Isolated adermatoglyphia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FINGERPRINTS, ABSENCE OF ADERM Immigration delay disease Absence of fingerprints |
| Number of Symptoms | 10 |
| OrphanetNr: | 289465 |
| OMIM Id: |
136000
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| ICD-10: |
Q82.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Malformation syndrome with skin/mucosae involvement
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0001217) | Clubbing | 39 / 7739 | ||||
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(HPO:0007455) | Adermatoglyphia | 4 / 7739 | ||||
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(HPO:0010765) | Palmar hyperkeratosis | 3 / 7739 | ||||
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(OMIM) | Slight clubbing | 1 / 7739 | ||||
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(OMIM) | Reduced number of sweat glands in palms and soles | 1 / 7739 | ||||
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(OMIM) | Calluses on weight-bearing areas of soles | 1 / 7739 | ||||
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(OMIM) | Epidermal ridges absent from palms and soles | 1 / 7739 | ||||
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(OMIM) | Mild hyperkeratosis of palms | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Reduced sweating of palms and soles | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Adermatoglyphia is characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and ... |
| Clinical Description OMIM |
Burger et al. (2011) reported a 29-year-old woman who presented because of recurrent difficulty at immigration checkpoints due to absent fingerprints. On examination, epidermal ridges were completely missing from her fingers, toes, palms, and soles, and the creases ... |
| Molecular genetics OMIM |
In a 4-generation Swiss kindred with adermatoglyphia mapping to chromosome 4q, originally studied by Burger et al. (2011), Nousbeck et al. (2011) sequenced all coding and noncoding exons of the 17 genes located within the disease interval but ... |