{"Name":"Cutis laxa","DiseaseID__c":"GARD:0006227","id":6227,"encodedName":"cutis-laxa","IsDeleted":false,"Disease_Name_Full__c":"Cutis laxa","Xref_IDs__c":"58588007; C0010495; C84663; D003483; DOID:3144; HP:0000973; MEDGEN:8206; MONDO:0016175; ORPHA:209","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016175","Disease_Description__c":"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.","GARD_Name__c":"Cutis laxa","GARD_Synonym__c":"chalazoderma; chalazodermia; cutaneous laxity; dermatochalasia; dermatolysis; dermatomegaly; elastolysis; generalised elastolysis; generalized elastolysis; hanging skin; hypoelastic skin; inelastic skin; lax skin; loose and inelastic skin; loose skin; primary elastolysis; skin laxity","Curated_Disease_Description_Source__c":"GARD:0006227","Curated_Disease_Description__c":"Cutis laxa is a disorder of connective tissue, which is the tissue that provides structure and strength to the muscles, joints, organs, and skin. Most cases are inherited, but some are acquired, which means they do not appear to be caused by genetic variations. While signs and symptoms of inherited cutis laxa are often noticeable in infancy or childhood, acquired cutis laxa typically appears later in life. This summary primarily describes inherited forms of cutis laxa.   The term 'cutis laxa' is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy or wrinkled appearance. Extremely wrinkled skin may be particularly noticeable on the neck and in the armpits and groin. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, intestines, and lungs. The disorder can cause heart problems and abnormal narrowing, bulging, or tearing of critical blood vessels. Affected individuals may have soft out-pouchings in the lower abdomen (inguinal  hernia) or around the belly button (umbilical hernia). Sacs called diverticula can also develop in the walls of certain organs, such as the bladder and intestines. During childhood, some people with cutis laxa develop a life-long lung disease called emphysema, which can make it difficult to breathe. Depending on which organs and tissues are affected, the signs and symptoms of cutis laxa can range from mild to life-threatening. Researchers have described several different forms of cutis laxa. The forms are often distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant forms, although some people with autosomal dominant cutis laxa are severely affected. In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone abnormalities. The X-linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels in the body. In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose joints. Other rare conditions, including arterial tortuosity syndrome, geroderma osteodysplastica, and RIN2 syndrome, are sometimes classified as cutis laxa-related conditions, because affected individuals can have loose, sagging skin. These conditions each have a particular pattern of signs and symptoms affecting different tissues and body systems.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:209","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016175","ORPHANET_ID__c":"ORPHA:209","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cutis laxa","Spanish_Description_Source__c":"ORPHA:209","Spanish_Description__c":"La cutis laxa (CL) es una afectación hereditaria o adquirida del tejido conectivo. Se caracteriza por una piel arrugada, abundante y flácida, que ha perdido su elasticidad, y se asocia con anomalías esqueléticas o del desarrollo y, en algunos casos, con una afectación sistémica grave. Se han descrito numerosas variantes de CL, qu se diferencian según el modo de transmisión hereditario, la extensión de la afectación visceral, las anomalías asociadas y la gravedad de la enfermedad.","Spanish_Disease_Name__c":"cutis laxa","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Cutis laxa is a disorder of connective tissue, which is the tissue that provides structure and strength to the muscles, joints, organs, and skin. Most cases are inherited, but some are acquired, which means they do not appear to be caused by genetic variations. While signs and symptoms of inherited cutis laxa are often noticeable in infancy or childhood, acquired cutis laxa typically appears later in life. This summary primarily describes inherited forms of cutis laxa.   The term 'cutis laxa' is Latin for loose or lax skin, and this condition is characterized by skin that is sagging and not stretchy (inelastic). The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy or wrinkled appearance. Extremely wrinkled skin may be particularly noticeable on the neck and in the armpits and groin. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, intestines, and lungs. The disorder can cause heart problems and abnormal narrowing, bulging, or tearing of critical blood vessels. Affected individuals may have soft out-pouchings in the lower abdomen (inguinal  hernia) or around the belly button (umbilical hernia). Sacs called diverticula can also develop in the walls of certain organs, such as the bladder and intestines. During childhood, some people with cutis laxa develop a life-long lung disease called emphysema, which can make it difficult to breathe. Depending on which organs and tissues are affected, the signs and symptoms of cutis laxa can range from mild to life-threatening. Researchers have described several different forms of cutis laxa. The forms are often distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms of cutis laxa tend to be more severe than the autosomal dominant forms, although some people with autosomal dominant cutis laxa are severely affected. In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone abnormalities. The X-linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is considered a mild type of Menkes syndrome, which is a condition that affects copper levels in the body. In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose joints. Other rare conditions, including arterial tortuosity syndrome, geroderma osteodysplastica, and RIN2 syndrome, are sometimes classified as cutis laxa-related conditions, because affected individuals can have loose, sagging skin. These conditions each have a particular pattern of signs and symptoms affecting different tissues and body systems.","Curated_Disease_Description_Source__c":"GARD:0006227","GARD_Synonym__c":"chalazoderma; chalazodermia; cutaneous laxity; dermatochalasia; dermatolysis; dermatomegaly; elastolysis; generalised elastolysis; generalized elastolysis; hanging skin; hypoelastic skin; inelastic skin; lax skin; loose and inelastic skin; loose skin; primary elastolysis; skin laxity","Name":"Cutis laxa","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Cutis Laxa Internationale","Website__c":"https://www.cutislaxa.org/"},{"Account_Name__c":"Cutis Laxa Research Study","Website__c":"http://www.cutislaxa.pitt.edu"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0010495"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0010495","Source__c":"C0010495","Xref__c":"C0010495"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=8206","Source__c":"C0010495","Xref__c":"MEDGEN:8206"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84663","Source__c":"C0010495; MONDO:0016175","Xref__c":"C84663"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=58588007","Source__c":"C0010495; MONDO:0016175","Xref__c":"58588007"},{"URL__c":"https://www.orpha.net/en/disease/detail/209","Source__c":"C0010495; MONDO:0016175; ORPHA:209","Xref__c":"ORPHA:209"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C003483","Source__c":"C0010495; MONDO:0016175","Xref__c":"D003483"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3144","Source__c":"MONDO:0016175","Xref__c":"DOID:3144"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0000973","Source__c":"C0010495","Xref__c":"HP:0000973"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016175","Source__c":"GARD:0006227","Xref__c":"MONDO:0016175"},{"URL__c":"https://medlineplus.gov/genetics/condition/cutis-laxa","Source__c":"GARD:0006227","Xref__c":"https://medlineplus.gov/genetics/condition/cutis-laxa"}],"Inheritance__c":["Autosomal dominant","X-linked recessive","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Rheumatology","Gastroenterology","Dermatology","Orthopedics"],"Account":["Dermatology"]},"synonyms":["chalazoderma"," chalazodermia"," cutaneous laxity"," dermatochalasia"," dermatolysis"," dermatomegaly"," elastolysis"," generalised elastolysis"," generalized elastolysis"," hanging skin"," hypoelastic skin"," inelastic skin"," lax skin"," loose and inelastic skin"," loose skin"," primary elastolysis"," skin laxity"],"spanishId":12979,"spanishName":"cutis-laxa"}