Brachydactyly - elbow wrist dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: BRACHYDACTYLY WITH JOINT DYSPLASIA
SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY
LBNBG
Liebenberg syndrome
Brachydactyly - joint dysplasia
Number of Symptoms 24
OrphanetNr: 1275
OMIM Id: 186550
ICD-10: Q73.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
2
 (HPO:0003063) Abnormality of the humerus Very frequent [Orphanet] 36 / 7739
3
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
4
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
5
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
6
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
7
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
8
 (HPO:0001191) Abnormality of the carpal bones 6 / 7739
9
 (HPO:0100759) Clubbing of fingers Very frequent [Orphanet] 40 / 7739
10
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
11
 (HPO:0003016) Metaphyseal widening 41 / 7739
12
 (HPO:0002987) Elbow flexion contracture 64 / 7739
13
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
14
 (HPO:0006190) Radially deviated wrists 1 / 7739
15
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
16
 (HPO:0009183) Joint contracture of the 5th finger 8 / 7739
17
 (HPO:0001233) 2-3 finger syndactyly 7 / 7739
18
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
 (MedDRA:10072883) Brachydactyly 153 / 7739
21
 (OMIM) Triquetro-pisiform fusion 1 / 7739
22
 (OMIM) Enlarged, poorly modeled metaphyses (distal humeri, proximal radii, and proximal ulnae) 1 / 7739
23
 (OMIM) Large triquetrum 1 / 7739
24
 (OMIM) Scaphoid-lunate fusion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Liebenberg syndrome is an upper limb malformation characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation (summary by Spielmann et al., 2012).
Clinical Description OMIM Liebenberg (1973) described 4 males and 6 females in 5 generations of a white South African family with upper limb deformities affecting the fingers, wrists, and elbows. Affected members had dysplasia of all bony components of the elbow ...
Molecular genetics OMIM In a large 7-generation family with Liebenberg syndrome mapping to chromosome 5q23-q31, Spielmann et al. (2012) performed exome enrichment of the critical region followed by high-throughput sequencing but did not identify a disease-causing mutation. Custom high-resolution array CGH ...