ORPHA:3164
Omphalocele syndrome, Shprintzen-Goldberg type
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
ShprintzenGoldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Omphalocele syndrome, Shprintzen-Goldberg type | |
| fr | Syndrome omphalocèle de Shprintzen | |
| de | Omphalozele-Syndrom Typ Shprintzen-Goldberg | |
| es | Síndrome de onfalocele, tipo Shprintzen-Goldberg | |
| it | Sindrome da onfalocele di Shprintzen | |
| nl | Omfalocele-syndroom, Shprintzen-Goldberg-type | |
| pt | Síndrome de onfalocelo, tipo Shprintzen-Goldberg | |
| pl | Zespół przepukliny pępowinowej typu Shprintzena i Goldberga | |
| cs | Syndrom omfalokély, Shprintzenův-Goldbergův typ | Syndrom omfalokély, Shprintzen-Goldbergův typ |
| uk | Синдром омфалоцеле, тип Шпрінцена-Гольдберга | |
| zh | 脐膨出综合征，Shprintzen-Goldberg亚型 | |
| tr | Omfalosel sendromu, Shprintzen-Goldberg tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182210 | E | validated | |
| ICD-10 | Q79.2 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008425 | E | validated | |
| MeSH | C537329 | E | validated | |
| UMLS | C1866958 | E | validated | |
| GARD | 9850 | 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 (3):
- 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:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 16411191[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16411191[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.
6
HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0005956 | Anteroposteriorly shortened larynx | |
| HP:0001263 | Global developmental delay | |
| HP:0009555 | Hypoplasia of the pharynx | |
| HP:0001252 | Hypotonia | |
| HP:0008749 | Laryngeal hypoplasia | |
| HP:0002650 | Scoliosis | |
| HP:0005338 | Sparse lateral eyebrow | |
| Frequent (79-30%) | ||
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0001539 | Omphalocele | |
| HP:0002000 | Short columella | |
| HP:0000506 | Telecanthus | |
| HP:0000219 | Thin upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0002023 | Anal atresia | |
| HP:0002028 | Chronic diarrhea | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000465 | Webbed neck | |
Run the differential on the 9 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3164
- This record as JSON: /data/d/3164.json