loading...| Preferred Name |
Cornelia de Lange syndrome |
|
| Synonyms |
Brachmann-de Lange syndrome |
|
| Definitions |
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_199 |
|
| alternative_term |
Brachmann-de Lange syndrome |
|
| definition |
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability, intrauterine growth restriction (IUGR) and/or postnatal growth restriction, feeding difficulties, abnormalities of the hands and feet (ranging from severe reductional limb abnormalities, oligodactyly, to brachymetacarpia of the first metacarpus). Variable visceral malformations may be present. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 |
|
| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Not applicable X-linked recessive Autosomal dominant |
|
| hasDbXref |
MeSH:D003635 OMIM:122470 ICD-10:Q87.1 UMLS:C0270972 OMIM:610759 OMIM:300882 OMIM:614701 MedDRA:10056354 OMIM:300590 ICD-11:LD2F.1Y |
|
| label |
Cornelia de Lange syndrome |
|
| notation |
ORPHA:199 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_180779 http://www.orpha.net/ORDO/Orphanet_183570 http://www.orpha.net/ORDO/Orphanet_139021 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_98578 http://www.orpha.net/ORDO/Orphanet_404574 http://www.orpha.net/ORDO/Orphanet_108979 |
|
| prefixIRI |
ORDO:Orphanet_199 |
|
| prefLabel |
Cornelia de Lange syndrome |
|
| present_in |
Denmark AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 1.24 AND has_birth_prevalence_range : 1-9 / 100 000 France AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_180779 http://www.orpha.net/ORDO/Orphanet_183570 http://www.orpha.net/ORDO/Orphanet_139021 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_98578 http://www.orpha.net/ORDO/Orphanet_404574 http://www.orpha.net/ORDO/Orphanet_108979 |
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| subClassOf |