Fibulo-ulnar hypoplasia - renal anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: Saito-Kuba-Tsuruta syndrome
Number of Symptoms 40
OrphanetNr: 2256
OMIM Id: 228940
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000049) Shawl scrotum Occasional [Orphanet] 31 / 7739
3
 (HPO:0000089) Renal hypoplasia 78 / 7739
4
 (HPO:0000107) Renal cyst 126 / 7739
5
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
6
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
7
 (HPO:0012581) Solitary renal cyst Very frequent [Orphanet] 7 / 7739
8
 (HPO:0000800) Cystic renal dysplasia 31 / 7739
9
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
10
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
11
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
12
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
13
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
14
 (HPO:0000347) Micrognathia 426 / 7739
15
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
16
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
17
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
18
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
19
 (HPO:0000377) Abnormality of the pinna 111 / 7739
20
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
21
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
22
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
23
 (HPO:0003027) Mesomelia 58 / 7739
24
 (HPO:0001159) Syndactyly 140 / 7739
25
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
26
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
27
 (HPO:0001622) Premature birth Very frequent [Orphanet] 100 / 7739
28
 (HPO:0001195) Single umbilical artery Occasional [Orphanet] 23 / 7739
29
 (HPO:0100016) Abnormality of mesentery morphology Occasional [Orphanet] 7 / 7739
30
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
31
 (HPO:0001660) Truncus arteriosus 21 / 7739
32
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
33
 (HPO:0002093) Respiratory insufficiency 410 / 7739
34
 (HPO:0002878) Respiratory failure 57 / 7739
35
 (OMIM) Oligosyndactyly 2 / 7739
36
 (HPO:0040064) Abnormality of limbs Very frequent [Orphanet] 16 / 7739
37
 (OMIM) Fibular agenesis 1 / 7739
38
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
40
 (HPO:0003811) Neonatal death 44 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: