Aplasia cutis congenita - intestinal lymphangiectasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ACC WITH INTESTINAL LYMPHANGIECTASIA Autosomal recessive aplasia cutis Bronspiegel-Zelnick syndrome |
| Number of Symptoms | 20 |
| OrphanetNr: | 1116 |
| OMIM Id: |
207731
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| ICD-10: |
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| UMLs: |
C1859753 |
| MeSH: |
C537788 |
| 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: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic intestinal disease
-Rare genetic disease Genetic mixed dermis disorder -Rare genetic disease Malformation syndrome with skin/mucosae involvement -Rare developmental defect during embryogenesis -Rare genetic disease Mixed dermis disorder -Rare skin disease Rare intestinal disease -Rare gastroenterologic disease Syndromic lymphedema -Rare circulatory system disease -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000245) | Abnormality of the paranasal sinuses | 1 / 7739 | ||||
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(HPO:0001362) | Calvarial skull defect | Very frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0000479) | Abnormality of the retina | Occasional [Orphanet] | 74 / 7739 | |||
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(HPO:0000545) | Myopia | Occasional [Orphanet] | 286 / 7739 | |||
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(HPO:0000954) | Single transverse palmar crease | Very frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0002024) | Malabsorption | Frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0002593) | Intestinal lymphangiectasia | 6 / 7739 | ||||
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(HPO:0004471) | Aplasia cutis congenita over the scalp vertex | 2 / 7739 | ||||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0001888) | Lymphopenia | Frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0001892) | Abnormal bleeding | 85 / 7739 | ||||
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(HPO:0010701) | Abnormal immunoglobulin level | Frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0003010) | Prolonged bleeding time | Occasional [Orphanet] | 88 / 7739 | |||
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(HPO:0007430) | Generalized edema | 5 / 7739 | ||||
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(HPO:0003075) | Hypoproteinemia | Frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0001004) | Lymphedema | Very frequent [Orphanet] | 62 / 7739 | |||
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(OMIM) | Bony defect underlying ACC | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Sagittal sinus bleeding | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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