MCID: BRN123
MIFTS: 21

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 57
Mandibulofacial Dysostosis, Toriello Type 57 59
Branchial Arch Syndrome X-Linked 53 72
X-Linked Mandibulofacial Dysostosis with Limb Anomalies 59
Mandibulofacial Dysostosis Toriello Type 53
X-Linked Mandibulofacial Dysostosis 59
X-Linked Branchial Arch Syndrome 59
Mfd Toriello Type 53

Characteristics:

Orphanet epidemiological data:

59
x-linked mandibulofacial dysostosis
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
x-linked


HPO:

32
branchial arch syndrome, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 301950
ICD10 via Orphanet 34 Q75.4
UMLS via Orphanet 73 C1844918
Orphanet 59 ORPHA1131
MedGen 42 C1844918
UMLS 72 C1844918

Summaries for Branchial Arch Syndrome, X-Linked

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1131DefinitionX-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 microcephaly

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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
2 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
3 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
6 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
7 webbed neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000465
8 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
9 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
10 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
11 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
12 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
13 branchial anomaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0009794
14 hypoplasia of the zygomatic bone 32 hallmark (90%) HP:0010669
15 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
16 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
17 aplasia/hypoplasia of the eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0100840
18 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
19 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
20 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
21 abnormal mitral valve morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001633
22 pulmonic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001642
23 abnormality of the pulmonary artery 59 32 occasional (7.5%) Occasional (29-5%) HP:0004414
24 asymmetric growth 59 32 occasional (7.5%) Occasional (29-5%) HP:0100555
25 low-set ears 32 HP:0000369
26 hearing impairment 32 HP:0000365
27 high, narrow palate 32 HP:0002705
28 specific learning disability 32 HP:0001328
29 cheekbone underdevelopment 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 38 8
12002155 2002
2
Confirmation of the mandibulofacial dysostosis, Toriello type. 38 8
8465866 1993
3
Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome? 8
11310989 2001
4
X-linked syndrome of branchial arch and other defects. 8
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 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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