| Descriptor English: | De Lange Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Cornelia de Lange
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| Descriptor Portuguese: | Síndrome de Cornélia de Lange | ||||||
| Descriptor French: | Syndrome de Cornelia de Lange | ||||||
| Entry term(s): |
Amstelodamensis, Typus Degenerativus Brachmann De Lange Syndrome Brachmann-De Lange Syndrome CdLS, X Linked CdLS, X-Linked CdLS2 CdLSs, X-Linked Cornelia De Lange Syndrome Cornelia de Lange Syndrome 1 Cornelia de Lange Syndrome 2 Cornelia de Lange Syndrome 3 Cornelia de Lange Syndrome, X Linked Cornelia de Lange Syndrome, X-Linked De Lange's Syndrome Syndrome, Brachmann-De Lange Typus Degenerativus Amstelodamensis X-Linked CdLS X-Linked CdLSs |
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| Tree number(s): |
C10.597.606.360.210 C16.131.077.272 C16.131.260.210 C16.320.180.210 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D003635 | ||||||
| Scope note: | A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2000; see DE LANGE'S SYNDROME 1966-1999 |
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| History Note: | 2000(1964) |
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| Related: |
Intellectual Disability
MeSH | ||||||
| DeCS ID: | 3652 | ||||||
| Unique ID: | D003635 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1966/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2019/05/17 |
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De Lange Syndrome
- Preferred
Cornelia de Lange Syndrome 2
- Narrower
Cornelia de Lange Syndrome 3
- Narrower
Cornelia de Lange Syndrome 1
- Narrower
| Concept UI |
M0005689 |
| Scope note | A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231) |
| Preferred term | De Lange Syndrome |
| Entry term(s) |
Amstelodamensis, Typus Degenerativus Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cornelia De Lange Syndrome De Lange's Syndrome Syndrome, Brachmann-De Lange Typus Degenerativus Amstelodamensis |
| Concept UI |
M0552970 |
| Preferred term | Cornelia de Lange Syndrome 2 |
| Entry term(s) |
CdLS, X Linked CdLS, X-Linked CdLS2 CdLSs, X-Linked Cornelia de Lange Syndrome, X Linked Cornelia de Lange Syndrome, X-Linked X-Linked CdLS X-Linked CdLSs |
| Concept UI |
M0530904 |
| Preferred term | Cornelia de Lange Syndrome 3 |
| Concept UI |
M000648998 |
| Preferred term | Cornelia de Lange Syndrome 1 |
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