Aplasia cutis congenita-intestinal lymphangiectasia syndrome
historical
Synonyms: Bronspiegel-Zelnick syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aplasia cutis congenita-intestinal lymphangiectasia syndrome | Bronspiegel-Zelnick syndrome |
| fr | Syndrome d'aplasie cutanée congénitale-lymphangiectasie intestinale | Syndrome de Bronspiegel-Zelnick |
| de | Aplasia cutis congenita mit intestinaler Lymphangiektasie | Bronspiegel-Zelnick-Syndrom |
| es | Síndrome de aplasia cutis congénita-linfangiectasia intestinal | Síndrome de Bronspiegel-Zelnick |
| it | Aplasia cutanea congenita - linfangectasia intestinale | Aplasia cutanea congenita autosomica recessiva · Sindrome di Bronspiegel-Zelnick |
| nl | Aplasia cutis congenita - intestinale lymfangiëctasie-syndroom | Syndroom van Bronspiegel-Zelnick |
| pt | síndrome de aplasia cutânea congénita-linfangiectasia intestinal | |
| pl | Wrodzony ubytek skóry - limfangiektazja jelitowa | Autosomalna recesywna aplazja skóry · Zespół Bronspiegela i Zelnicka |
| cs | Syndrom zahrnující aplasia cutis congenita a intestinální lymfangiektázii | Autozomálně recesivní aplasia cutis · Bronspiegelův-Zelnickův syndrom · Bronspiegel-Zelnickův syndrom |
| uk | Синдром вродженої аплазії шкіри - кишкової лімфангіектазії | Синдром Броншпігеля-Зельніка |
| zh | 先天性表皮发育不良肠淋巴管扩张综合征 | Bronspiegel-Zelnick综合征 |
| tr | Aplasia kutis konjenita-bağırsak lenfaryektazi sendromu | Bronspiegel-Zelnick sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 207731 | E | validated | |
| ICD-10 | Q84.8 | NTBT | attributed | validated |
| ICD-11 | LD27.Y | NTBT | index | validated |
| MONDO | 0008808 | E | validated | |
| MeSH | C537788 | E | validated | |
| UMLS | C4304031 | E | validated | |
| GARD | 753 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:165655Genetic intestinal disease
rare genetic diseases - ORPHA:183481Genetic mixed dermis disorder
rare genetic diseases - ORPHA:79380Mixed dermis disorder
rare skin diseases - ORPHA:568044Primary lymphedema with systemic or visceral involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:117569Rare intestinal disease
rare gastroenterological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 3984978[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3984978[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011362 | Abnormal hair quantity | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001004 | Lymphedema | |
| HP:0001362 | Skull defect | |
| Frequent (79-30%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0003075 | Hypoproteinemia | |
| HP:0001888 | Lymphopenia | |
| HP:0002024 | Malabsorption | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000545 | Myopia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1116
- This record as JSON: /data/d/1116.json