Hidrotic ectodermal dysplasia, Christianson-Fourie type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Christianson-Fourie syndrome |
| Number of Symptoms | 25 |
| OrphanetNr: | 1808 |
| OMIM Id: |
601375
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| ICD-10: |
Q82.8 |
| UMLs: |
C1832411 |
| MeSH: |
C536180 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 6 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT Ectodermal dysplasia syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0002223) | Absent eyebrow | 21 / 7739 | ||||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000653) | Sparse eyelashes | 58 / 7739 | ||||
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(HPO:0000606) | Abnormality of the periorbital region | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0010764) | Short eyelashes | 3 / 7739 | ||||
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(HPO:0002209) | Sparse scalp hair | 59 / 7739 | ||||
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(HPO:0002286) | Fair hair | 20 / 7739 | ||||
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(HPO:0002215) | Sparse axillary hair | 21 / 7739 | ||||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0001597) | Abnormality of the nail | Very frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0008404) | Nail dystrophy | 89 / 7739 | ||||
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(HPO:0007529) | Hidrotic ectodermal dysplasia | 3 / 7739 | ||||
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(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0001595) | Abnormality of the hair | Very frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0002225) | Sparse pubic hair | Frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0004763) | Paroxysmal supraventricular tachycardia | 10 / 7739 | ||||
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(HPO:0001662) | Bradycardia | 41 / 7739 | ||||
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(HPO:0011675) | Arrhythmia | Occasional [Orphanet] | 226 / 7739 | |||
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(OMIM) | No skin defects | 1 / 7739 | ||||
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(OMIM) | Unattached distal half of nails | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Normal teeth | 15 / 7739 | ||||
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(OMIM) | Normal sweating | 13 / 7739 | ||||
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(OMIM) | Short, thin, sparse, pale scalp hair | 1 / 7739 | ||||
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(OMIM) | Short, sparse eyelashes | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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