
HPO         Abnormality of finger
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)
                   Abnormality of the upper limb(HPO:0002817)
                      Abnormality of the hand(HPO:0001155)
                         Abnormality of finger(HPO:0001167)
                            Abnormality of the thumb(HPO:0001172)
                   Abnormality of digit(HPO:0011297)
                      Abnormality of finger(HPO:0001167)
                         Abnormality of the thumb(HPO:0001172)
MedDRA:
Database Frequency: 103 / 7739
Resource:

All diseases associated with this symptom:

1q21.1 microdeletion syndrome (Orphanet:250989)
20p12.3 microdeletion syndrome (Orphanet:261295)
2q32q33 microdeletion syndrome (Orphanet:251019)
8p23.1 microdeletion syndrome (Orphanet:251071)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acro-oto-ocular syndrome (Orphanet:2980)
Acrocraniofacial dysostosis (Orphanet:949)
Acropectorovertebral dysplasia (Orphanet:957)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Apert syndrome (Orphanet:87)
Arthrogryposis multiplex congenita - whistling face (Orphanet:1150)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Bowed tibiae - radial anomalies - osteopenia - fractures (Orphanet:3331)
Brachydactyly - preaxial hallux varus (Orphanet:1278)
Brachydactyly type B (Orphanet:93383)
Brachydactyly-long thumb syndrome (Orphanet:2946)
Cataract - deafness - hypogonadism (Orphanet:1383)
Christianson syndrome (Orphanet:85278)
Cleft lip/palate - intestinal malrotation - cardiopathy (Orphanet:2001)
Cleidocranial dysplasia (Orphanet:1452)
Coloboma of macula - brachydactyly type B (Orphanet:1471)
Cooks syndrome (Orphanet:1487)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Curry-Jones syndrome (Orphanet:1553)
De Barsy syndrome (Orphanet:2962)
Digitotalar dysmorphism (Orphanet:1146)
Distal monosomy 17q (Orphanet:1597)
Dubowitz syndrome (Orphanet:235)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Emery-Nelson syndrome (Orphanet:1927)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
Fanconi anemia (Orphanet:84)
Fibular aplasia - complex brachydactyly (Orphanet:2639)
Floating-Harbor syndrome (Orphanet:2044)
Foix-Chavany-Marie syndrome (Orphanet:2048)
Galloway-Mowat syndrome (Orphanet:2065)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
Grix-Blankenship-Peterson syndrome (Orphanet:2099)
Hirschsprung disease (Orphanet:388)
Holt-Oram syndrome (Orphanet:392)
Humero-radio-ulnar synostosis (Orphanet:3266)
Hydrocephalus with stenosis of aqueduct of Sylvius (Orphanet:2182)
Hydrocephaly - tall stature - joint laxity (Orphanet:2181)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Hypertryptophanemia (Orphanet:2224)
Infantile spasms - broad thumbs (Orphanet:3173)
Intellectual deficit - athetosis - microphthalmia (Orphanet:1236)
Intellectual deficit, Wolff type (Orphanet:3080)
Keipert syndrome (Orphanet:2662)
Krabbe disease (Orphanet:487)
L1 syndrome (Orphanet:275543)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Leri pleonosteosis (Orphanet:2900)
Lethal chondrodysplasia, Moerman type (Orphanet:1420)
MASA syndrome (Orphanet:2466)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephaly - brachydactyly - kyphoscoliosis (Orphanet:3433)
Microlissencephaly - micromelia (Orphanet:50810)
Microphthalmia with limb anomalies (Orphanet:1106)
Morse-Rawnsley-Sargent syndrome (Orphanet:2570)
Mosaic trisomy 15 (Orphanet:1706)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multiple sulfatase deficiency (Orphanet:585)
Multiple synostoses syndrome (Orphanet:3237)
Nephrosis - deafness - urinary tract - digital malformations (Orphanet:2669)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculomaxillofacial dysostosis (Orphanet:1794)
Opsismodysplasia (Orphanet:2746)
Orofaciodigital syndrome type 10 (Orphanet:2756)
Otopalatodigital syndrome (Orphanet:669)
PHAVER syndrome (Orphanet:2876)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Pfeiffer syndrome (Orphanet:710)
Pfeiffer syndrome type 1 (Orphanet:93258)
Pfeiffer syndrome type 2 (Orphanet:93259)
Pfeiffer syndrome type 3 (Orphanet:93260)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Renpenning syndrome (Orphanet:3242)
Rubinstein-Taybi syndrome (Orphanet:783)
Sheldon-Hall syndrome (Orphanet:1147)
Sillence syndrome (Orphanet:3168)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
TRIGGER THUMB (OMIM:190410)
Thrombocytopenia - absent radius (Orphanet:3320)
Thumb stiffness - brachydactyly - intellectual deficit (Orphanet:1078)
Townes-Brocks syndrome (Orphanet:857)
Triphalangeal thumb - polysyndactyly syndrome (Orphanet:2950)
Ulna hypoplasia - intellectual deficit (Orphanet:2249)
Velo-facial-skeletal syndrome (Orphanet:3424)
Weaver syndrome (Orphanet:3447)
White matter hypoplasia - corpus callosum agenesis - intellectual deficit (Orphanet:3207)
Williams syndrome (Orphanet:904)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (Orphanet:324410)