ORPHA:139021
Malformation syndrome with short stature
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Malformation syndrome with short stature | |
| fr | Syndrome malformatif avec petite taille | |
| de | Dysmorphie-Syndrom mit Kleinwuchs | |
| es | Síndrome malformativo con talla baja | |
| it | Sindromi dismorfiche con statura bassa | |
| nl | Malformatiesyndroom met kleine gestalte | |
| pt | Síndrome dismórfico com baixa estatura | |
| pl | Zespół malformacji z niskim wzrostem | |
| cs | Malformační syndromy s malým vzrůstem | |
| uk | Синдром мальформації з низьким зростом | |
| zh | 身材矮小畸形综合征 | |
| tr | Kısa boy ile seyreden malformasyon sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15329 | E | validated | |
| UMLS | C5680618 | E | validated | |
| GARD | 19902 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93890Rare developmental defect during embryogenesis
rare developmental anomalies during embryogenesis
Children (61):
- ORPHA:4562981p35.2 microdeletion syndrome
- ORPHA:26163M syndrome
- ORPHA:5084888q24.3 microdeletion syndrome
- ORPHA:915Aarskog-Scott syndrome
- ORPHA:694946Alazami-Yuan syndrome
- ORPHA:611216Aplastic anemia-intellectual disability-dwarfism syndrome
- ORPHA:1974Autosomal recessive faciodigitogenital syndrome
- ORPHA:141333Biemond syndrome type 2
- ORPHA:125Bloom syndrome
- ORPHA:1292Brachymorphism-onychodysplasia-dysphalangism syndrome
- ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- ORPHA:424099Colobomatous microphthalmia-rhizomelic dysplasia syndrome
- ORPHA:476406Congenital generalized hypercontractile muscle stiffness syndrome
- ORPHA:420794Cono-spondylar dysplasia
- ORPHA:199Cornelia de Lange syndrome
- ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
- ORPHA:572761DONSON-related microcephaly-short stature-limb abnormalities spectrum
- ORPHA:235Dubowitz syndrome
- ORPHA:1937Eng-Strom syndrome
- ORPHA:1964Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
- ORPHA:352712Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
- ORPHA:2044Floating-Harbor syndrome
- ORPHA:2108Hallermann-Streiff syndrome
- ORPHA:2183Hydrocephalus-obesity-hypogonadism syndrome
- ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- ORPHA:457365Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
- ORPHA:659702Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
- ORPHA:2315Johanson-Blizzard syndrome
- ORPHA:2332KBG syndrome
- ORPHA:633004KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
- ORPHA:2322Kabuki syndrome
- ORPHA:2333Kenny-Caffey syndrome
- ORPHA:99741King-Denborough syndrome
- ORPHA:664377MGP-related spondyloepiphyseal dysplasia
- ORPHA:592574Menke-Hennekam syndrome
- ORPHA:217026Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
- ORPHA:423306Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
- ORPHA:2576Mulibrey nanism
- ORPHA:98733Noonan syndrome and Noonan-related syndrome
- ORPHA:2714Oculo-palato-cerebral syndrome
- ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- ORPHA:580940QRICH1-related intellectual disability-chondrodysplasia syndrome
- ORPHA:686488RNU4-2-related autosomal dominant neurodevelopmental disorder
- ORPHA:659642Rauch-Steindl syndrome
- ORPHA:494439Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- ORPHA:97360Robinow syndrome
- ORPHA:783Rubinstein-Taybi syndrome
- ORPHA:3163SHORT syndrome
- ORPHA:397623Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
- ORPHA:391677Short stature-optic atrophy-Pelger-Huët anomaly syndrome
- ORPHA:589442Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
- ORPHA:813Silver-Russell syndrome
- ORPHA:818Smith-Lemli-Opitz syndrome
- ORPHA:611207Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
- ORPHA:3191Subaortic stenosis-short stature syndrome
- ORPHA:488618Transketolase deficiency
- ORPHA:902Werner syndrome
- ORPHA:904Williams syndrome
- ORPHA:431140X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
- ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- ORPHA:457240X-linked intellectual disability-short stature-overweight syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139021
- This record as JSON: /data/d/139021.json