MCID: MXL016
MIFTS: 38

Maxillonasal Dysplasia, Binder Type

Categories: Rare diseases, Ear diseases, Fetal diseases, Respiratory diseases

Aliases & Classifications for Maxillonasal Dysplasia, Binder Type

MalaCards integrated aliases for Maxillonasal Dysplasia, Binder Type:

Name: Maxillonasal Dysplasia, Binder Type 57 76 53 44 73
Binder Syndrome 57 12 53 59 15
Binder Type Maxillonasal Dysplasia 12
Maxillonasal Dysostosis 59
Maxillonasal Dysplasia 59

Characteristics:

Orphanet epidemiological data:

59
maxillonasal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant vs. multifactorial
heterogeneous


HPO:

32
maxillonasal dysplasia, binder type:
Inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 155050
Disease Ontology 12 DOID:14683
MeSH 44 C536036
Orphanet 59 ORPHA1248
UMLS via Orphanet 74 C0220692 C3888567
ICD10 via Orphanet 34 Q75.8
MedGen 42 C0220692
UMLS 73 C0220692

Summaries for Maxillonasal Dysplasia, Binder Type

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1248Disease definitionBinder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.EpidemiologyBinder syndrome occurs in less than one birth in 10,000 but is probably underdiagnosed.Clinical descriptionAffected individuals typically have an unusually flat, underdeveloped midface (midfacial hypoplasia), with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a 'reverse overbite'' (or class III malocclusion). Hypoplasia of distal phalanges of fingers was reported in some cases.EtiologyThe etiology and pathogenesis of Binder syndrome remains uncertain.Differential diagnosisPhenocopies of Binder syndrome have been described in children exposed in utero to phenytoin or to vitamin K deficiency, being induced either by drug (anticoagulants) or by biliary lithiasis. Some authors consider Binder syndrome as an allelic form of chondrodysplasia punctata. Others suggest that Binder type maxillonasal dysplasia does not represent a distinct disease entity or syndrome, but rather is a nonspecific abnormality of the nasomaxillary regions.Antenatal diagnosisPrenatal diagnosis by two and three-dimensional ultrasound is possible (visualization of flat profile; bone hypoplasia) from 20-22 weeks of gestation.Genetic counselingMost reported cases were sporadic. A few cases of recurrence in pedigrees could be explained by either autosomal recessive or dominant inheritance with reduced penetrance or by multifactorial etiology.Management and treatmentSince the degree of malformation in Binder syndrome varies significantly, surgical correction (orthodontic, plastic surgery) needs to be tailored individually.Visit the Orphanet disease page for more resources.

MalaCards based summary : Maxillonasal Dysplasia, Binder Type, also known as binder syndrome, is related to cleft palate, isolated and chondrodysplasia punctata syndrome. An important gene associated with Maxillonasal Dysplasia, Binder Type is ALX3 (ALX Homeobox 3). Affiliated tissues include bone, and related phenotypes are scoliosis and mandibular prognathia

Wikipedia : 76 Binder\'s Syndrome/Binder Syndrome (Maxillo-Nasal Dysplasia) is a developmental disorder primarily... more...

Description from OMIM: 155050

Related Diseases for Maxillonasal Dysplasia, Binder Type

Diseases related to Maxillonasal Dysplasia, Binder Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 28.9 ALX3 SATB2
2 chondrodysplasia punctata syndrome 10.1
3 dysostosis 10.0
4 acrofrontofacionasal dysostosis 9.9 ALX3 SATB2
5 meningocele 9.9 ALX3 SATB2
6 hemifacial microsomia 9.8 ALX3 SATB2
7 vitamin k deficiency hemorrhagic disease 9.7
8 cervicitis 9.7
9 acromelic frontonasal dysostosis 9.7 ALX3 SHH
10 agnathia-otocephaly complex 9.5 ALX3 SHH
11 anus, imperforate 9.4 SATB2 SHH
12 physical disorder 9.2 SATB2 SHH
13 coloboma of macula 9.1 SATB2 SHH
14 orofacial cleft 8.9 ALX3 SATB2 SHH

Graphical network of the top 20 diseases related to Maxillonasal Dysplasia, Binder Type:



Diseases related to Maxillonasal Dysplasia, Binder Type

Symptoms & Phenotypes for Maxillonasal Dysplasia, Binder Type

Symptoms via clinical synopsis from OMIM:

57
Facies:
short nose
short columella
flat nasal bridge
maxillonasal dysplasia
acute nasolabial angle
more
Teeth:
malocclusion
midfacial hypoplasia
lack of anterior nasal spine

Spine:
patchy distortion of vertebrae
vertebral clefting

Limbs:
terminal phalangeal hypoplasia of hand


Clinical features from OMIM:

155050

Human phenotypes related to Maxillonasal Dysplasia, Binder Type:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
2 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
3 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
4 open bite 59 32 frequent (33%) Frequent (79-30%) HP:0010807
5 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
6 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
7 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
8 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
9 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
10 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
11 striae distensae 59 32 frequent (33%) Frequent (79-30%) HP:0001065
12 reduced number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0009804
13 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
14 short distal phalanx of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009882
15 short columella 59 32 hallmark (90%) Very frequent (99-80%) HP:0002000
16 abnormality of the nares 59 32 frequent (33%) Frequent (79-30%) HP:0005288
17 vitamin k deficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0011892
18 aplasia/hypoplasia of the distal phalanges of the toes 59 32 occasional (7.5%) Occasional (29-5%) HP:0010185
19 patchy distortion of vertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0004609
20 vertebral clefting 59 32 frequent (33%) Frequent (79-30%) HP:0008428
21 dental malocclusion 32 HP:0000689
22 large earlobe 32 HP:0009748

MGI Mouse Phenotypes related to Maxillonasal Dysplasia, Binder Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.77 F2 SATB2 SHH YARS ALX3
2 growth/size/body region MP:0005378 9.72 ALX3 F2 SATB2 SHH YARS
3 digestive/alimentary MP:0005381 9.71 ALX3 F2 SATB2 SHH
4 mortality/aging MP:0010768 9.55 ALX3 F2 SATB2 SHH YARS
5 limbs/digits/tail MP:0005371 9.43 SHH ALX3 SATB2
6 respiratory system MP:0005388 9.26 ALX3 F2 SATB2 SHH
7 skeleton MP:0005390 8.92 ALX3 F2 SATB2 SHH

Drugs & Therapeutics for Maxillonasal Dysplasia, Binder Type

Search Clinical Trials , NIH Clinical Center for Maxillonasal Dysplasia, Binder Type

Cochrane evidence based reviews: maxillonasal dysplasia, binder type

Genetic Tests for Maxillonasal Dysplasia, Binder Type

Anatomical Context for Maxillonasal Dysplasia, Binder Type

MalaCards organs/tissues related to Maxillonasal Dysplasia, Binder Type:

41
Bone

Publications for Maxillonasal Dysplasia, Binder Type

Articles related to Maxillonasal Dysplasia, Binder Type:

(show all 29)
# Title Authors Year
1
Nasal reconstruction in Binder syndrome. ( 26541235 )
2015
2
Orthodontic Treatment of Binder Syndrome: A Case Report With 5 Years of Follow-up. ( 25191869 )
2014
3
Modified nasomaxillary and hard palatine osteotomy combined nasal implantation to correct Binder syndrome. ( 23348286 )
2013
4
A novel single-rib recombination method in binder syndrome treatment. ( 23241759 )
2013
5
Binder syndrome. ( 22777437 )
2012
6
Oral and craniofacial findings of binder syndrome: two case reports. ( 21309654 )
2012
7
Surgical management of binder syndrome: lessons learned. ( 20972568 )
2010
8
Alar augmentation in the management of Binder syndrome. ( 19644297 )
2009
9
Case report and surgical solution for nasal spine agenesis in a woman with Binder syndrome. ( 18060555 )
2008
10
Nasomaxillary reconstruction in Binder syndrome: bone versus cartilage grafts. A long-term intercenter comparison between Sweden and Mexico. ( 18812845 )
2008
11
A different look at treating a patient with Binder syndrome. ( 19061792 )
2008
12
Long-term behavior of three different grafts in nasomaxillary reconstruction of binder syndrome: an analysis by digitalized measurements. ( 18971737 )
2008
13
The Binder syndrome: review of the literature and case report. ( 18691769 )
2008
14
A different look: 3-dimensional facial imaging of a child with Binder syndrome. ( 18005847 )
2007
15
Maxillo-nasal dysplasia (binder syndrome): antenatal discovery and implications. ( 15980645 )
2005
16
Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency. ( 15751048 )
2005
17
Maxillonasal dysplasia (Binder syndrome): a lateral cephalometric assessment. ( 12462685 )
2002
18
Probable case of Binder syndrome in a skeleton from Quarai, New Mexico. ( 12124916 )
2002
19
The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report. ( 11169356 )
2000
20
Binder syndrome: literature review and long-term follow-up on two cases. ( 9558535 )
1998
21
Binder syndrome: staging of reconstruction and skeletal stability and relapse patterns after LeFort I osteotomy using miniplate fixation. ( 9091941 )
1997
22
Binder syndrome in a mother and her son. ( 9327267 )
1997
23
The craniofacial morphology in persons with maxillonasal dysplasia (Binder syndrome). A longitudinal cephalometric study of orthodontically treated children. ( 2916471 )
1989
24
Maxillonasal dysostosis (Binder syndrome); a review of the literature and case reports. ( 3860389 )
1985
25
Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine. ( 6507129 )
1984
26
Posteroanterior traction in maxillonasal dysplasia (Binder syndrome). A roentgen stereometric study with the aid of metallic implants. ( 6960698 )
1982
27
Therapeutic aspects of maxillonasal dysostosis (Binder syndrome). ( 7461980 )
1981
28
Craniospinal and cervicospinal malformations associated with maxillonasal dysostosis (Binder syndrome). ( 7440179 )
1980
29
Clinical and radiologic aspects of maxillonasal dysostosis (Binder syndrome). ( 7440178 )
1980

Variations for Maxillonasal Dysplasia, Binder Type

Expression for Maxillonasal Dysplasia, Binder Type

Search GEO for disease gene expression data for Maxillonasal Dysplasia, Binder Type.

Pathways for Maxillonasal Dysplasia, Binder Type

GO Terms for Maxillonasal Dysplasia, Binder Type

Biological processes related to Maxillonasal Dysplasia, Binder Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.67 ALX3 F2 SATB2 SHH
2 blood coagulation GO:0007596 9.48 F2 SHH
3 roof of mouth development GO:0060021 9.46 SATB2 SHH
4 pattern specification process GO:0007389 9.43 ALX3 SHH
5 embryonic skeletal system morphogenesis GO:0048704 9.4 ALX3 SATB2
6 embryonic forelimb morphogenesis GO:0035115 9.32 ALX3 SHH
7 embryonic hindlimb morphogenesis GO:0035116 9.26 ALX3 SHH
8 embryonic pattern specification GO:0009880 9.16 SATB2 SHH
9 regulation of gene expression GO:0010468 9.13 F2 SATB2 SHH
10 osteoblast development GO:0002076 8.62 SATB2 SHH

Sources for Maxillonasal Dysplasia, Binder Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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