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expanddysostosis of genetic origin with limb anomaly as a major feature (MONDO:0018455)
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expandeyebrow hypertrophy (MONDO:0020186)
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expandmalformation syndrome with short stature (MONDO:0015329)
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expandPierre Robin syndrome associated with bone disease (MONDO:0015322)
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expandrare disorder with ptosis (MONDO:0020169)
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expandsyndrome with a symptomatic strabismus (MONDO:0020253)
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expandsyndrome with limb reduction defects (MONDO:0017432)
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expandsyndromic diaphragmatic or abdominal wall malformation (MONDO:0015216)
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expandsyndromic diaphragmatic or thoracic malformation (MONDO:0015880)
..Starting node
..expandCornelia de Lange syndrome ()

       Child Nodes:
........expandCornelia de Lange syndrome 1 ()
........expandCornelia de Lange syndrome 2 ()
........expandCornelia de Lange syndrome 3 ()
........expandCornelia de Lange syndrome 4 ()
........expandCornelia de Lange syndrome 5 ()



 Sister Nodes: 
..expandCornelia de Lange syndrome ()
..expandcutis laxa ()
..expanddiaphragmatic defect-limb deficiency-skull defect syndrome ()
..expandDonnai-Barrow syndrome ()
..expandEhlers-Danlos syndrome due to tenascin-X deficiency ()
..expandEhlers-Danlos syndrome, classic type ()
..expandEmanuel syndrome ()
..expandKabuki syndrome ()
..expandlethal hydranencephaly-diaphragmatic hernia syndrome ()
..expandMatthew-wood syndrome ()
..expandomphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ()
..expandPAGOD syndrome ()
..expandpentalogy of Cantrell ()
..expandSimpson-Golabi-Behmel syndrome ()
..expandtetrasomy 12p ()
..expandWolf-Hirschhorn syndrome ()
   

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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:16033
Name:Cornelia de Lange syndrome
Definition:A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.
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Synonyms:Brachmann de Lange syndrome; Brachmann-de Lange syndrome; CDLS; De Lange syndrome
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Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
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