Cutis laxa

Symptom Information:

Symptom ID: HPO:0000973
Synonyms:
Lax skin [HPO:0000973]
Loose skin [HPO:0000973]
Skin laxity [HPO:0000973]
Hyperextensible skin [Orphanet:23460]
Loose skin folds [Orphanet:23470]
Dermatochalasis [HPO:0000973]
Cutis Laxa [Orphanet:23470]
Excessive skin [Orphanet:23470]
Cutis laxa [OMIM:Cutis laxa]
Lax skin [OMIM:Lax skin]
Loose skin [OMIM:Loose skin]
Skin laxity [OMIM:Skin laxity]
Hyperelastic skin/cutaneous hyperlaxity [Orphanet:23460]
Loose skin/skin relaxation/excess skin/creases [Orphanet:23470]
Cutis laxa [Orphanet:23470]
Excessive skin [MedDRA:10064503]
Cutis laxa [MedDRA:10011692]
Dermatochalasis [MedDRA:10011692]
Dermatolysis [MedDRA:10011692]
Skin laxity [MedDRA:10011692]
Cutis laxa (especially hands and feet) [OMIM:Cutis laxa (especially hands and feet)]
Cutis laxa (infancy) [OMIM:Cutis laxa (infancy)]
Hyperextensible skin (in some patients) [OMIM:Hyperextensible skin (in some patients)]
Quality:
Cross references:
HPO:0000974 "Hyperextensible skin" [Orphanet:23460]
HPO:0008067 "Abnormally lax or hyperextensible skin" [Orphanet:23460]
HPO:0001582 "Loose, redundant skin" [Orphanet:23470]
Orphanet:23460 "Hyperelastic skin/cutaneous hyperlaxity" [Orphanet:23460]
Orphanet:23470 "Loose skin/skin relaxation/excess skin/creases" [Orphanet:23470]
OMIM: "Cutis laxa" [OMIM:Cutis laxa]
OMIM: "Lax skin" [OMIM:Lax skin]
OMIM: "Loose skin" [OMIM:Loose skin]
OMIM: "Skin laxity" [OMIM:Skin laxity]
OMIM: "Cutis laxa (especially hands and feet)" [OMIM:Cutis laxa (especially hands and feet)]
OMIM: "Cutis laxa (infancy)" [OMIM:Cutis laxa (infancy)]
OMIM: "Hyperextensible skin (in some patients)" [OMIM:Hyperextensible skin (in some patients)]
UMLS:C0010495 "Dermatochalasis" [HPO:0000973]
UMLS:C0010495 "Cutis Laxa" [Orphanet:23470]
UMLS:C1399774 "Excessive skin" [Orphanet:23470]
Is a (Direct Parents):
HPO         Abnormally lax or hyperextensible skin
MedDRA Dermal and epidermal conditions NEC
Orphanet Abnormality of the skin
MedDRA Connective tissue disorders (excl LE)
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the integument(HPO:0001574)
          Abnormality of the skin(HPO:0000951)
             Generalized abnormality of skin(HPO:0011354)
                Abnormality of skin morphology(HPO:0011121)
                   Abnormal elasticity of skin(HPO:0010647)
                      Abnormally lax or hyperextensible skin(HPO:0008067)
                         Cutis laxa(HPO:0000973)
MedDRA:
Skin and subcutaneous tissue disorders(MedDRA:10040785)
    Epidermal and dermal conditions(MedDRA:10014982)
       Dermal and epidermal conditions NEC(MedDRA:10012424)
          Cutis laxa(HPO:0000973)
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Connective tissue disorders (excl congenital)(MedDRA:10010761)
       Connective tissue disorders (excl LE)(MedDRA:10010762)
          Cutis laxa(HPO:0000973)
Database Frequency: 43 / 7739
Resource:

All diseases associated with this symptom:

ALDH18A1-related De Barsy syndrome (Orphanet:35664)
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 (OMIM:105250)
Acromelanosis (Orphanet:39)
Arterial tortuosity syndrome (Orphanet:3342)
Autosomal recessive cutis laxa type 2, classic type (Orphanet:357074)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency (Orphanet:91135)
C syndrome (Orphanet:1308)
CARPENTER SYNDROME 2 (OMIM:614976)
CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
CUTIS LAXA, AUTOSOMAL DOMINANT 2 (OMIM:614434)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Coffin-Lowry syndrome (Orphanet:192)
Costello syndrome (Orphanet:3071)
Cranioectodermal dysplasia 3 (OMIM:614099)
Cranioectodermal dysplasia 4 (OMIM:614378)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (Orphanet:221145)
Cutis laxa-Marfanoid syndrome (Orphanet:171719)
De Barsy syndrome (Orphanet:2962)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (OMIM:615349)
Familial amyloidosis, Finnish type (Orphanet:85448)
Familial primary localized cutaneous amyloidosis (Orphanet:353220)
Geroderma osteodysplastica (Orphanet:2078)
LOEYS-DIETZ SYNDROME, TYPE 2A (OMIM:608967)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Leprechaunism (Orphanet:508)
Lysinuric protein intolerance (Orphanet:470)
MACS syndrome (Orphanet:217335)
Menkes disease (Orphanet:565)
PYCR1-related DeBarsy syndrome (Orphanet:293633)
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome (Orphanet:276432)
Pseudoxanthoma elasticum (Orphanet:758)
SCARF syndrome (Orphanet:3134)
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
SRD5A3-CDG (Orphanet:324737)
Transaldolase deficiency (Orphanet:101028)
Weaver syndrome (Orphanet:3447)
Williams syndrome (Orphanet:904)