Ectodermal dysplasia syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Ectodermal dysplasia |
| Number of Symptoms | 47 |
| OrphanetNr: | 79373 |
| OMIM Id: |
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| ICD-10: |
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| UMLs: |
C0013575 |
| MeSH: |
D004476 |
| MedDRA: |
10010452 |
| Snomed: |
254154003 8654005 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Epidermal appendage anomaly
-Rare skin disease Genetic epidermal appendage anomaly -Rare genetic disease Malformation syndrome with skin/mucosae involvement -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000271) | Abnormality of the face | Occasional [Orphanet] | 108 / 7739 | |||
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(HPO:0000202) | Oral cleft | Frequent [Orphanet] | 120 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0100776) | Recurrent pharyngitis | Occasional [Orphanet] | 18 / 7739 | |||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Occasional [Orphanet] | 117 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0000246) | Sinusitis | Occasional [Orphanet] | 73 / 7739 | |||
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(HPO:0006482) | Abnormality of dental morphology | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0000217) | Xerostomia | Occasional [Orphanet] | 35 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000929) | Abnormality of the skull | Occasional [Orphanet] | 53 / 7739 | |||
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(HPO:0000445) | Wide nose | Occasional [Orphanet] | 190 / 7739 | |||
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(HPO:0000232) | Everted lower lip vermilion | Occasional [Orphanet] | 90 / 7739 | |||
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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
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(HPO:0000613) | Photophobia | Occasional [Orphanet] | 158 / 7739 | |||
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(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
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(HPO:0000478) | Abnormality of the eye | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0001097) | Keratoconjunctivitis sicca | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0100533) | Inflammatory abnormality of the eye | Occasional [Orphanet] | 70 / 7739 | |||
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(HPO:0000389) | Chronic otitis media | Occasional [Orphanet] | 64 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Occasional [Orphanet] | 328 / 7739 | |||
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(HPO:0000598) | Abnormality of the ear | Frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | Occasional [Orphanet] | 164 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0002015) | Dysphagia | Occasional [Orphanet] | 301 / 7739 | |||
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(HPO:0006709) | Aplasia/Hypoplasia of the nipples | Frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0009380) | Aplasia of the fingers | Occasional [Orphanet] | 51 / 7739 | |||
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(HPO:0001155) | Abnormality of the hand | Occasional [Orphanet] | 54 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Occasional [Orphanet] | 198 / 7739 | |||
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(HPO:0001760) | Abnormality of the foot | Occasional [Orphanet] | 96 / 7739 | |||
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(HPO:0001161) | Hand polydactyly | Occasional [Orphanet] | 71 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Occasional [Orphanet] | 492 / 7739 | |||
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(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0008069) | Neoplasm of the skin | Occasional [Orphanet] | 84 / 7739 | |||
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(HPO:0002213) | Fine hair | Frequent [Orphanet] | 77 / 7739 | |||
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(HPO:0000956) | Acanthosis nigricans | Occasional [Orphanet] | 54 / 7739 | |||
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(HPO:0002217) | Slow-growing hair | Very frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0000958) | Dry skin | Very frequent [Orphanet] | 152 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | Occasional [Orphanet] | 105 / 7739 | |||
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(HPO:0001820) | Leukonychia | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000964) | Eczema | Occasional [Orphanet] | 81 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Occasional [Orphanet] | 216 / 7739 | |||
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(HPO:0003777) | Pili torti | Occasional [Orphanet] | 24 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0002047) | Malignant hyperthermia | Occasional [Orphanet] | 20 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Occasional [Orphanet] | 148 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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