Broad thumb

Symptom Information:

Symptom ID: HPO:0011304
Synonyms:
Broad phalanges of the thumb [HPO:0011304]
Broad thumbs [HPO:0011304]
Wide/broad thumb [HPO:0011304]
Wide/broad thumb phalanges [HPO:0011304]
Broad thumbs (finding) [Orphanet:20720]
Broad thumbs [Orphanet:20720]
Broad thumb [OMIM:Broad thumb]
Broad thumbs [OMIM:Broad thumbs]
Broad/bifid thumb [Orphanet:20720]
Broad thumbs (30%) [OMIM:Broad thumbs (30%)]
Broad thumbs (36%) [OMIM:Broad thumbs (36%)]
Broad thumbs (rare) [OMIM:Broad thumbs (rare)]
Quality:
Cross references:
Orphanet:20720 "Broad/bifid thumb" [Orphanet:20720]
OMIM: "Broad thumb" [OMIM:Broad thumb]
OMIM: "Broad thumbs" [OMIM:Broad thumbs]
OMIM: "Broad thumbs (30%)" [OMIM:Broad thumbs (30%)]
OMIM: "Broad thumbs (36%)" [OMIM:Broad thumbs (36%)]
OMIM: "Broad thumbs (rare)" [OMIM:Broad thumbs (rare)]
UMLS:C0426891 "Broad thumbs" [Orphanet:20720]
Is a (Direct Parents):
HPO         Abnormality of thumb phalanx
HPO         Broad phalanges of the hand
Orphanet Thumb anomalies (excluding hypoplasia)
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 thumb phalanx(HPO:0009602)
                                  Broad thumb(HPO:0011304)
                            Abnormality of phalanx of finger(HPO:0005918)
                               Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                                  Short phalanx of finger(HPO:0009803)
                                     Broad phalanx(HPO:0006009)
                                        Broad phalanges of the hand(HPO:0009768)
                                           Broad thumb(HPO:0011304)
                               Triangular shaped phalanges of the hand(HPO:0009774)
                                  Abnormality of thumb phalanx(HPO:0009602)
                                     Broad thumb(HPO:0011304)
                            Broad finger(HPO:0001500)
                               Broad phalanges of the hand(HPO:0009768)
                                  Broad thumb(HPO:0011304)
                   Abnormality of digit(HPO:0011297)
                      Abnormality of finger(HPO:0001167)
                         Abnormality of the thumb(HPO:0001172)
                            Abnormality of thumb phalanx(HPO:0009602)
                               Broad thumb(HPO:0011304)
                         Abnormality of phalanx of finger(HPO:0005918)
                            Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                               Short phalanx of finger(HPO:0009803)
                                  Broad phalanx(HPO:0006009)
                                     Broad phalanges of the hand(HPO:0009768)
                                        Broad thumb(HPO:0011304)
                            Triangular shaped phalanges of the hand(HPO:0009774)
                               Abnormality of thumb phalanx(HPO:0009602)
                                  Broad thumb(HPO:0011304)
                         Broad finger(HPO:0001500)
                            Broad phalanges of the hand(HPO:0009768)
                               Broad thumb(HPO:0011304)
MedDRA:
Database Frequency: 39 / 7739
Resource:

All diseases associated with this symptom:

17q12 microduplication syndrome (Orphanet:261272)
1q21.1 microdeletion syndrome (Orphanet:250989)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acropectorovertebral dysplasia (Orphanet:957)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant microcephaly (Orphanet:2514)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Ballard syndrome (Orphanet:93395)
Brachydactyly type B (Orphanet:93383)
CARPENTER SYNDROME 2 (OMIM:614976)
DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Keipert syndrome (Orphanet:2662)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Leri pleonosteosis (Orphanet:2900)
MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Multiple sulfatase deficiency (Orphanet:585)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Otopalatodigital syndrome (Orphanet:669)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Pfeiffer syndrome (Orphanet:710)
Postaxial polydactyly type A (Orphanet:93334)
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (Orphanet:353284)
Sakati-Nyhan syndrome (Orphanet:3128)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Spondyloepimetaphyseal dysplasia, aggrecan type (Orphanet:171866)
Spondyloperipheral dysplasia - short ulna (Orphanet:1856)
Stapes ankylosis with broad thumbs and toes (Orphanet:140917)
TEMPLE-BARAITSER SYNDROME (OMIM:611816)
Thrombocytopenia - absent radius (Orphanet:3320)
Townes-Brocks syndrome (Orphanet:857)
Weaver syndrome (Orphanet:3447)