Lower limb malformation-hypospadias syndrome
historical
Synonyms: Fried-Goldberg-Mundel syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lower limb malformation-hypospadias syndrome | Fried-Goldberg-Mundel syndrome |
| fr | Syndrome d'anomalie du membre inférieur-hypospadias | Syndrome de Fried-Golberg-Mundel |
| de | Anomalien der unteren Extremitäten-Hypospadie-Syndrom | Fried-Golberg-Mundel-Syndrom |
| es | Síndrome de malformación de las extremidades inferiores-hipospadias | Síndrome de Fried-Goldberg-Mundel |
| it | Sindrome da malformazioni degli arti inferiori e ipospadia | Sindrome di Fried-Golberg-Mundel |
| nl | Malformatie van onderste ledematen - hypospadie-syndroom | Syndroom van Fried-Goldberg-Mundel |
| pt | Síndrome de malformação dos membros inferiores-hipospadias | Síndrome Fried-Goldberg-Mundel |
| pl | Zniekształcenie kończyny dolnej - spodziectwo | Zespół Frieda, Goldberga i Mundela |
| cs | Syndrom zahrnující chybění dolní končetiny a hypospadii | Friedův-Goldbergův-Mundelův syndrom · Fried-Goldberg-Mundelův syndrom |
| uk | Синдром вади розвитку нижніх кінцівок - гіпоспадії | Синдром Фріда-Гольдберга-Мунделя |
| zh | 下肢畸形-尿道下裂综合征 | Fried-Goldberg-Mundel 综合征 |
| tr | Alt ekstremite malformasyonu-hipospadias sendromu | Fried-Goldberg-Mundel sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0016639 | E | validated | |
| MeSH | C535640 | E | validated | |
| UMLS | C2930962 | 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 (1):
- ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital 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 | 592351[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_592351[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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000047 | Hypospadias | |
| Frequent (79-30%) | ||
| HP:0001743 | Abnormality of the spleen | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0000400 | Macrotia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001622 | Premature birth | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000960 | Sacral dimple | |
| HP:0000470 | Short neck | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2487
- This record as JSON: /data/d/2487.json