Micromelia

Symptom Information:

Symptom ID: HPO:0002983
Synonyms:
Micromelia (disorder) [Orphanet:18080]
Micromelia [Orphanet:18080]
Micromelia [OMIM:Micromelia]
Short limbs/micromelia/brachymelia [Orphanet:18080]
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)]
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:0005753 "Limb shortening" [Orphanet:18080]
Orphanet:18080 "Short limbs/micromelia/brachymelia" [Orphanet:18080]
Orphanet:18400 "Amelia/tetramelia/hemimelia" [Orphanet:18400]
OMIM: "Micromelia" [OMIM:Micromelia]
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: "Micromelia (1 patient)" [OMIM:Micromelia (1 patient)]
OMIM: "Micromelia (especially lower limbs)" [OMIM:Micromelia (especially lower limbs)]
UMLS:C0025995 "Micromelia" [HPO:0002983]
UMLS:C0025995 "Micromelia" [Orphanet:18080]
UMLS:C0018987 "Hemimelia" [Orphanet:18400]
Is a (Direct Parents):
Orphanet Aplasia/hypoplasia of the extremities
HPO         Limb undergrowth
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)
                      Micromelia(HPO:0002983)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Aplasia/hypoplasia of the extremities(HPO:0009815)
                      Limb undergrowth(HPO:0009826)
                         Micromelia(HPO:0002983)
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)
          Micromelia(HPO:0002983)
Database Frequency: 130 / 7739
Resource:

All diseases associated with this symptom:

3M syndrome (Orphanet:2616)
4q21 microdeletion syndrome (Orphanet:238750)
Acheiropodia (Orphanet:931)
Achondrogenesis (Orphanet:932)
Achondrogenesis type 1A (Orphanet:93299)
Achondrogenesis type 1B (Orphanet:93298)
Achondrogenesis type 2 (Orphanet:93296)
Acrocapitofemoral dysplasia (Orphanet:63446)
Acrocephalopolydactyly (Orphanet:221054)
Acromesomelic dysplasia, Grebe type (Orphanet:2098)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Astley-Kendall dysplasia (Orphanet:85175)
Atelosteogenesis type II (Orphanet:56304)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Becker nevus syndrome (Orphanet:64755)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Brachyolmia type 1, Hobaek type (Orphanet:93301)
Brachyolmia type 1, Toledo type (Orphanet:93303)
C syndrome (Orphanet:1308)
CAMPTOMELIC SYNDROME, LONG-LIMB TYPE (OMIM:211990)
Campomelia, Cumming type (Orphanet:1318)
Cartilage-hair hypoplasia (Orphanet:175)
Cenani-Lenz syndrome (Orphanet:3258)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Chondrodysplasia punctata, tibial-metacarpal type (Orphanet:79346)
Chondrodysplasia, Blomstrand type (Orphanet:50945)
Congenital brain dysgenesis due to glutamine synthetase deficiency (Orphanet:71278)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
Cornelia de Lange syndrome (Orphanet:199)
Coxoauricular syndrome (Orphanet:1508)
Craniomicromelic syndrome (Orphanet:1524)
Craniosynostosis, Herrmann-Opitz type (Orphanet:2145)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Diabetic embryopathy (Orphanet:1926)
Diastrophic dwarfism (Orphanet:628)
Distal monosomy 17q (Orphanet:1597)
Dysostosis, Stanescu type (Orphanet:1798)
Dyssegmental dysplasia - glaucoma (Orphanet:1804)
Dyssegmental dysplasia, Rolland-Desbuquois type (Orphanet:156731)
Dyssegmental dysplasia, Silverman-Handmaker type (Orphanet:1865)
Ehlers-Danlos syndrome, dermatosparaxis type (Orphanet:1901)
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (Orphanet:1035)
Enchondromatosis (Orphanet:296)
Endocrine-cerebro-osteodysplasia syndrome (Orphanet:199332)
Epimetaphyseal skeletal dysplasia (Orphanet:1819)
Fetal varicella syndrome (Orphanet:291)
Fibrochondrogenesis (Orphanet:2021)
Fibular aplasia - complex brachydactyly (Orphanet:2639)
Geleophysic dysplasia (Orphanet:2623)
Greenberg dysplasia (Orphanet:1426)
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED (OMIM:241800)
Heart-hand syndrome type 2 (Orphanet:1350)
Hydrolethalus (Orphanet:2189)
Hypertrichosis cubiti - short stature (Orphanet:2220)
Hypochondroplasia (Orphanet:429)
IMAGe syndrome (Orphanet:85173)
Infantile hypophosphatasia (Orphanet:247651)
Jeune syndrome (Orphanet:474)
Kyphomelic dysplasia (Orphanet:1801)
Lethal chondrodysplasia, Moerman type (Orphanet:1420)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal recessive chondrodysplasia (Orphanet:1423)
Léri-Weill dyschondrosteosis (Orphanet:240)
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS (OMIM:250460)
MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM (OMIM:601016)
Madelung deformity (Orphanet:35688)
Mesomelia-synostoses syndrome (Orphanet:2496)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Metaphyseal chondrodysplasia, Kaitila type (Orphanet:166038)
Metaphyseal dysostosis - intellectual deficit - conductive deafness (Orphanet:2502)
Metatropic dysplasia (Orphanet:2635)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microlissencephaly - micromelia (Orphanet:50810)
Microspherophakia - metaphyseal dysplasia (Orphanet:2551)
Mosaic trisomy 9 (Orphanet:99776)
Multiple epiphyseal dysplasia (Orphanet:251)
Multiple epiphyseal dysplasia due to collagen 9 anomaly (Orphanet:166002)
Multiple epiphyseal dysplasia type 1 (Orphanet:93308)
Multiple epiphyseal dysplasia type 5 (Orphanet:93311)
Multiple osteochondromas (Orphanet:321)
Neu-Laxova syndrome (Orphanet:2671)
Neurogenic arthrogryposis multiplex congenita (Orphanet:1143)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Oculo-skeletal-renal syndrome (Orphanet:2716)
Ophthalmomandibulomelic dysplasia (Orphanet:2741)
Osteocraniostenosis (Orphanet:2763)
Osteogenesis imperfecta (Orphanet:666)
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA (OMIM:263210)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Peters-plus syndrome (Orphanet:709)
Phocomelia, Schinzel type (Orphanet:2879)
Platyspondylic dysplasia, Torrance type (Orphanet:85166)
Polyneuropathy - intellectual deficit - acromicria - premature menopause (Orphanet:2928)
Pseudoachondroplasia (Orphanet:750)
Pyknoachondrogenesis (Orphanet:3003)
Ruvalcaba syndrome (Orphanet:3121)
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
SHORT STATURE-OBESITY SYNDROME (OMIM:269870)
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Schneckenbecken dysplasia (Orphanet:3144)
Schwartz-Jampel syndrome (Orphanet:800)
Short rib-polydactyly syndrome (Orphanet:1505)
Short-rib thoracic dysplasia 6 with or without polydactyly (OMIM:263520)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Splenogonadal fusion - limb defects - micrognathia (Orphanet:2063)
Spondyloenchondrodysplasia (Orphanet:1855)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Spondyloepimetaphyseal dysplasia, Irapa type (Orphanet:93351)
Spondyloepimetaphyseal dysplasia, Shohat type (Orphanet:93352)
Spondyloepimetaphyseal dysplasia, matrilin-3 type (Orphanet:156728)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Spondyloepiphyseal dysplasia tarda (Orphanet:93284)
Spondyloepiphyseal dysplasia, Kimberley type (Orphanet:93283)
Spondylometaphyseal dysplasia, 'corner fracture' type (Orphanet:93315)
Spondylometaphyseal dysplasia, A4 type (Orphanet:168555)
Spondylometaphyseal dysplasia, Schmidt type (Orphanet:93316)
Spondyloperipheral dysplasia - short ulna (Orphanet:1856)
Stüve-Wiedemann syndrome (Orphanet:3206)
THANATOPHORIC DYSPLASIA, GLASGOW VARIANT (OMIM:273680)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Transverse limb deficiency - hemangioma (Orphanet:2486)