Micromelia
Symptom Information:
Symptom ID: | HPO:0002983 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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) Aplasia/hypoplasia of the extremities(HPO:0009815) Limb undergrowth(HPO:0009826) Micromelia(HPO:0002983) Aplasia/hypoplasia involving the skeleton(HPO:0009115) 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) |
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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) |