ORPHA:2136
Hennekam syndrome
Synonyms: Lymphedema-lymphangiectasia-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare syndromic lymphedema characterized by the association of primary lymphedema, intestinal lymphangiectasia, intellectual deficit and unusual facial characteristics.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hennekam syndrome | Lymphedema-lymphangiectasia-intellectual disability syndrome |
| fr | Syndrome de Hennekam | Syndrome de lymphoedème-lymphangiectasie-déficience intellectuelle |
| de | Hennekam-Syndrom | Lymphödem-Lympangiektasie-Intelligenzminderung-Syndrom |
| es | Síndrome de Hennekam | Síndrome de linfedema-linfangiectasia-discapacidad intelectual |
| it | Sindrome di Hennekam | Linfangectasia - linfedema, tipo Hennekam · Sindrome linfedema-linfangectasia-disabilità intellettiva |
| nl | Syndroom van Hennekam | Lymfoedeem - lymfangiëctasie - intellectuele achterstand-syndroom |
| pt | Síndrome Hennekam | Síndrome de linfedema-linfangiectasia-perturbação do desenvolvimento intelectual |
| pl | Zespół Hennekama | Obrzęk limfatyczny - limfangiektazja - niepełnosprawność intelektualna |
| cs | Hennekamův syndrom | Syndrom zahrnující lymfedém, lymfangiektázii a mentální retardaci |
| uk | Синдром Хеннекама | Синдром лімфедеми-лімфангіектазії-інтелектуальної недостатності |
| zh | Hennekam综合征 | 淋巴水肿-淋巴管扩张-智力障碍综合征 |
| tr | Hennekam sendromu | Lenfödem-lenfanjiektazi-zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 235510 | BTNT | validated | |
| OMIM | 616006 | BTNT | validated | |
| OMIM | 618154 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | BD93.0 | NTBT | index | validated |
| MONDO | 0016256 | E | validated | |
| MeSH | C537255 | E | validated | |
| UMLS | C0340834 | E | validated | |
| GARD | 3318 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADAMTS3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:219 | ENSG00000156140 | 605011 | 4q13.3 | ADAM metallopeptidase with thrombospondin type 1 motif 3 | 28985353[PMID] |
| CCBE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29426 | ENSG00000183287 | 612753 | 18q21.32 | collagen and calcium binding EGF domains 1 | 19935664[PMID] |
| FAT4 | Disease-causing germline mutation(s) in | Assessed | HGNC:23109 | ENSG00000196159 | 612411 | 4q28.1 | FAT atypical cadherin 4 | 24913602[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 29560340[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29560340[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
51 annotations · validated 2017-11-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0012368 | Flat face | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0100764 | Lymphangioma | |
| HP:0001004 | Lymphedema | |
| HP:0001888 | Lymphopenia | |
| HP:0002024 | Malabsorption | |
| HP:0001530 | Mild postnatal growth retardation | |
| HP:0011069 | Supernumerary tooth | |
| HP:0009804 | Tooth agenesis | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0011830 | Abnormal oral mucosa morphology | |
| HP:0001541 | Ascites | |
| HP:0000337 | Broad forehead | |
| HP:0000286 | Epicanthus | |
| HP:0001055 | Erysipelas | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000501 | Glaucoma | |
| HP:0002716 | Lymphadenopathy | |
| HP:0000774 | Narrow chest | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001250 | Seizure | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0100026 | Arteriovenous malformation | |
| HP:0100835 | Benign neoplasm of the central nervous system | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0010310 | Chylothorax | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001363 | Craniosynostosis | |
| HP:0000086 | Ectopic kidney | |
| HP:0006101 | Finger syndactyly | |
| HP:0000085 | Horseshoe kidney | |
| HP:0001789 | Hydrops fetalis | |
| HP:0002901 | Hypocalcemia | |
| HP:0000160 | Narrow mouth | |
| HP:0001302 | Pachygyria | |
| HP:0001698 | Pericardial effusion | |
| HP:0006521 | Pulmonary lymphangiectasia | |
| HP:0002021 | Pyloric stenosis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000278 | Retrognathia | |
| HP:0000322 | Short philtrum | |
| HP:0002215 | Sparse axillary hair | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2136
- This record as JSON: /data/d/2136.json