Short thumb

Symptom Information:

Symptom ID: HPO:0009778
Synonyms:
Hypoplastic thumb [HPO:0009778]
Hypoplastic thumbs [HPO:0009778]
Hypoplastic/small thumb [HPO:0009778]
Short thumbs [HPO:0009778]
Small thumbs [HPO:0009778]
Thumb brachydactyly [HPO:0009778]
Thumb hypoplasia [HPO:0009778]
Hypoplastic thumb [OMIM:Hypoplastic thumb]
Hypoplastic thumbs [OMIM:Hypoplastic thumbs]
Short thumb [OMIM:Short thumb]
Short thumbs [OMIM:Short thumbs]
Small thumbs [OMIM:Small thumbs]
Thumb hypoplasia [OMIM:Thumb hypoplasia]
thumb brachydactyly [OMIM:thumb brachydactyly]
Hypoplastic thumb(s) [OMIM:Hypoplastic thumb(s)]
Hypoplastic thumbs (1 patient) [OMIM:Hypoplastic thumbs (1 patient)]
Quality:
Cross references:
OMIM: "Hypoplastic thumb" [OMIM:Hypoplastic thumb]
OMIM: "Hypoplastic thumbs" [OMIM:Hypoplastic thumbs]
OMIM: "Short thumb" [OMIM:Short thumb]
OMIM: "Short thumbs" [OMIM:Short thumbs]
OMIM: "Small thumbs" [OMIM:Small thumbs]
OMIM: "Thumb hypoplasia" [OMIM:Thumb hypoplasia]
OMIM: "thumb brachydactyly" [OMIM:thumb brachydactyly]
OMIM: "Hypoplastic thumb(s)" [OMIM:Hypoplastic thumb(s)]
OMIM: "Hypoplastic thumbs (1 patient)" [OMIM:Hypoplastic thumbs (1 patient)]
Is a (Direct Parents):
HPO         Short finger
HPO         Aplasia/Hypoplasia of the thumb
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 digit(HPO:0011297)
                      Abnormality of finger(HPO:0001167)
                         Abnormality of the thumb(HPO:0001172)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
                               Short thumb(HPO:0009778)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
                               Short thumb(HPO:0009778)
                            Short finger(HPO:0009381)
                               Short thumb(HPO:0009778)
                      Short digit(HPO:0011927)
                         Short finger(HPO:0009381)
                            Short thumb(HPO:0009778)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Short thumb(HPO:0009778)
                               Short finger(HPO:0009381)
                                  Short thumb(HPO:0009778)
                   Abnormality of the upper limb(HPO:0002817)
                      Abnormality of the hand(HPO:0001155)
                         Abnormality of finger(HPO:0001167)
                            Abnormality of the thumb(HPO:0001172)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Short thumb(HPO:0009778)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Short thumb(HPO:0009778)
                               Short finger(HPO:0009381)
                                  Short thumb(HPO:0009778)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Short thumb(HPO:0009778)
                               Short finger(HPO:0009381)
                                  Short thumb(HPO:0009778)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Short thumb(HPO:0009778)
                               Short finger(HPO:0009381)
                                  Short thumb(HPO:0009778)
             Aplasia/hypoplasia involving the skeleton(HPO:0009115)
                Aplasia/hypoplasia of the extremities(HPO:0009815)
                   Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                      Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
                               Short thumb(HPO:0009778)
                            Short finger(HPO:0009381)
                               Short thumb(HPO:0009778)
MedDRA:
Database Frequency: 50 / 7739
Resource:

All diseases associated with this symptom:

15q24 microdeletion syndrome (Orphanet:94065)
Acro-renal-ocular syndrome (Orphanet:959)
Acromesomelic dysplasia, Hunter-Thomson type (Orphanet:968)
Acropectorovertebral dysplasia (Orphanet:957)
Ballard syndrome (Orphanet:93395)
Blackfan-Diamond anemia (Orphanet:124)
Brachydactyly - preaxial hallux varus (Orphanet:1278)
Branchio-oculo-facial syndrome (Orphanet:1297)
CHARGE syndrome (Orphanet:138)
Congenital absence/hypoplasia of fingers excluding thumb (Orphanet:294990)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
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 E (OMIM:600901)
FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
FANCONI ANEMIA, COMPLEMENTATION GROUP O (OMIM:613390)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
FEINGOLD SYNDROME 2 (OMIM:614326)
Fanconi anemia (Orphanet:84)
Fibrodysplasia ossificans progressiva (Orphanet:337)
Fryns syndrome (Orphanet:2059)
Hand-foot-genital syndrome (Orphanet:2438)
Hirschsprung disease - type D brachydactyly (Orphanet:2150)
IVIC syndrome (Orphanet:2307)
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations (Orphanet:319462)
Kapur-Toriello syndrome (Orphanet:2328)
Keutel syndrome (Orphanet:85202)
Leri pleonosteosis (Orphanet:2900)
Lethal faciocardiomelic dysplasia (Orphanet:1972)
OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMALRECESSIVE (OMIM:258650)
Okihiro syndrome (Orphanet:93293)
Otopalatodigital syndrome (Orphanet:669)
Postaxial acrofacial dysostosis (Orphanet:246)
Pseudoaminopterin syndrome (Orphanet:221120)
Radial ray hypoplasia - choanal atresia (Orphanet:3026)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Rothmund-Thomson syndrome (Orphanet:2909)
SC PHOCOMELIA SYNDROME (OMIM:269000)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spondyloperipheral dysplasia - short ulna (Orphanet:1856)
Symphalangism with multiple anomalies of hands and feet (Orphanet:3246)
Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes (Orphanet:357332)
Thumb deformity - alopecia - pigmentation anomaly (Orphanet:2251)
Upper limb defect - eye and ear abnormalities (Orphanet:2489)
VACTERL/VATER association (Orphanet:887)
Velo-facial-skeletal syndrome (Orphanet:3424)
WT limb-blood syndrome (Orphanet:3466)
Wolf-Hirschhorn syndrome (Orphanet:280)