Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HEDH SYNDROME ANOTHER syndrome |
| Number of Symptoms | 28 |
| OrphanetNr: | 1882 |
| OMIM Id: |
225050
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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: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Syndromic hypothyroidism -Rare endocrine disease -Rare genetic disease |
Symptom Information:
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000535) | Sparse and thin eyebrow | 76 / 7739 | ||||
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(HPO:0002209) | Sparse scalp hair | 59 / 7739 | ||||
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(HPO:0000632) | Lacrimation abnormality | Frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0000821) | Hypothyroidism | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0000832) | Primary hypothyroidism | 4 / 7739 | ||||
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(HPO:0002750) | Delayed skeletal maturation | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0002164) | Nail dysplasia | 82 / 7739 | ||||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0001025) | Urticaria | 73 / 7739 | ||||
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(HPO:0000995) | Melanocytic nevus | Frequent [Orphanet] | 63 / 7739 | |||
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(HPO:0007607) | Hypohidrotic ectodermal dysplasia | 5 / 7739 | ||||
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(HPO:0002213) | Fine hair | Very frequent [Orphanet] | 77 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | 105 / 7739 | ||||
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(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0004370) | Abnormality of temperature regulation | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0005938) | Abnormal respiratory motile cilium morphology | 7 / 7739 | ||||
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(HPO:0012265) | Ciliary dyskinesia | 32 / 7739 | ||||
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(HPO:0002205) | Recurrent respiratory infections | Very frequent [Orphanet] | 254 / 7739 | |||
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(HPO:0002719) | Recurrent infections | 107 / 7739 | ||||
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(OMIM) | Urticaria pigmentosa-like skin and mucosal pigmentation | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Eyelashes normal | 3 / 7739 | ||||
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(OMIM) | Increased mast cells and melanin deposition in skin | 1 / 7739 | ||||
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(OMIM) | Abnormal microtubules in bronchial cilia by electron microscopy | 1 / 7739 | ||||
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(OMIM) | Ciliary dysgenesis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Pabst et al. (1981) reported 2 brothers with hypohidrotic ectodermal dysplasia, primary hypothyroidism of gradual development in early childhood, and ciliary dyskinesia or dysgenesis in the bronchial epithelium leading to or at least contributing to severe recurrent chest ... |