Mesomelia

Symptom Information:

Symptom ID: HPO:0003027
Synonyms:
Mesomelic limb shortening [HPO:0003027]
Mesomelic shortening of limbs [HPO:0003027]
Symmetric mesomelic limb shortness [HPO:0003027]
Mesomelic micromelia [Orphanet:18240]
Mesomelia [Orphanet:18240]
Mesomelia [OMIM:Mesomelia]
Mesomelic limb shortening [OMIM:Mesomelic limb shortening]
Mesomelic shortening of limbs [OMIM:Mesomelic shortening of limbs]
Symmetric mesomelic limb shortness [OMIM:Symmetric mesomelic limb shortness]
Limb reduction defect [MedDRA:10024503]
Absence of limbs [MedDRA:10024503]
Absent limb [MedDRA:10024503]
Absent limbs [MedDRA:10024503]
Amelia [MedDRA:10024503]
Ectromelia [MedDRA:10024503]
Ectromelia four limbs [MedDRA:10024503]
Ectromelia one limb [MedDRA:10024503]
Ectromelia three limbs [MedDRA:10024503]
Ectromelia two limbs [MedDRA:10024503]
Hemimelia [MedDRA:10024503]
Limb reduction deformity [MedDRA:10024503]
Longitudinal def, tarsals or metatarsals, complete or partial (with or w/o incomp phalangeal def) [MedDRA:10024503]
Longitudinal deficiency of lower limb, not elsewhere classified [MedDRA:10024503]
Longitudinal deficiency of upper limb, not elsewhere classified [MedDRA:10024503]
Longitudinal deficiency, carp or metacarp, complete or partial (with or w/o incomp phalangeal def) [MedDRA:10024503]
Longitudinal deficiency, combined, involving femur, tibia, and fibula (complete or incomplete) [MedDRA:10024503]
Longitudinal deficiency, combined, involving humerus, radius, and ulna (complete or incomplete) [MedDRA:10024503]
Longitudinal deficiency, femoral, complete or partial (with or w/o distal deficiencies, incomplete) [MedDRA:10024503]
Longitudinal deficiency, fibular, complete or partial (with or w/o distal deficiencies, incomplete) [MedDRA:10024503]
Longitudinal deficiency, humeral, complete or partial (with or w/o distal deficiencies, incomplete) [MedDRA:10024503]
Longitudinal deficiency, phalanges of foot, complete or partial (with or w/o distal def, incomplete) [MedDRA:10024503]
Longitudinal deficiency, phalanges of hand, complete or partial (with or w/o distal def, incomplete) [MedDRA:10024503]
Longitudinal deficiency, radial, complete or partial (with or w/o distal deficiencies, incomplete) [MedDRA:10024503]
Longitudinal deficiency, radioulnar, complete or partial (with or w/o distal deficiencies, incomp) [MedDRA:10024503]
Longitudinal deficiency, tibia, complete or partial (with or w/o distal deficiencies, incomplete) [MedDRA:10024503]
Longitudinal deficiency, tibiofibular, complete or partial (with or w/o distal deficiencies, incomp) [MedDRA:10024503]
Longitudinal deficiency, ulnar, complete or partial (with or w/o distal deficiencies, incomplete) [MedDRA:10024503]
Mesomelia [MedDRA:10024503]
Micromelia [MedDRA:10024503]
Phocomelia [MedDRA:10024503]
Reduction deformities of lower limb, congenital [MedDRA:10024503]
Reduction deformities of upper limb, congenital [MedDRA:10024503]
Reduction deformities, unspecified limb, congenital [MedDRA:10024503]
Transverse deficiency of lower limb [MedDRA:10024503]
Transverse deficiency of upper limb [MedDRA:10024503]
Unspecified reduction deformity of lower limb, congenital [MedDRA:10024503]
Unspecified reduction deformity of upper limb, congenital [MedDRA:10024503]
Brachymelia [MedDRA:10024503]
Brachymelia [OMIM:Brachymelia]
Ectromelia [OMIM:Ectromelia]
Hemimelia [OMIM:Hemimelia]
Mesomelia (100%) [OMIM:Mesomelia (100%)]
Mesomelia (upper limbs) [OMIM:Mesomelia (upper limbs)]
Mesomelic limb shortening (80%) [OMIM:Mesomelic limb shortening (80%)]
Mesomelic limb shortening (lower limb greater than upper limb) [OMIM:Mesomelic limb shortening (lower limb greater than upper limb)]
Micromelia (1 patient) [OMIM:Micromelia (1 patient)]
Micromelia (especially lower limbs) [OMIM:Micromelia (especially lower limbs)]
Hemimelia [MedDRA:10019464]
Hemimelia (disorder) [Orphanet:18400]
Hemimelia [Orphanet:18400]
Amelia/tetramelia/hemimelia [Orphanet:18400]
Quality:
Cross references:
HPO:0005011 "Mesomelic arm shortening" [Orphanet:18240]
Orphanet:18240 "Mesomelic micromelia" [Orphanet:18240]
Orphanet:18400 "Amelia/tetramelia/hemimelia" [Orphanet:18400]
OMIM: "Mesomelia" [OMIM:Mesomelia]
OMIM: "Mesomelic limb shortening" [OMIM:Mesomelic limb shortening]
OMIM: "Mesomelic shortening of limbs" [OMIM:Mesomelic shortening of limbs]
OMIM: "Symmetric mesomelic limb shortness" [OMIM:Symmetric mesomelic limb shortness]
OMIM: "Brachymelia" [OMIM:Brachymelia]
OMIM: "Ectromelia" [OMIM:Ectromelia]
OMIM: "Hemimelia" [OMIM:Hemimelia]
OMIM: "Mesomelia (100%)" [OMIM:Mesomelia (100%)]
OMIM: "Mesomelia (upper limbs)" [OMIM:Mesomelia (upper limbs)]
OMIM: "Mesomelic limb shortening (80%)" [OMIM:Mesomelic limb shortening (80%)]
OMIM: "Mesomelic limb shortening (lower limb greater than upper limb)" [OMIM:Mesomelic limb shortening (lower limb greater than upper limb)]
OMIM: "Micromelia (1 patient)" [OMIM:Micromelia (1 patient)]
OMIM: "Micromelia (especially lower limbs)" [OMIM:Micromelia (especially lower limbs)]
UMLS:C0549306 "Mesomelia" [HPO:0003027]
UMLS:C0549306 "Mesomelia" [Orphanet:18240]
UMLS:C0018987 "Hemimelia" [Orphanet:18400]
Is a (Direct Parents):
HPO         Limb undergrowth
Orphanet Micromelia
Orphanet Aplasia/hypoplasia of the extremities
MedDRA Musculoskeletal and connective tissue disorders of limbs congenital
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)
                   Limb undergrowth(HPO:0009826)
                      Mesomelia(HPO:0003027)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Limb undergrowth(HPO:0009826)
                         Mesomelia(HPO:0003027)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of limbs congenital(MedDRA:10028381)
          Mesomelia(HPO:0003027)
Database Frequency: 58 / 7739
Resource:

All diseases associated with this symptom:

Acheiropodia (Orphanet:931)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acrodysostosis (Orphanet:950)
Acromesomelic dysplasia, Hunter-Thomson type (Orphanet:968)
Acromesomelic dysplasia, Maroteaux type (Orphanet:40)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive omodysplasia (Orphanet:93329)
Brachydactyly - mesomelia - intellectual deficit - heart defects (Orphanet:1277)
Brachydactyly type A6 (Orphanet:93382)
Cartilage-hair hypoplasia (Orphanet:175)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Dyschondrosteosis - nephritis (Orphanet:1765)
Femur-fibula-ulna complex (Orphanet:2019)
Fibrochondrogenesis (Orphanet:2021)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Goldblatt syndrome (Orphanet:166272)
Greenberg dysplasia (Orphanet:1426)
Hemimelia (Orphanet:2130)
Kniest dysplasia (Orphanet:485)
LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE (OMIM:601356)
Langer mesomelic dysplasia (Orphanet:2632)
Lethal Larsen-like syndrome (Orphanet:2371)
Léri-Weill dyschondrosteosis (Orphanet:240)
MESOMELIC DYSPLASIA, KANTAPUTRA TYPE (OMIM:156232)
Madelung deformity (Orphanet:35688)
Mesomelia-synostoses syndrome (Orphanet:2496)
Mesomelic dwarfism - cleft palate - camptodactyly (Orphanet:2631)
Mesomelic dwarfism, Nievergelt type (Orphanet:2633)
Mesomelic dwarfism, Reinhardt-Pfeiffer type (Orphanet:2634)
Mesomelic dysplasia, Kantaputra type (Orphanet:1836)
Mesomelic dysplasia, Savarirayan type (Orphanet:85170)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Mononen-Karnes-Senac syndrome (Orphanet:2565)
Mullerian duct anomalies - limb anomalies (Orphanet:2491)
Ophthalmomandibulomelic dysplasia (Orphanet:2741)
Orofaciodigital syndrome type 10 (Orphanet:2756)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA (OMIM:263210)
Pallister-Hall syndrome (Orphanet:672)
Pelviscapular dysplasia (Orphanet:93333)
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema (Orphanet:2252)
Radio-renal syndrome (Orphanet:3015)
Robinow-like syndrome (Orphanet:3105)
SPONASTRIME dysplasia (Orphanet:93357)
Schinzel-Giedion syndrome (Orphanet:798)
Schisis association (Orphanet:63862)
Short-rib thoracic dysplasia 2 with or without polydactyly (OMIM:611263)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Splenogonadal fusion - limb defects - micrognathia (Orphanet:2063)
Spondyloepimetaphyseal dysplasia, aggrecan type (Orphanet:171866)
Tetrasomy 12p (Orphanet:884)
Ulbright-Hodes syndrome (Orphanet:3404)
Ulna hypoplasia - intellectual deficit (Orphanet:2249)
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME (OMIM:602418)