MSeqDR Mitochondrial Disease Portal


 
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expandcongenital entropion (MONDO:0020159)
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expanddermis elastic tissue disorder (MONDO:0019292)
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expandmalformation syndrome with skin/mucosae involvement (MONDO:0015331)
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expandrare developmental defect with connective tissue involvement (MONDO:0015332)
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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
..expandcutis laxa ()

       Child Nodes:
........expandacquired cutis laxa ()
........expandarterial tortuosity syndrome ()
........expandautosomal dominant cutis laxa ()
........expandautosomal recessive cutis laxa type 1 ()
........expandautosomal recessive cutis laxa type 2 ()
........expandcraniofaciofrontodigital syndrome ()
........expandcutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ()
........expandde Barsy syndrome ()
........expandgeroderma osteodysplastica ()
........expandoccipital horn syndrome ()
........expandRIN2 syndrome ()
........expandscarf syndrome ()



 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 ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:16175
Name:cutis laxa
Definition:Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.
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Synonyms:cutis laxa; elastolysis; generalized elastolysis; loose skin
Slim Mappings:
Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
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