MCID: BNK001
MIFTS: 14

Banki Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Banki Syndrome

MalaCards integrated aliases for Banki Syndrome:

Name: Banki Syndrome 56 52 58 71
Fusion of the Lunate and Cuneiform Bones of the Wrist, Clinodactyly, Clinometacarpy, Brachymetacarpy and Leptometacarpy 52

Characteristics:

Orphanet epidemiological data:

58
banki syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
banki syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 109300
ICD10 via Orphanet 33 Q68.1
UMLS via Orphanet 72 C1862319
Orphanet 58 ORPHA1228
MedGen 41 C1862319
SNOMED-CT via HPO 68 17268007 263681008 43476002
UMLS 71 C1862319

Summaries for Banki Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1228 Definition Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation . There have been no further descriptions in the literature since 1965. Visit the Orphanet disease page for more resources.

MalaCards based summary : Banki Syndrome, is also known as fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy. Affiliated tissues include bone, and related phenotypes are brachydactyly and clinodactyly of the 5th finger

More information from OMIM: 109300

Related Diseases for Banki Syndrome

Symptoms & Phenotypes for Banki Syndrome

Human phenotypes related to Banki Syndrome:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
2 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
3 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
4 synostosis of carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0005048
5 radial deviation of finger 31 HP:0009466
6 clinodactyly 31 HP:0030084

Symptoms via clinical synopsis from OMIM:

56
Limbs:
clinodactyly
lunate and cuneiform bone fusion
clinometacarpy
brachymetacarpy
leptometacarpy (thin diaphysis)

Clinical features from OMIM:

109300

Drugs & Therapeutics for Banki Syndrome

Search Clinical Trials , NIH Clinical Center for Banki Syndrome

Genetic Tests for Banki Syndrome

Anatomical Context for Banki Syndrome

MalaCards organs/tissues related to Banki Syndrome:

40
Bone

Publications for Banki Syndrome

Variations for Banki Syndrome

Expression for Banki Syndrome

Search GEO for disease gene expression data for Banki Syndrome.

Pathways for Banki Syndrome

GO Terms for Banki Syndrome

Sources for Banki Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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