Hydrocephaly-low insertion umbilicus syndrome
historical
Synonyms: Palmer-Pagon syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hydrocephaly-low insertion umbilicus syndrome | Palmer-Pagon syndrome |
| fr | Syndrome d'hydrocéphalie-implantation basse de l'ombilic | Syndrome de Palmer-Pagon |
| de | Hydrozephalus-Nabelschnuranomalien-Syndrom | Palmer-Pagon-Syndrom |
| es | Síndrome de hidrocefalia-ombligo de inserción baja | Síndrome de Palmer-Pagon |
| it | Sindrome idrocefalo-ombelico a bassa inserzione | Sindrome di Palmer-Pagon |
| nl | Hydrocefalie - lage umbilicale insertie-syndroom | Syndroom van Palmer-Pagon |
| pt | Síndrome de hidrocefalia-umbigo de inserção baixa | Síndrome Palmer-Pagon |
| pl | Wodogłowie - nisko osadzony pępek | Zespół Palmera i Pagona |
| cs | Syndrom zahrnující hydrocefalus a nízko položený pupek | Palmerův-Pagonův syndrom · Palmer-Pagonův syndrom |
| uk | Синдром гідроцефалії-низького вставлення пуповини | Синдром Палмера-Пагона |
| zh | 脑积水-低插入脐综合征 | Palmer-Pagon 综合征 |
| tr | Hidrosefali-düşük insersiyonlu umbilikus sendromu | Palmer-Pagon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0043164 | E | validated | |
| MeSH | C538107 | E | validated | |
| UMLS | C2931734 | E | validated | |
| GARD | 4199 | 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 (2):
- ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological 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 | 8305966[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8305966[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000765 | Abnormal thorax morphology | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001334 | Communicating hydrocephalus | |
| HP:0000286 | Epicanthus | |
| HP:0004299 | Hernia of the abdominal wall | |
| HP:0003189 | Long nose | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0010772 | Anomalous pulmonary venous return | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001636 | Tetralogy of Fallot | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2184
- This record as JSON: /data/d/2184.json