Radio-ulnar synostosis - amegakaryocytic thrombocytopenia

General Information (adopted from Orphanet):

Synonyms, Signs: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS
CTRUS
RUSAT
ATRUS syndrome
Number of Symptoms 23
OrphanetNr: 71289
OMIM Id: 605432
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hemorrhagic disorder due to a constitutional thrombocytopenia
 -Rare genetic disease
 -Rare hematologic disease
Syndrome with synostosis or other joint formation defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
2
 (HPO:0006394) Limited pronation/supination of forearm 4 / 7739
3
 (HPO:0002986) Radial bowing 27 / 7739
4
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
5
 (HPO:0003182) Shallow acetabular fossae 10 / 7739
6
 (HPO:0003031) Ulnar bowing 16 / 7739
7
 (HPO:0001159) Syndactyly 140 / 7739
8
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
9
 (HPO:0002974) Radioulnar synostosis Very frequent [Orphanet] 52 / 7739
10
 (HPO:0005037) Proximal radio-ulnar synostosis 6 / 7739
11
 (HPO:0002827) Hip dislocation 94 / 7739
12
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
13
 (HPO:0000967) Petechiae 26 / 7739
14
 (HPO:0000979) Purpura 27 / 7739
15
 (HPO:0001876) Pancytopenia Occasional [Orphanet] 89 / 7739
16
 (HPO:0001873) Thrombocytopenia Frequent [Orphanet] 224 / 7739
17
 (HPO:0005548) Megakaryocytopenia 2 / 7739
18
 (HPO:0001905) Congenital thrombocytopenia 4 / 7739
19
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
20
 (HPO:0001915) Aplastic anemia 16 / 7739
21
 (OMIM) Normal karyotype 5 / 7739
22
 (OMIM) No chromosomal breakage 1 / 7739
23
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Thompson and Nguyen (2000) observed 2 families with autosomal dominant inheritance of radioulnar synostosis (see 179300) in association with amegakaryocytic thrombocytopenia. The fathers and all affected children in both families (2 of 3 in 1 family and both ...
Molecular genetics OMIM In affected members of 2 families segregating radioulnar synostosis and amegakaryocytic thrombocytopenia, Thompson and Nguyen (2000) identified a heterozygous mutation in the HOXA11 gene (142958.0001).