Fibulo-ulnar hypoplasia-renal anomalies syndrome
Synonyms: Saito-Kuba-Tsuruta syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fibulo-ulnar hypoplasia-renal anomalies syndrome | Saito-Kuba-Tsuruta syndrome |
| fr | Syndrome d'hypoplasie péroné-cubitus-anomalies rénales | Syndrome de Saito-Kuba-Tsuruta |
| de | Fibula-/Ulnahypoplasie-Nierenanomalien-Syndrom | Saito-Kuba-Tsuruta-Syndrom |
| es | Síndrome de hipoplasia de peroné y cúbito-anomalías renales | Síndrome de Saito-Kuba-Tsuruta |
| it | Ipoplasia peronale e cubitale - anomalie renali | Sindrome di Saito-Kuba-Tsuruta |
| nl | Fibulo-ulnaire hypoplasie - nieranomalieën-syndroom | Syndroom van Saito-Kuba-Tsuruta |
| pt | Síndrome de hipoplasia cubito-peroneal-anomalias renais | Síndrome Saito-Kuba-Tsuruta |
| pl | Hipoplazja strzałkowo-łokciowa - wady nerek | Zespół Saito, Kuba i Tsuruta |
| cs | Syndrom zahrnující fibuloulnární hypoplázii a anomálie ledvin | Saitové-Kubaův-Tsurutaův syndrom · Saito-Kuba-Tsurutaův syndrom |
| uk | Синдром фібуло-ульнарної гіпоплазії - аномалії розвитку нирок | Синдром Сайто-Куба-Цурути |
| zh | 腓骨-尺骨发育不良肾功能异常综合征 | Saito-Kuba-Tsuruta综合征 |
| tr | Fibulo-ulnar hipoplazi-renal anomaliler sendromu | Saito-Kuba-Tsuruta sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 228940 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009233 | E | validated | |
| MeSH | C537226 | E | validated | |
| UMLS | C1856727 | E | validated | |
| GARD | 320 | 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 (3):
- 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:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
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 | 2773984[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2773984[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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010242 | Aplasia of the proximal phalanges of the hand | |
| HP:0006492 | Aplasia/Hypoplasia of the fibula | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0006101 | Finger syndactyly | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0000347 | Micrognathia | |
| HP:0001561 | Polyhydramnios | |
| HP:0001622 | Premature birth | |
| HP:0000411 | Protruding ear | |
| HP:0003026 | Short long bone | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0100016 | Abnormality of mesentery morphology | |
| HP:0000028 | Cryptorchidism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000089 | Renal hypoplasia | |
| HP:0000049 | Shawl scrotum | |
| HP:0001195 | Single umbilical artery | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2256
- This record as JSON: /data/d/2256.json