Banki syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 1228
OMIM Id: 109300
ICD-10: Q68.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with synostosis or other joint formation defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
2
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
3
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
4
 (HPO:0005048) Synostosis of carpal bones Very frequent [Orphanet] 39 / 7739
5
 (HPO:0009466) Radial deviation of finger 101 / 7739
6
 (OMIM) Lunate and cuneiform bone fusion 1 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
 (OMIM) Leptometacarpy (thin diaphysis) 1 / 7739
9
 (OMIM) Brachymetacarpy 1 / 7739
10
 (OMIM) Clinometacarpy 1 / 7739
11
 (HPO:0030084) Clinodactyly 90 / 7739
12
 (MedDRA:10058668) Clinodactyly 91 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: