MCID: BRC095
MIFTS: 16

Brachydactyly, Mononen Type

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Brachydactyly, Mononen Type

MalaCards integrated aliases for Brachydactyly, Mononen Type:

Name: Brachydactyly, Mononen Type 57
Mononen Karnes Senac Syndrome 20 44 70
Mononen-Karnes-Senac Syndrome 12 58
Thumbs and Great Toes, Short and Abducted 57
Skeletal Dysplasia-Brachydactyly Syndrome 58
Short and Abducted Thumbs and Great Toes 12
Thumbs and Great Toes Short and Abducted 20
Skeletal Dysplasia Brachydactyly 20
Mononen Type Brachydactyly 12
Brachydactyly Mononen Type 20

Characteristics:

Orphanet epidemiological data:

58
mononen-karnes-senac syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked dominant

Miscellaneous:
females show less severe phenotypic variation


HPO:

31
brachydactyly, mononen type:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110973
OMIM® 57 301940
MeSH 44 C535914
SNOMED-CT 67 733095006
MESH via Orphanet 45 C535914
ICD10 via Orphanet 33 Q87.5
UMLS via Orphanet 71 C2931060
Orphanet 58 ORPHA2565
MedGen 41 C1844919
UMLS 70 C2931060

Summaries for Brachydactyly, Mononen Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2565 Definition Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations ( brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.

MalaCards based summary : Brachydactyly, Mononen Type, is also known as mononen karnes senac syndrome. Related phenotypes are short 1st metacarpal and mild short stature

Disease Ontology : 12 A brachydactyly characterized by short, abducted thumbs and great toes.

More information from OMIM: 301940

Related Diseases for Brachydactyly, Mononen Type

Symptoms & Phenotypes for Brachydactyly, Mononen Type

Human phenotypes related to Brachydactyly, Mononen Type:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 short 1st metacarpal 31 HP:0010034
2 mild short stature 31 HP:0003502
3 short first metatarsal 31 HP:0010105
4 absent distal phalanges 31 HP:0005807
5 synostosis of carpals/tarsals 31 HP:0100266
6 coalescence of tarsal bones 31 HP:0005802
7 proximal fibular overgrowth 31 HP:0005067
8 aplasia of the distal phalanx of the 2nd finger 31 HP:0009565
9 absent distal phalanx of the 2nd toe 31 HP:0010432

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Feet:
coalescence of tarsal bones
short first metatarsals
absent distal phalanges of second toes

Skeletal Hands:
short first metacarpals
short, abducted thumbs
absent distal phalanges of index fingers
coalescence of carpal bones

Skeletal Limbs:
proximal fibular overgrowth
mild bowleg

Growth Height:
short stature, variable, mild

Clinical features from OMIM®:

301940 (Updated 05-Apr-2021)

Drugs & Therapeutics for Brachydactyly, Mononen Type

Search Clinical Trials , NIH Clinical Center for Brachydactyly, Mononen Type

Cochrane evidence based reviews: mononen karnes senac syndrome

Genetic Tests for Brachydactyly, Mononen Type

Anatomical Context for Brachydactyly, Mononen Type

Publications for Brachydactyly, Mononen Type

Articles related to Brachydactyly, Mononen Type:

# Title Authors PMID Year
1
New skeletal dysplasia with unique brachydactyly. 57
1632443 1992

Variations for Brachydactyly, Mononen Type

Expression for Brachydactyly, Mononen Type

Search GEO for disease gene expression data for Brachydactyly, Mononen Type.

Pathways for Brachydactyly, Mononen Type

GO Terms for Brachydactyly, Mononen Type

Sources for Brachydactyly, Mononen Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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