Broad metacarpals

Symptom Information:

Symptom ID: HPO:0001230
Synonyms:
Wide metacarpals [HPO:0001230]
Broad palm [Orphanet:20080]
Broad metacarpals [OMIM:Broad metacarpals]
Large hand [Orphanet:20080]
Large hands (1 patient) [OMIM:Large hands (1 patient)]
Large hands (46%) [OMIM:Large hands (46%)]
Large hands (in patients with PDGFRA mutations) [OMIM:Large hands (in patients with PDGFRA mutations)]
Quality:
Cross references:
HPO:0001169 "Broad palm" [Orphanet:20080]
HPO:0001176 "Large hands" [Orphanet:20080]
Orphanet:20080 "Large hand" [Orphanet:20080]
OMIM: "Broad metacarpals" [OMIM:Broad metacarpals]
OMIM: "Large hands (1 patient)" [OMIM:Large hands (1 patient)]
OMIM: "Large hands (46%)" [OMIM:Large hands (46%)]
OMIM: "Large hands (in patients with PDGFRA mutations)" [OMIM:Large hands (in patients with PDGFRA mutations)]
Is a (Direct Parents):
Orphanet Abnormality of the hand
HPO         Abnormal metacarpal morphology
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 the metacarpal bones(HPO:0001163)
                            Abnormal metacarpal morphology(HPO:0005916)
                               Broad metacarpals(HPO:0001230)
MedDRA:
Database Frequency: 17 / 7739
Resource:

All diseases associated with this symptom:

17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
5p13 microduplication syndrome (Orphanet:329802)
Acromesomelic dysplasia, Maroteaux type (Orphanet:40)
Berardinelli-Seip congenital lipodystrophy (Orphanet:528)
Carney complex (Orphanet:1359)
Gastrointestinal stromal tumor (Orphanet:44890)
Glaucoma - ectopia - microspherophakia - stiff joints - short stature (Orphanet:2084)
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Leprechaunism (Orphanet:508)
Leri pleonosteosis (Orphanet:2900)
Osteoglophonic dwarfism (Orphanet:2645)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
WEILL-MARCHESANI SYNDROME 1 (OMIM:277600)
Weill-Marchesani syndrome (Orphanet:3449)
X-linked spondyloepimetaphyseal dysplasia (Orphanet:93349)