MCID: BRN123
MIFTS: 22

Branchial Arch Syndrome, X-Linked

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Branchial Arch Syndrome, X-Linked

MalaCards integrated aliases for Branchial Arch Syndrome, X-Linked:

Name: Branchial Arch Syndrome, X-Linked 56
Mandibulofacial Dysostosis, Toriello Type 56 58
Branchial Arch Syndrome X-Linked 52 71
X-Linked Mandibulofacial Dysostosis with Limb Anomalies 58
Mandibulofacial Dysostosis Toriello Type 52
X-Linked Mandibulofacial Dysostosis 58
X-Linked Branchial Arch Syndrome 58
Mfd Toriello Type 52

Characteristics:

Orphanet epidemiological data:

58
x-linked mandibulofacial dysostosis
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
x-linked


HPO:

31
branchial arch syndrome, x-linked:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Branchial Arch Syndrome, X-Linked

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1131 Definition X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly , malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia , short stature , bilateral hearing loss , and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. Visit the Orphanet disease page for more resources.

MalaCards based summary : Branchial Arch Syndrome, X-Linked, also known as mandibulofacial dysostosis, toriello type, is related to dysostosis and treacher collins syndrome 1. Affiliated tissues include bone, and related phenotypes are high palate and short stature

More information from OMIM: 301950

Related Diseases for Branchial Arch Syndrome, X-Linked

Diseases related to Branchial Arch Syndrome, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dysostosis 10.5
2 treacher collins syndrome 1 10.4
3 cryptorchidism, unilateral or bilateral 10.4
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
5 microcephaly 10.4

Graphical network of the top 20 diseases related to Branchial Arch Syndrome, X-Linked:



Diseases related to Branchial Arch Syndrome, X-Linked

Symptoms & Phenotypes for Branchial Arch Syndrome, X-Linked

Human phenotypes related to Branchial Arch Syndrome, X-Linked:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
5 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
7 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
8 webbed neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000465
9 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
10 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
11 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
12 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
13 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
14 branchial anomaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0009794
15 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
16 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
17 aplasia/hypoplasia of the eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0100840
18 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
19 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
20 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
21 abnormal mitral valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001633
22 pulmonic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001642
23 abnormality of the pulmonary artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004414
24 asymmetric growth 58 31 occasional (7.5%) Occasional (29-5%) HP:0100555
25 low-set ears 31 HP:0000369
26 hearing impairment 31 HP:0000365
27 high, narrow palate 31 HP:0002705
28 specific learning disability 31 HP:0001328

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
low-set ears
microcephaly
downslanting palpebral fissures
high arched palate
protruding ears
more
G U:
cryptorchidism

Neck:
slightly webbed neck

Growth:
short stature
body asymmetry

Neuro:
learning disability

Cardiac:
subvalvar pulmonic stenosis

Clinical features from OMIM:

301950

Drugs & Therapeutics for Branchial Arch Syndrome, X-Linked

Search Clinical Trials , NIH Clinical Center for Branchial Arch Syndrome, X-Linked

Genetic Tests for Branchial Arch Syndrome, X-Linked

Anatomical Context for Branchial Arch Syndrome, X-Linked

MalaCards organs/tissues related to Branchial Arch Syndrome, X-Linked:

40
Bone

Publications for Branchial Arch Syndrome, X-Linked

Articles related to Branchial Arch Syndrome, X-Linked:

# Title Authors PMID Year
1
Further delineation of mandibulofacial dysostosis: Toriello type. 61 56
12002155 2002
2
Confirmation of the mandibulofacial dysostosis, Toriello type. 61 56
8465866 1993
3
Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome? 56
11310989 2001
4
X-linked syndrome of branchial arch and other defects. 56
4039890 1985

Variations for Branchial Arch Syndrome, X-Linked

Expression for Branchial Arch Syndrome, X-Linked

Search GEO for disease gene expression data for Branchial Arch Syndrome, X-Linked.

Pathways for Branchial Arch Syndrome, X-Linked

GO Terms for Branchial Arch Syndrome, X-Linked

Sources for Branchial Arch Syndrome, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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