MCID: BRC091
MIFTS: 25

Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

MalaCards integrated aliases for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:

Name: Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 57 53 59 72
Bod Syndrome 57 53 59
Brachymorphism Onychodysplasia Dysphalangism Syndrome 53
Senior Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
brachymorphism-onychodysplasia-dysphalangism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
brachymorphism-onychodysplasia-dysphalangism syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 113477
MESH via Orphanet 45 C536242
ICD10 via Orphanet 34 Q87.1
UMLS via Orphanet 73 C1862082
Orphanet 59 ORPHA1292
MedGen 42 C1862082
UMLS 72 C1862082

Summaries for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

NIH Rare Diseases : 53 BOD syndrome is a genetic condition characterized by underdeveloped "pinky" toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new mutation. Signs and symptoms of BOD syndrome are similar to, albeit milder than that of, Coffin-Siris syndrome. The relationship between these syndromes is presently unknown.

MalaCards based summary : Brachymorphism-Onychodysplasia-Dysphalangism Syndrome, also known as bod syndrome, is related to senior-loken syndrome 1 and coffin-siris syndrome 1. An important gene associated with Brachymorphism-Onychodysplasia-Dysphalangism Syndrome is ACTL6A (Actin Like 6A). Affiliated tissues include lung and bone, and related phenotypes are delayed skeletal maturation and wide nasal bridge

More information from OMIM: 113477

Related Diseases for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Diseases related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 1 11.5
2 coffin-siris syndrome 1 10.8
3 brachydactyly 10.8
4 heart septal defect 10.8
5 microcephaly 10.8
6 arid1b-related disorder 10.8
7 brachydactyly, type b1 10.6
8 hypertelorism 10.6
9 telecanthus 10.6
10 patent ductus arteriosus 1 10.6
11 nail disorder, nonsyndromic congenital, 9 10.6
12 blepharophimosis 10.6
13 ventricular septal defect 10.6
14 atrial heart septal defect 10.6
15 dermatitis 10.6
16 acanthosis nigricans 9.7
17 retinitis pigmentosa 9.7
18 choroideremia 9.7
19 retinitis pigmentosa-deafness syndrome 9.7
20 branchiootic syndrome 1 9.7
21 retinitis pigmentosa 32 9.7
22 usher syndrome 9.7
23 neuroretinitis 9.7
24 neuronal ceroid lipofuscinosis 9.7
25 retinitis 9.7

Graphical network of the top 20 diseases related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:



Diseases related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Symptoms & Phenotypes for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Human phenotypes related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
2 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
6 hypoplastic toenails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001800
7 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
8 fingernail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100798
9 hypoplastic fifth fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0008398
10 toenail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100797
11 absent toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001802
12 absent fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001817
13 short distal phalanx of toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001857
14 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
15 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
16 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
17 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
18 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
19 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
20 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
21 pointed chin 59 32 frequent (33%) Frequent (79-30%) HP:0000307
22 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
23 triangular face 59 32 frequent (33%) Frequent (79-30%) HP:0000325
24 prominent nose 59 32 frequent (33%) Frequent (79-30%) HP:0000448
25 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
26 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
27 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
28 thick eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0000574
29 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
30 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
31 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
32 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
33 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
34 abnormal mitral valve morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001633
35 high anterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0009890
36 abnormality of the respiratory system 59 32 occasional (7.5%) Occasional (29-5%) HP:0002086
37 symphalangism affecting the phalanges of the hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0009773
38 abnormal facial shape 32 HP:0001999
39 anonychia 32 HP:0001798
40 nail dysplasia 32 HP:0002164
41 wide nose 32 HP:0000445
42 hypoplastic fingernail 59 Very frequent (99-80%)
43 short middle phalanx of the 5th finger 32 HP:0004220
44 congenital cystic adenomatoid malformation of the lung 32 HP:0010959
45 short distal phalanx of the 5th finger 32 HP:0004227

Symptoms via clinical synopsis from OMIM:

57
Head:
microcephaly

Nails:
nail dysplasia/aplasia
tiny fingernails

Limbs:
hypo/aplasia of terminal fifth digits
abnormal phalanges

Pulmonary:
cystic adenomatoid lung disease

Facies:
pointed chin
broad nose
facial dysmorphism
flat malar area
large mouth

Growth:
pre- and postnatal short stature

Neuro:
normal or only mildly reduced intelligence

Radiology:
hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe
brachymesophalangism v

Clinical features from OMIM:

113477

Drugs & Therapeutics for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Search Clinical Trials , NIH Clinical Center for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Genetic Tests for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Anatomical Context for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

MalaCards organs/tissues related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:

41
Lung, Bone

Publications for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Articles related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:

# Title Authors PMID Year
1
Is this the Coffin-Siris syndrome or the BOD syndrome? 38 8
19215055 2009
2
Brachymorphism-onychodysplasia-dysphalangism syndrome. 38 8
8445623 1993
3
Short stature and onychodysplasia. Report of a case resembling Senior syndrome. 8
4119233 1973
4
Impaired growth and onychodysplasia. Short children with tiny toenails. 8
5567413 1971
5
[BOD syndrome]. 38
23384652 2013
6
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. 38
10649791 2000
7
Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome? 38
9546830 1998

Variations for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Expression for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Search GEO for disease gene expression data for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome.

Pathways for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

GO Terms for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Sources for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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