De Lange Syndrome (Cornelia De Lange Syndrome)

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)
Also Known As:
Cornelia De Lange Syndrome; De Lange's Syndrome; Typus Degenerativus Amstelodamensis; Amstelodamensis, Typus Degenerativus; Brachmann De Lange Syndrome; Syndrome, Brachmann-De Lange; Syndrome, De Lange; Syndrome, De Lange's; Brachmann-De Lange Syndrome
Networked: 108 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1. Cri-du-Chat Syndrome (5p- Syndrome)
2. CHARGE Syndrome
3. Mental Retardation (Idiocy)
4. Sotos Syndrome
5. Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)


1. Deardorff, Matthew A: 10 articles (10/2015 - 03/2007)
2. Dorsett, Dale: 10 articles (06/2015 - 10/2004)
3. Krantz, Ian D: 9 articles (06/2015 - 03/2007)
4. Musio, Antonio: 7 articles (06/2015 - 03/2007)
5. Shirahige, Katsuhiko: 7 articles (06/2015 - 02/2008)
6. Calof, Anne L: 5 articles (06/2015 - 10/2011)
7. Mannini, Linda: 5 articles (01/2015 - 02/2009)
8. Itoh, Takehiko: 5 articles (09/2012 - 02/2008)
9. Kline, Antonie D: 4 articles (06/2015 - 03/2007)
10. Gerton, Jennifer L: 4 articles (06/2015 - 01/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to De Lange Syndrome:
1. Proteins (Proteins, Gene)IBA
2. chenodeoxycholate sulfate conjugate (CDCS)IBA
3. cohesins (cohesin)IBA
4. Roberts SyndromeIBA
5. Staphylococcal Protein A (A, Protein)IBA
6. Congenital diaphragmatic herniaIBA
7. Fryns syndromeIBA
09/23/1998 - "Syndromes diagnosed postnatally in 7 of 16 patients (44%) include: Fryns syndrome (2), Simpson-Golabi-Behmel syndrome (2), tetrasomy 12p (1), Brachmann-de Lange syndrome (1), and lethal multiple pterygium syndrome (1). "
01/01/2008 - "These included: chromosomal abnormalities (n = 21, 30.0%); non-chromosomal syndromes (Fryns syndrome, fetal alcohol syndrome, De Lange syndrome, CHARGE syndrome, Fraser syndrome, Goldenhar syndrome, Smith-Lemli-Opitz syndrome, multiple pterygium syndrome, Noonan syndrome, and spondylocostal dysostosis); malformation sequences (laterality sequence, ectopia cordis); malformation complexes (limb body wall complex) and non syndromic multiple congenital anomalies (MCA) (n = 30, 42.9%). "
06/01/2007 - "This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick-Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen-Goldberg omphalocele syndrome; lethal omphalocele-cleft palate syndrome; cerebro-costo-mandibular syndrome; fetal valproate syndrome; Marshall-Smith syndrome; fibrochondrogenesis; hydrolethalus syndrome; Fryns syndrome; omphalocele, diaphragmatic defects, radial anomalies and various internal malformations; diaphragmatic defects, limb deficiencies and ossification defects of skull; Donnai-Barrow syndrome; CHARGE syndrome; Goltz syndrome; Carpenter syndrome; Toriello-Carey syndrome; familial omphalocele; Cornelia de Lange syndrome; C syndrome; Elejalde syndrome; Malpuech syndrome; cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction; hydrocephalus with associated malformations; Kennerknecht syndrome; lymphedema, atrial septal defect and facial changes; and craniosynostosismental retardation syndrome of Lin and Gettig. "
8. Jarcho-Levin syndromeIBA
9. Cohen syndromeIBA
05/01/1993 - "We have studied 83 patients with a specific pattern of malformations (35 affected by the Sotos syndrome; 25 by the Williams syndrome; 9 by the Cohen syndrome; 8 by the Cornelia De Lange syndrome; 6 by the Rubinstein-Taybi syndrome) and have particularly investigated their cognitive and psychological profiles. "
01/01/2009 - "We have described the prevalence and the symptoms of systemic disorders associated with myopia, including: Stickler syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Weill-Marchesani syndrome, homocystinuria, McCune-Albright syndrome, Kniest syndrome, Down syndrome, Prader-Willi syndrome, Noonan syndrome, Cohen syndrome, Rubinstein-Taybi syndrome, Cornelia de Lange syndrome and fetal alcohol syndrome."
01/15/2005 - "This is the case of the following syndromes: Angelman syndrome, Prader-Willi syndrome, 15q11-q13 duplication, fragile X syndrome, fragile X premutation, deletion of chromosome 2q, XYY syndrome, Smith-Lemli-Opitz syndrome, Apert syndrome, mutations in the ARX gene, De Lange syndrome, Smith-Magenis syndrome, Williams syndrome, Rett syndrome, Noonan syndrome, Down syndrome, velo-cardio-facial syndrome, myotonic dystrophy, Steinert disease, tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert syndrome, Lujan-Fryns syndrome, Moebius syndrome, hypomelanosis of Ito, neurofibromatosis type 1, CHARGE syndrome and HEADD syndrome."
10. Pregnancy-Associated Plasma Protein-A (PAPP-A)IBA

Therapies and Procedures

1. General Anesthesia
2. Orchiopexy
3. Anesthesia
4. Airway Management
5. Catheters