Short metacarpal

Symptom Information:

Symptom ID: HPO:0010049
Synonyms:
Hypoplastic metacarpal [HPO:0010049]
Metacarpal hypoplasia [HPO:0010049]
SHORT METACARPAL BONES [HPO:0010049]
Short metacarpals [HPO:0010049]
Shortened metacarpals [HPO:0010049]
Shortening of metacarpals [HPO:0010049]
Metacarpal hypoplasia [OMIM:Metacarpal hypoplasia]
Short metacarpal [OMIM:Short metacarpal]
Short metacarpal bones [OMIM:Short metacarpal bones]
Short metacarpals [OMIM:Short metacarpals]
Shortened metacarpals [OMIM:Shortened metacarpals]
short metacarpals [OMIM:short metacarpals]
Metacarpal anomalies/Archibald's sign [Orphanet:20180]
Hypoplastic metacarpals (4th and 5th) [OMIM:Hypoplastic metacarpals (4th and 5th)]
Metacarpal shortening [OMIM:Metacarpal shortening]
Short metacarpals (1 patient) [OMIM:Short metacarpals (1 patient)]
Short metacarpals (2nd, 3rd, 4th, 5th) [OMIM:Short metacarpals (2nd, 3rd, 4th, 5th)]
Short metacarpals (3rd-5th) [OMIM:Short metacarpals (3rd-5th)]
Short metacarpals (4th-5th) [OMIM:Short metacarpals (4th-5th)]
Short metacarpals (especially 4th and 5th) [OMIM:Short metacarpals (especially 4th and 5th)]
Short metacarpals (especially first metacarpal) [OMIM:Short metacarpals (especially first metacarpal)]
Short metacarpals (homozygote) [OMIM:Short metacarpals (homozygote)]
Quality:
Cross references:
HPO:0005720 "Shortening of all metacarpals" [Orphanet:20180]
Orphanet:20180 "Metacarpal anomalies/Archibald's sign" [Orphanet:20180]
OMIM: "Metacarpal hypoplasia" [OMIM:Metacarpal hypoplasia]
OMIM: "Short metacarpal" [OMIM:Short metacarpal]
OMIM: "Short metacarpal bones" [OMIM:Short metacarpal bones]
OMIM: "Short metacarpals" [OMIM:Short metacarpals]
OMIM: "Shortened metacarpals" [OMIM:Shortened metacarpals]
OMIM: "short metacarpals" [OMIM:short metacarpals]
OMIM: "Hypoplastic metacarpals (4th and 5th)" [OMIM:Hypoplastic metacarpals (4th and 5th)]
OMIM: "Metacarpal shortening" [OMIM:Metacarpal shortening]
OMIM: "Short metacarpals (1 patient)" [OMIM:Short metacarpals (1 patient)]
OMIM: "Short metacarpals (2nd, 3rd, 4th, 5th)" [OMIM:Short metacarpals (2nd, 3rd, 4th, 5th)]
OMIM: "Short metacarpals (3rd-5th)" [OMIM:Short metacarpals (3rd-5th)]
OMIM: "Short metacarpals (4th-5th)" [OMIM:Short metacarpals (4th-5th)]
OMIM: "Short metacarpals (especially 4th and 5th)" [OMIM:Short metacarpals (especially 4th and 5th)]
OMIM: "Short metacarpals (especially first metacarpal)" [OMIM:Short metacarpals (especially first metacarpal)]
OMIM: "Short metacarpals (homozygote)" [OMIM:Short metacarpals (homozygote)]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia involving the metacarpal bones
Orphanet Abnormality of the hand
Orphanet Shortening of all metacarpals
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)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   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)
                      Abnormality of the hand(HPO:0001155)
                         Aplasia/hypoplasia involving bones of the hand(HPO:0005927)
                            Aplasia/Hypoplasia involving the metacarpal bones(HPO:0005914)
                               Short metacarpal(HPO:0010049)
                         Abnormality of the metacarpal bones(HPO:0001163)
                            Abnormal metacarpal morphology(HPO:0005916)
                               Aplasia/Hypoplasia involving the metacarpal bones(HPO:0005914)
                                  Short metacarpal(HPO:0010049)
                   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)
MedDRA:
Database Frequency: 99 / 7739
Resource:

All diseases associated with this symptom:

2q37 microdeletion syndrome (Orphanet:1001)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acro-oto-ocular syndrome (Orphanet:2980)
Acrocapitofemoral dysplasia (Orphanet:63446)
Acrodysostosis with multiple hormone resistance (Orphanet:280651)
Acromesomelic dysplasia, Maroteaux type (Orphanet:40)
Acromicric dysplasia (Orphanet:969)
Albright hereditary osteodystrophy (Orphanet:665)
Atelosteogenesis type I (Orphanet:1190)
Autosomal dominant Larsen syndrome (Orphanet:503)
BRACHYDACTYLY, TYPE E1 (OMIM:113300)
BRACHYDACTYLY, TYPE E2 (OMIM:613382)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Brachydactyly - arterial hypertension (Orphanet:1276)
Brachydactyly - nystagmus - cerebellar ataxia (Orphanet:1246)
Brachydactyly - preaxial hallux varus (Orphanet:1278)
Brachydactyly type A1 (Orphanet:93388)
Brachydactyly type E (Orphanet:93387)
C syndrome (Orphanet:1308)
CHST3-related skeletal dysplasia (Orphanet:263463)
CODAS syndrome (Orphanet:1458)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Chondrodysplasia with joint dislocations, gPAPP type (Orphanet:280586)
Coffin-Lowry syndrome (Orphanet:192)
Cohen syndrome (Orphanet:193)
Combined immunodeficiency with facio-oculo-skeletal anomalies (Orphanet:221139)
Czech dysplasia, metatarsal type (Orphanet:137678)
DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED (OMIM:304950)
Dyggve-Melchior-Clausen disease (Orphanet:239)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (OMIM:615349)
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 (OMIM:600969)
EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
EXOSTOSES, MULTIPLE, TYPE II (OMIM:133701)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Fibular aplasia - complex brachydactyly (Orphanet:2639)
Focal dermal hypoplasia (Orphanet:2092)
Fuhrmann syndrome (Orphanet:2854)
Goldblatt syndrome (Orphanet:166272)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Kyphomelic dysplasia (Orphanet:1801)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Leri pleonosteosis (Orphanet:2900)
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Marinesco-Sjögren syndrome (Orphanet:559)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal chondrodysplasia - retinitis pigmentosa (Orphanet:166035)
Metaphyseal chondrodysplasia, Kaitila type (Orphanet:166038)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Monosomy 5p (Orphanet:281)
Multiple epiphyseal dysplasia type 1 (Orphanet:93308)
Multiple epiphyseal dysplasia type 4 (Orphanet:93307)
Multiple osteochondromas (Orphanet:321)
OSTEOGENESIS IMPERFECTA, TYPE VIII (OMIM:610915)
Oculoosteocutaneous syndrome (Orphanet:2713)
Osteoglophonic dwarfism (Orphanet:2645)
Otopalatodigital syndrome (Orphanet:669)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
PELGER-HUET ANOMALY (OMIM:169400)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Peters-plus syndrome (Orphanet:709)
Pseudoachondroplasia (Orphanet:750)
Pseudohypoparathyroidism type 1A (Orphanet:79443)
Pseudohypoparathyroidism type 1B (Orphanet:94089)
Pseudohypoparathyroidism type 1C (Orphanet:79444)
Pseudopseudohypoparathyroidism (Orphanet:79445)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Ruvalcaba syndrome (Orphanet:3121)
SATOYOSHI SYNDROME (OMIM:600705)
SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
SPLIT-HAND/FOOT MALFORMATION 2 (OMIM:313350)
SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL (OMIM:186400)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Short-rib thoracic dysplasia 2 with or without polydactyly (OMIM:611263)
Smith-McCort dysplasia (Orphanet:178355)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia, Irapa type (Orphanet:93351)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Spondyloperipheral dysplasia - short ulna (Orphanet:1856)
Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes (Orphanet:357332)
TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Tarsal-carpal coalition syndrome (Orphanet:1412)
Temtamy preaxial brachydactyly syndrome (Orphanet:363417)
Tricho-retino-dento-digital syndrome (Orphanet:1264)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
Ulbright-Hodes syndrome (Orphanet:3404)
X-linked spondyloepimetaphyseal dysplasia (Orphanet:93349)