MCID: BRC091
MIFTS: 27

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 58 54 60 74
Bod Syndrome 58 54 60
Brachymorphism Onychodysplasia Dysphalangism Syndrome 54
Senior Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
brachymorphism-onychodysplasia-dysphalangism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
brachymorphism-onychodysplasia-dysphalangism syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

NIH Rare Diseases : 54 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

Description 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:

# Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 1 11.3
2 coffin-siris syndrome 1 10.6
3 microcephaly 10.6
4 retinitis pigmentosa 9.8
5 choroideremia 9.8
6 retinitis pigmentosa-deafness syndrome 9.8
7 leber congenital amaurosis 4 9.8
8 usher syndrome 9.8
9 neuronal ceroid lipofuscinosis 9.8
10 retinitis 9.8

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:

60 33 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
2 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
3 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
6 hypoplastic toenails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001800
7 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
8 fingernail dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100798
9 hypoplastic fifth fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0008398
10 toenail dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100797
11 absent toenail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001802
12 absent fingernail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001817
13 short distal phalanx of toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0001857
14 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
15 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
16 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
17 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
18 biparietal narrowing 60 33 frequent (33%) Frequent (79-30%) HP:0004422
19 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
20 wide mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000154
21 pointed chin 60 33 frequent (33%) Frequent (79-30%) HP:0000307
22 high forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348
23 triangular face 60 33 frequent (33%) Frequent (79-30%) HP:0000325
24 prominent nose 60 33 frequent (33%) Frequent (79-30%) HP:0000448
25 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
26 coarse facial features 60 33 occasional (7.5%) Occasional (29-5%) HP:0000280
27 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
28 thick eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0000574
29 intellectual disability, mild 60 33 occasional (7.5%) Occasional (29-5%) HP:0001256
30 brachycephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000248
31 generalized hirsutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002230
32 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
33 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
34 symphalangism affecting the phalanges of the hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0009773
35 abnormality of the respiratory system 60 33 occasional (7.5%) Occasional (29-5%) HP:0002086
36 high anterior hairline 60 33 occasional (7.5%) Occasional (29-5%) HP:0009890
37 abnormal mitral valve morphology 33 occasional (7.5%) HP:0001633
38 abnormal facial shape 33 HP:0001999
39 anonychia 33 HP:0001798
40 abnormality of the mitral valve 60 Occasional (29-5%)
41 nail dysplasia 33 HP:0002164
42 wide nose 33 HP:0000445
43 hypoplastic fingernail 60 Very frequent (99-80%)
44 short middle phalanx of the 5th finger 33 HP:0004220
45 congenital cystic adenomatoid malformation of the lung 33 HP:0010959
46 short distal phalanx of the 5th finger 33 HP:0004227

Symptoms via clinical synopsis from OMIM:

58
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:

42
Lung, Bone

Publications for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Articles related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:

# Title Authors Year
1
New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. ( 10649791 )
2000
2
Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome? ( 9546830 )
1998
3
Brachymorphism-onychodysplasia-dysphalangism syndrome. ( 8445623 )
1993

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

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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