ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 29 |
OrphanetNr: | |
OMIM Id: |
609944
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ICD-10: |
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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 recessive inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000047) | Hypospadias | 250 / 7739 | ||||
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(HPO:0000322) | Short philtrum | 130 / 7739 | ||||
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(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
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(HPO:0000426) | Prominent nasal bridge | 121 / 7739 | ||||
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(HPO:0000490) | Deeply set eye | 131 / 7739 | ||||
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(HPO:0000535) | Sparse and thin eyebrow | 76 / 7739 | ||||
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(HPO:0011800) | Midface retrusion | 221 / 7739 | ||||
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(HPO:0000276) | Long face | 109 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0001128) | Trichiasis | 4 / 7739 | ||||
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(HPO:0000621) | Entropion | 12 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000613) | Photophobia | 158 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0000767) | Pectus excavatum | 244 / 7739 | ||||
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(HPO:0009466) | Radial deviation of finger | 101 / 7739 | ||||
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(HPO:0002808) | Kyphosis | 289 / 7739 | ||||
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(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
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(HPO:0000968) | Ectodermal dysplasia | 46 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(MedDRA:10010984) | Corneal abrasion | 4 / 7739 | ||||
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(MedDRA:10058668) | Clinodactyly | 91 / 7739 | ||||
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(OMIM) | Balanced translocation carrier 46,XY,+(11:18)(p13:q21)mat | 1 / 7739 | ||||
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(OMIM) | Poor corneal tear film | 1 / 7739 | ||||
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(OMIM) | Abnormal/absent meibomian glands | 1 / 7739 | ||||
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(OMIM) | Coarse, dry scalp hair | 2 / 7739 | ||||
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(OMIM) | Progressive thinning of scalp hair | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Hill et al. (2004) reported 2 brothers with trichiasis (misdirected lashes), entropion with corneal abrasions, strabismus, progressive thinning of the scalp hair, sensorineural hearing impairment, mild learning difficulties, and inguinal hernias. The brothers had distinctive facial features with ... |