Short 1st metacarpal

Symptom Information:

Symptom ID: HPO:0010034
Synonyms:
First metacarpal hypoplasia [HPO:0010034]
First metacarpals hypoplastic [HPO:0010034]
Hypoplastic 1st metacarpal [HPO:0010034]
Short first metacarpal [HPO:0010034]
Short first metacarpals [HPO:0010034]
First metacarpal hypoplasia [OMIM:First metacarpal hypoplasia]
First metacarpals hypoplastic [OMIM:First metacarpals hypoplastic]
Short first metacarpal [OMIM:Short first metacarpal]
Short first metacarpals [OMIM:Short first metacarpals]
Hypoplastic first metacarpals [OMIM:Hypoplastic first metacarpals]
Quality:
Cross references:
OMIM: "First metacarpal hypoplasia" [OMIM:First metacarpal hypoplasia]
OMIM: "First metacarpals hypoplastic" [OMIM:First metacarpals hypoplastic]
OMIM: "Short first metacarpal" [OMIM:Short first metacarpal]
OMIM: "Short first metacarpals" [OMIM:Short first metacarpals]
OMIM: "Hypoplastic first metacarpals" [OMIM:Hypoplastic first metacarpals]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the 1st metacarpal
HPO         Short phalanx of the thumb
HPO         Short metacarpal
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)
             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 involving the metacarpal bones(HPO:0005914)
                            Short metacarpal(HPO:0010049)
                               Short 1st metacarpal(HPO:0010034)
                            Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                               Short 1st metacarpal(HPO:0010034)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Short finger(HPO:0009381)
                               Short thumb(HPO:0009778)
                                  Short phalanx of the thumb(HPO:0009660)
                                     Short 1st metacarpal(HPO:0010034)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
                               Short thumb(HPO:0009778)
                                  Short phalanx of the thumb(HPO:0009660)
                                     Short 1st metacarpal(HPO:0010034)
             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 upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia involving the metacarpal bones(HPO:0005914)
                               Short metacarpal(HPO:0010049)
                                  Short 1st metacarpal(HPO:0010034)
                               Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                  Short 1st metacarpal(HPO:0010034)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Short finger(HPO:0009381)
                                  Short thumb(HPO:0009778)
                                     Short phalanx of the thumb(HPO:0009660)
                                        Short 1st metacarpal(HPO:0010034)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Short thumb(HPO:0009778)
                                     Short phalanx of the thumb(HPO:0009660)
                                        Short 1st metacarpal(HPO:0010034)
                   Abnormality of the upper limb(HPO:0002817)
                      Aplasia/hypoplasia involving bones of the upper limbs(HPO:0006496)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia involving the metacarpal bones(HPO:0005914)
                               Short metacarpal(HPO:0010049)
                                  Short 1st metacarpal(HPO:0010034)
                               Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                  Short 1st metacarpal(HPO:0010034)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Short finger(HPO:0009381)
                                  Short thumb(HPO:0009778)
                                     Short phalanx of the thumb(HPO:0009660)
                                        Short 1st metacarpal(HPO:0010034)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Short thumb(HPO:0009778)
                                     Short phalanx of the thumb(HPO:0009660)
                                        Short 1st metacarpal(HPO:0010034)
                      Abnormality of the hand(HPO:0001155)
                         Abnormality of finger(HPO:0001167)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Short finger(HPO:0009381)
                                  Short thumb(HPO:0009778)
                                     Short phalanx of the thumb(HPO:0009660)
                                        Short 1st metacarpal(HPO:0010034)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Short thumb(HPO:0009778)
                                     Short phalanx of the thumb(HPO:0009660)
                                        Short 1st metacarpal(HPO:0010034)
                            Abnormality of the thumb(HPO:0001172)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Short thumb(HPO:0009778)
                                     Short phalanx of the thumb(HPO:0009660)
                                        Short 1st metacarpal(HPO:0010034)
                               Abnormality of thumb phalanx(HPO:0009602)
                                  Aplasia/Hypoplasia of the phalanges of the thumb(HPO:0009658)
                                     Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                        Short 1st metacarpal(HPO:0010034)
                                     Short phalanx of the thumb(HPO:0009660)
                                        Short 1st metacarpal(HPO:0010034)
                                  Abnormality of the 1st metacarpal(HPO:0010009)
                                     Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                        Short 1st metacarpal(HPO:0010034)
                            Abnormality of phalanx of finger(HPO:0005918)
                               Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                                  Aplasia/Hypoplasia of the phalanges of the thumb(HPO:0009658)
                                     Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                        Short 1st metacarpal(HPO:0010034)
                                     Short phalanx of the thumb(HPO:0009660)
                                        Short 1st metacarpal(HPO:0010034)
                               Triangular shaped phalanges of the hand(HPO:0009774)
                                  Abnormality of thumb phalanx(HPO:0009602)
                                     Aplasia/Hypoplasia of the phalanges of the thumb(HPO:0009658)
                                        Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                           Short 1st metacarpal(HPO:0010034)
                                        Short phalanx of the thumb(HPO:0009660)
                                           Short 1st metacarpal(HPO:0010034)
                                     Abnormality of the 1st metacarpal(HPO:0010009)
                                        Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                           Short 1st metacarpal(HPO:0010034)
                         Abnormality of the metacarpal bones(HPO:0001163)
                            Abnormality of the 1st metacarpal(HPO:0010009)
                               Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                  Short 1st metacarpal(HPO:0010034)
                            Abnormal metacarpal morphology(HPO:0005916)
                               Aplasia/Hypoplasia involving the metacarpal bones(HPO:0005914)
                                  Short metacarpal(HPO:0010049)
                                     Short 1st metacarpal(HPO:0010034)
                                  Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                     Short 1st metacarpal(HPO:0010034)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia involving the metacarpal bones(HPO:0005914)
                               Short metacarpal(HPO:0010049)
                                  Short 1st metacarpal(HPO:0010034)
                               Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                  Short 1st metacarpal(HPO:0010034)
                            Aplasia/Hypoplasia of fingers(HPO:0006265)
                               Short finger(HPO:0009381)
                                  Short thumb(HPO:0009778)
                                     Short phalanx of the thumb(HPO:0009660)
                                        Short 1st metacarpal(HPO:0010034)
                               Aplasia/Hypoplasia of the thumb(HPO:0009601)
                                  Short thumb(HPO:0009778)
                                     Short phalanx of the thumb(HPO:0009660)
                                        Short 1st metacarpal(HPO:0010034)
                   Abnormality of digit(HPO:0011297)
                      Short digit(HPO:0011927)
                         Short finger(HPO:0009381)
                            Short thumb(HPO:0009778)
                               Short phalanx of the thumb(HPO:0009660)
                                  Short 1st metacarpal(HPO:0010034)
                      Abnormality of finger(HPO:0001167)
                         Aplasia/Hypoplasia of fingers(HPO:0006265)
                            Short finger(HPO:0009381)
                               Short thumb(HPO:0009778)
                                  Short phalanx of the thumb(HPO:0009660)
                                     Short 1st metacarpal(HPO:0010034)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
                               Short thumb(HPO:0009778)
                                  Short phalanx of the thumb(HPO:0009660)
                                     Short 1st metacarpal(HPO:0010034)
                         Abnormality of the thumb(HPO:0001172)
                            Aplasia/Hypoplasia of the thumb(HPO:0009601)
                               Short thumb(HPO:0009778)
                                  Short phalanx of the thumb(HPO:0009660)
                                     Short 1st metacarpal(HPO:0010034)
                            Abnormality of thumb phalanx(HPO:0009602)
                               Aplasia/Hypoplasia of the phalanges of the thumb(HPO:0009658)
                                  Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                     Short 1st metacarpal(HPO:0010034)
                                  Short phalanx of the thumb(HPO:0009660)
                                     Short 1st metacarpal(HPO:0010034)
                               Abnormality of the 1st metacarpal(HPO:0010009)
                                  Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                     Short 1st metacarpal(HPO:0010034)
                         Abnormality of phalanx of finger(HPO:0005918)
                            Aplasia/Hypoplasia of the phalanges of the hand(HPO:0009767)
                               Aplasia/Hypoplasia of the phalanges of the thumb(HPO:0009658)
                                  Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                     Short 1st metacarpal(HPO:0010034)
                                  Short phalanx of the thumb(HPO:0009660)
                                     Short 1st metacarpal(HPO:0010034)
                            Triangular shaped phalanges of the hand(HPO:0009774)
                               Abnormality of thumb phalanx(HPO:0009602)
                                  Aplasia/Hypoplasia of the phalanges of the thumb(HPO:0009658)
                                     Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                        Short 1st metacarpal(HPO:0010034)
                                     Short phalanx of the thumb(HPO:0009660)
                                        Short 1st metacarpal(HPO:0010034)
                                  Abnormality of the 1st metacarpal(HPO:0010009)
                                     Aplasia/Hypoplasia of the 1st metacarpal(HPO:0010026)
                                        Short 1st metacarpal(HPO:0010034)
MedDRA:
Database Frequency: 19 / 7739
Resource:

All diseases associated with this symptom:

Acrocraniofacial dysostosis (Orphanet:949)
Autosomal dominant omodysplasia (Orphanet:93328)
Brachydactyly type B2 (Orphanet:140908)
Brachydactyly type C (Orphanet:93384)
DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Desbuquois syndrome (Orphanet:1425)
Fibrodysplasia ossificans progressiva (Orphanet:337)
Hand-foot-genital syndrome (Orphanet:2438)
IVIC syndrome (Orphanet:2307)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Mononen-Karnes-Senac syndrome (Orphanet:2565)
Odonto-tricho-ungual-digito-palmar syndrome (Orphanet:69082)
Omodysplasia (Orphanet:2733)
Primordial short stature - microdontia - opalescent and rootless teeth (Orphanet:46658)
SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION (OMIM:182255)
Schinzel-Giedion syndrome (Orphanet:798)
Sillence syndrome (Orphanet:3168)
TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)