Brachymorphism-Onychodysplasia-Dysphalangism Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BRC091 MIFTS: 25	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome Categories: Bone diseases, Fetal diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

MalaCards integrated aliases for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:

Name: Brachymorphism-Onychodysplasia-Dysphalangism Syndrome ⁵⁷ ²⁰ ⁵⁸ ⁷¹

Bod Syndrome ⁵⁷ ²⁰ ⁵⁸

Brachymorphism Onychodysplasia Dysphalangism Syndrome ²⁰

Senior Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

HPO:

³¹

brachymorphism-onychodysplasia-dysphalangism syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 113477

MESH via Orphanet ⁴⁵ C536242

ICD10 via Orphanet ³³ Q87.1

UMLS via Orphanet ⁷² C1862082

Orphanet ⁵⁸ ORPHA1292

MedGen ⁴¹ C1862082

UMLS ⁷¹ C1862082

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Summaries for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

GARD : ²⁰ 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 related phenotypes are delayed skeletal maturation and wide nasal bridge

More information from OMIM: 113477

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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
1	senior-loken syndrome 1	11.3
2	coffin-siris syndrome 1	10.6
3	brachydactyly	10.5
4	microcephaly	10.5
5	heart septal defect	10.5
6	arid1b-related disorder	10.5
7	hypertelorism	10.4
8	telecanthus	10.4
9	patent ductus arteriosus 1	10.4
10	nail disorder, nonsyndromic congenital, 9	10.4
11	blepharophimosis	10.4
12	ventricular septal defect	10.4
13	atrial heart septal defect	10.4
14	dermatitis	10.4
15	acanthosis nigricans	9.8
16	retinitis pigmentosa	9.8
17	choroideremia	9.8
18	retinitis pigmentosa-deafness syndrome	9.8
19	ceroid lipofuscinosis, neuronal, 6	9.8
20	branchiootic syndrome 1	9.8
21	retinitis pigmentosa 32	9.8
22	usher syndrome	9.8
23	neuroretinitis	9.8
24	neuronal ceroid lipofuscinosis	9.8
25	retinitis	9.8

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

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Symptoms & Phenotypes for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Human phenotypes related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome:

⁵⁸ ³¹ (show all 45)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	delayed skeletal maturation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002750
2	wide nasal bridge ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000431
3	microcephaly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000252
4	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
5	hypoplastic toenails ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001800
6	brachydactyly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001156
7	long philtrum ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000343
8	hypoplastic fifth fingernail ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008398
9	fingernail dysplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100798
10	toenail dysplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100797
11	absent fingernail ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001817
12	absent toenail ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001802
13	short distal phalanx of toe ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001857
14	frontal bossing ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002007
15	strabismus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000486
16	biparietal narrowing ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004422
17	intrauterine growth retardation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001511
18	epicanthus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000286
19	wide mouth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000154
20	malar flattening ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000272
21	pointed chin ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000307
22	high forehead ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000348
23	triangular face ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000325
24	prominent nose ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000448
25	coarse facial features ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000280
26	inguinal hernia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000023
27	umbilical hernia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001537
28	thick eyebrow ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000574
29	intellectual disability, mild ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001256
30	brachycephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000248
31	atrial septal defect ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001631
32	clinodactyly of the 5th finger ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004209
33	generalized hirsutism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002230
34	high anterior hairline ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0009890
35	abnormal mitral valve morphology ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001633
36	abnormality of the respiratory system ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002086
37	symphalangism affecting the phalanges of the hand ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0009773
38	abnormal facial shape ³¹			HP:0001999
39	wide nose ³¹			HP:0000445
40	hypoplastic fingernail ⁵⁸		Very frequent (99-80%)
41	nail dysplasia ³¹			HP:0002164
42	anonychia ³¹			HP:0001798
43	short middle phalanx of the 5th finger ³¹			HP:0004220
44	congenital cystic adenomatoid malformation of the lung ³¹			HP:0010959
45	short distal phalanx of the 5th finger ³¹			HP:0004227

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

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

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Genetic Tests for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

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Anatomical Context for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

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

⁴⁰

Lung

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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? ⁵⁷ ⁶¹	Brautbar A...Shinawi M	19215055	2009
2	Brachymorphism-onychodysplasia-dysphalangism syndrome. ⁵⁷ ⁶¹	Verloes A...Koulischer L	8445623	1993
3	Short stature and onychodysplasia. Report of a case resembling Senior syndrome. ⁵⁷	Mace JW...Gotlin RW	4119233	1973
4	Impaired growth and onychodysplasia. Short children with tiny toenails. ⁵⁷	Senior B	5567413	1971
5	[BOD syndrome]. ⁶¹	Garcia Blanes CP...Febrer Bosch MI	23384652	2013
6	New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome. ⁶¹	Elliott AM...Teebi AS	10649791	2000
7	Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome? ⁶¹	Ounap K...Lipping-Sitska M	9546830	1998

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Genes for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

Genes related to Brachymorphism-Onychodysplasia-Dysphalangism Syndrome (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ACTL6A	Actin Like 6A	Protein Coding	8.32	GeneCards inferred via : Disorders (show sections)

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Variations for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

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Expression for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

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

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Pathways for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

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GO Terms for Brachymorphism-Onychodysplasia-Dysphalangism Syndrome

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⁵⁷ OMIM® (Updated 05-Mar-2021)

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