Dahlberg-Borer-Newcomer syndrome
historical
Synonyms: Dahlberg syndrome · Lymphedema-hypoparathyroidism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Childhood
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichoses, and nail abnormalities. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dahlberg-Borer-Newcomer syndrome | Dahlberg syndrome · Lymphedema-hypoparathyroidism syndrome |
| fr | Syndrome de Dahlberg-Borer-Newcomer | Syndrome de Dahlberg · Syndrome de lymphoedème-hypoparathyroïdie |
| de | Dahlberg-Borer-Newcomer-Syndrom | Dahlberg-Syndrom · Lymphödem mit Hypoparathyreoidismus |
| es | Síndrome de Dahlberg-Borer-Newcomer | Síndrome de Dahlberg · Síndrome de linfedema-hipoparatiroidismo |
| it | Sindrome di Dahlberg-Borer-Newcomer | Sindrome di Dahlberg · Sindrome linfedema-ipoparatiroidismo |
| nl | Syndroom van Dahlberg-Borer-Newcomer | Lymfoedeem - hypoparathyreoïdie-syndroom · Syndroom van Dahlberg |
| pt | Síndrome Dahlberg-Borer-Newcomer | Síndrome de linfedema-hipoparatiroidismo |
| pl | Zespół Dahlberga, Borera i Ncomera | Zespół Dahlberga · Zespół obrzęk limfatyczny - niedoczynność przytarczyc |
| cs | Dahlbergův-Borerův-Newcomerův syndrom | Syndrom zahrnující lymfedém a hypoparatyreózu · Dahlbergův syndrom · Dahlberg-Borer-Newcomerův syndrom |
| uk | Синдром Дальберга-Борера-Ньюкомера | Синдром Дальберга · Синдром лімфедеми-гіпопаратиреозу |
| zh | Dahlberg-Borer-Newcomer综合征 | 淋巴水肿-甲状旁腺功能减退综合征 |
| tr | Dahlberg-Borer-Newcomer sendromu | Dahlberg sendromu · Lenfödem-hipoparatiroidi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 247410 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009533 | E | validated | |
| MeSH | C535769 | E | validated | |
| UMLS | C1855477 | E | validated | |
| GARD | 237 | 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 (7):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:568044Primary lymphedema with systemic or visceral involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:181402Syndrome with hypoparathyroidism
rare genetic diseases; rare endocrine diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic 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 | 2 cases | Worldwide | Case(s) | Validated | 6638075[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6638075[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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001798 | Anonychia | |
| HP:0001156 | Brachydactyly | |
| HP:0002230 | Generalized hirsutism | |
| HP:0002901 | Hypocalcemia | |
| HP:0000966 | Hypohidrosis | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0000821 | Hypothyroidism | |
| HP:0001004 | Lymphedema | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0000112 | Nephropathy | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
| HP:0000506 | Telecanthus | |
| HP:0001072 | Thickened skin | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| Occasional (29-5%) | ||
| HP:0000083 | Renal insufficiency | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1563
- This record as JSON: /data/d/1563.json