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 57 53 59 73
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:



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 malar flattening and frontal bossing

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

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

Human phenotypes related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
2 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
3 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
4 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
5 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
6 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
7 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
8 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
9 thick eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0000574
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
12 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
13 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
14 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
15 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
16 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
17 biparietal narrowing 59 32 frequent (33%) Frequent (79-30%) HP:0004422
18 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
19 hypoplastic toenails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001800
20 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
21 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
22 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
23 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
24 pointed chin 59 32 frequent (33%) Frequent (79-30%) HP:0000307
25 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
26 triangular face 59 32 frequent (33%) Frequent (79-30%) HP:0000325
27 symphalangism affecting the phalanges of the hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0009773
28 abnormality of the respiratory system 59 32 occasional (7.5%) Occasional (29-5%) HP:0002086
29 fingernail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100798
30 hypoplastic fifth fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0008398
31 prominent nose 59 32 frequent (33%) Frequent (79-30%) HP:0000448
32 high anterior hairline 59 32 occasional (7.5%) Occasional (29-5%) HP:0009890
33 toenail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100797
34 absent toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001802
35 absent fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001817
36 short distal phalanx of toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001857
37 abnormal facial shape 32 HP:0001999
38 anonychia 32 HP:0001798
39 abnormality of the mitral valve 59 Occasional (29-5%)
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
46 abnormal mitral valve morphology 32 occasional (7.5%) HP:0001633

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 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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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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