Cutis laxa
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 74 |
| OrphanetNr: | 209 |
| OMIM Id: |
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| ICD-10: |
Q82.8 |
| UMLs: |
C0010495 |
| MeSH: |
D003483 |
| MedDRA: |
10011692 |
| Snomed: |
58588007 |
Prevalence, inheritance and age of onset:
| Prevalence: | 0.1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive X-linked recessive Not applicable [Orphanet] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital entropion
-Rare eye disease -Rare genetic disease Genetic dermis elastic tissue disorder -Rare genetic disease -Rare skin disease Malformation syndrome with connective tissue involvement -Rare developmental defect during embryogenesis -Rare genetic disease Malformation syndrome with skin/mucosae involvement -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic diaphragmatic or abdominal wall malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis Syndromic diaphragmatic or thoracic malformation -Rare surgical thoracic disease |
Symptom Information:
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(HPO:0000010) | Recurrent urinary tract infections | Frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0000139) | Uterine prolapse | Frequent [Orphanet] | 6 / 7739 | |||
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(HPO:0008714) | Ureterovesical stenosis | Frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0000076) | Vesicoureteral reflux | Frequent [Orphanet] | 94 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0001357) | Plagiocephaly | Frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0001363) | Craniosynostosis | Occasional [Orphanet] | 132 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Occasional [Orphanet] | 644 / 7739 | |||
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(HPO:0000470) | Short neck | Occasional [Orphanet] | 345 / 7739 | |||
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(HPO:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0003196) | Short nose | Frequent [Orphanet] | 264 / 7739 | |||
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(HPO:0000171) | Microglossia | Frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0000153) | Abnormality of the mouth | Frequent [Orphanet] | 60 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Occasional [Orphanet] | 328 / 7739 | |||
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(HPO:0000160) | Narrow mouth | Frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0000262) | Turricephaly | Frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0000670) | Carious teeth | Frequent [Orphanet] | 145 / 7739 | |||
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(HPO:0000343) | Long philtrum | Frequent [Orphanet] | 262 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0000506) | Telecanthus | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000366) | Abnormality of the nose | Frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0000239) | Large fontanelles | Frequent [Orphanet] | 135 / 7739 | |||
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(HPO:0005989) | Redundant neck skin | Frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0000457) | Depressed nasal ridge | Frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0011800) | Midface retrusion | Occasional [Orphanet] | 221 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Occasional [Orphanet] | 305 / 7739 | |||
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(HPO:0001116) | Macular coloboma | Occasional [Orphanet] | 6 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0000821) | Hypothyroidism | Occasional [Orphanet] | 141 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Frequent [Orphanet] | 242 / 7739 | |||
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(HPO:0001373) | Joint dislocation | Frequent [Orphanet] | 59 / 7739 | |||
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0000767) | Pectus excavatum | Frequent [Orphanet] | 244 / 7739 | |||
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(HPO:0000768) | Pectus carinatum | Occasional [Orphanet] | 136 / 7739 | |||
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(HPO:0100777) | Exostoses | Occasional [Orphanet] | 32 / 7739 | |||
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(HPO:0002024) | Malabsorption | Frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0002607) | Bowel incontinence | Frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0001545) | Anteriorly placed anus | Frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0100628) | Esophageal diverticulum | Very frequent [Orphanet] | 1 / 7739 | |||
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(HPO:0002256) | Small bowel diverticula | Very frequent [Orphanet] | 6 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Very frequent [Orphanet] | 176 / 7739 | |||
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(HPO:0010318) | Aplasia/Hypoplasia of the abdominal wall musculature | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0004326) | Cachexia | Occasional [Orphanet] | 71 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
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(HPO:0100679) | Lack of skin elasticity | Very frequent [Orphanet] | 29 / 7739 | |||
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(HPO:0000964) | Eczema | Occasional [Orphanet] | 81 / 7739 | |||
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(HPO:0100678) | Premature skin wrinkling | Very frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0001025) | Urticaria | Occasional [Orphanet] | 73 / 7739 | |||
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(HPO:0000951) | Abnormality of the skin | Very frequent [Orphanet] | 147 / 7739 | |||
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(HPO:0010783) | Erythema | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0007495) | Prematurely aged appearance | Very frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0001582) | Redundant skin | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0200037) | Skin vesicle | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0001654) | Abnormality of the heart valves | Occasional [Orphanet] | 49 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
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(HPO:0001643) | Patent ductus arteriosus | Very frequent [Orphanet] | 228 / 7739 | |||
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(HPO:0001635) | Congestive heart failure | Occasional [Orphanet] | 232 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | Occasional [Orphanet] | 316 / 7739 | |||
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(HPO:0001974) | Leukocytosis | Occasional [Orphanet] | 33 / 7739 | |||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | Occasional [Orphanet] | 328 / 7739 | |||
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(HPO:0002097) | Emphysema | Occasional [Orphanet] | 40 / 7739 | |||
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(HPO:0002110) | Bronchiectasis | Frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | Frequent [Orphanet] | 254 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Occasional [Orphanet] | 410 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | Frequent [Orphanet] | 278 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|