MCID: MXL016
MIFTS: 31

Maxillonasal Dysplasia, Binder Type

Categories: Ear diseases, Fetal diseases, Oral diseases, Rare diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Maxillonasal Dysplasia, Binder Type

MalaCards integrated aliases for Maxillonasal Dysplasia, Binder Type:

Name: Maxillonasal Dysplasia, Binder Type 57 73 20 44 70
Binder Syndrome 57 12 20 58 15
Binder Type Maxillonasal Dysplasia 12
Maxillonasal Dysostosis 58
Maxillonasal Dysplasia 58

Characteristics:

Orphanet epidemiological data:

58
maxillonasal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
heterogeneous
autosomal dominant vs. multifactorial


HPO:

31
maxillonasal dysplasia, binder type:
Inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14683
OMIM® 57 155050
MeSH 44 C536036
SNOMED-CT 67 715985008
ICD10 via Orphanet 33 Q75.8
UMLS via Orphanet 71 C0220692 C3888567
Orphanet 58 ORPHA1248
MedGen 41 C0220692
UMLS 70 C0220692

Summaries for Maxillonasal Dysplasia, Binder Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1248 Definition Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. Epidemiology Binder syndrome occurs in less than one birth in 10,000 but is probably underdiagnosed. Clinical description Affected 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. Etiology The etiology and pathogenesis of Binder syndrome remains uncertain. Differential diagnosis Phenocopies 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 diagnosis Prenatal diagnosis by two and three-dimensional ultrasound is possible (visualization of flat profile; bone hypoplasia) from 20-22 weeks of gestation. Genetic counseling Most 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 treatment Since the degree of malformation in Binder syndrome varies significantly, surgical correction (orthodontic, plastic surgery) needs to be tailored individually.

MalaCards based summary : Maxillonasal Dysplasia, Binder Type, also known as binder syndrome, is related to dysostosis and keutel syndrome. An important gene associated with Maxillonasal Dysplasia, Binder Type is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4). Affiliated tissues include bone and skin, and related phenotypes are depressed nasal bridge and short nose

Wikipedia : 73 Binder's Syndrome/Binder Syndrome (Maxillo-Nasal Dysplasia) is a developmental disorder primarily... more...

More information 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 24)
# Related Disease Score Top Affiliating Genes
1 dysostosis 10.2
2 keutel syndrome 10.0
3 warfarin syndrome 10.0
4 hypertelorism 10.0
5 chondrodysplasia punctata syndrome 10.0
6 x-linked chondrodysplasia punctata 1 10.0
7 cleft lip 10.0
8 cleft palate, isolated 9.8
9 strabismus 9.8
10 branchiootic syndrome 1 9.8
11 bone resorption disease 9.8
12 stickler syndrome 9.8
13 osteomyelitis 9.8
14 juvenile glaucoma 9.8
15 vitamin k deficiency bleeding 9.8
16 goiter 9.8
17 cellulitis 9.8
18 mechanical strabismus 9.8
19 growth hormone deficiency 9.8
20 depression 9.8
21 cleft lip/palate 9.8
22 metal metabolism disorder 9.6 SCN4A F2
23 heart conduction disease 9.5 SCN4A F2
24 migraine with or without aura 1 9.4 SCN4A F2

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

Human phenotypes related to Maxillonasal Dysplasia, Binder Type:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
2 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
3 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
4 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
5 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
6 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
7 short columella 58 31 hallmark (90%) Very frequent (99-80%) HP:0002000
8 low levels of vitamin k 58 31 hallmark (90%) Very frequent (99-80%) HP:0011892
9 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
10 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
11 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
12 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
13 striae distensae 58 31 frequent (33%) Frequent (79-30%) HP:0001065
14 reduced number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0009804
15 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
16 patchy distortion of vertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0004609
17 abnormality of the nares 58 31 frequent (33%) Frequent (79-30%) HP:0005288
18 vertebral clefting 58 31 frequent (33%) Frequent (79-30%) HP:0008428
19 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
20 aplasia/hypoplasia of the distal phalanges of the toes 58 31 occasional (7.5%) Occasional (29-5%) HP:0010185
21 dental malocclusion 31 HP:0000689
22 large earlobe 31 HP:0009748

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Bone, Skin

Publications for Maxillonasal Dysplasia, Binder Type

Articles related to Maxillonasal Dysplasia, Binder Type:

(show top 50) (show all 66)
# Title Authors PMID Year
1
Binder syndrome in a mother and her son. 61 57
9327267 1997
2
Familial variant of maxillonasal dysplasia? 57 61
3771740 1986
3
Naso-maxillary deformity due to frontonasal expression of human transthyretin gene in transgenic mice. 57
12354101 2002
4
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. 57
9916809 1999
5
Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata. 57
1842210 1991
6
Maxillonasal dysplasia (Binder's syndrome) 57
2359101 1990
7
An etiologic study of maxillonasal dysplasia--Binder's syndrome. 57
3422508 1988
8
Maxillonasal dysplasia (Binder's syndrome). 57
432334 1979
9
Hypoplasia of the middle third of the face associated with congenital absence of the anterior nasal spine, depression of the nasal bones, and angle class III malocclusion. 57
13961673 1963
10
Secondary Rhinoplasty in Binder Syndrome: Considerations and Management of Complex Problem With Heterologous Bone Graft. 61
32694479 2021
11
Simulation Surgery Using 3D 3-layer Models for Congenital Anomaly. 61
32983813 2020
12
Fetal dental panorama on three-dimensional ultrasound imaging of cleft lip and palate and other facial anomalies. 61
30132143 2019
13
Binder syndrome: a phenotype rather than a definitive diagnosis? 61
30084160 2019
14
Orthognathic Surgery and Rhinoplasty to Address Nasomaxillary Hypoplasia. 61
29068927 2017
15
Comparison of Two Different Grafts in Nasal Framework Reconstruction of Binder Syndrome: Cartilage and Silicone. 61
28796097 2017
16
Nasal reconstruction in Binder syndrome. 61
26541235 2017
17
Binder syndrome: Clinical findings and surgical treatment of 18 patients at the Department of Plastic Surgery in Polanica Zdrój. 61
28791817 2017
18
[Comparison of costochondral nasal framework reconstruction and silicone graft implantation in improving the midface depression of Binder syndrome]. 61
30067010 2016
19
Anteriorly Based Galeo-Pericranial Frontalis Flap: A Novel Application in Secondary Rhinoplasty With Atrophic Skin. 61
26890462 2016
20
Prenatal diagnosis of Binder's syndrome: report of two cases. 61
27132430 2016
21
CT and MRI of congenital nasal lesions in syndromic conditions. 61
25573243 2015
22
Orthodontic Treatment of Binder Syndrome: A Case Report With 5 Years of Follow-up. 61
25191869 2015
23
[Primary report of single rib-cartilage recombination transplantation in Binder syndrome treatment]. 61
25112006 2014
24
Partial trisomy of the pericentromeric region of chromosome 5 in a girl with binder phenotype. 61
25531548 2014
25
A long-term evaluation of 150 costochondral nasal grafts. 61
23910911 2013
26
A novel single-rib recombination method in binder syndrome treatment. 61
23241759 2013
27
Modified nasomaxillary and hard palatine osteotomy combined nasal implantation to correct Binder syndrome. 61
23348286 2013
28
Binder syndrome. 61
22777437 2012
29
Oral and craniofacial findings of Binder syndrome: two case reports. 61
21309654 2012
30
Maxillonasal osteochondral complex repair in maxillonasal dysplasia. 61
22134285 2011
31
Binder's syndrome. 61
22675013 2011
32
Surgical management of binder syndrome: lessons learned. 61
20972568 2010
33
Nasal reconstruction for maxillonasal dysplasia. 61
20216441 2010
34
Alar augmentation in the management of Binder syndrome. 61
19644297 2009
35
A different look at treating a patient with Binder syndrome. 61
19061792 2008
36
Long-term behavior of three different grafts in nasomaxillary reconstruction of binder syndrome: an analysis by digitalized measurements. 61
18971737 2008
37
The Binder syndrome: review of the literature and case report. 61
18691769 2008
38
Nasomaxillary reconstruction in Binder syndrome: bone versus cartilage grafts. A long-term intercenter comparison between Sweden and Mexico. 61
18812845 2008
39
Case report and surgical solution for nasal spine agenesis in a woman with Binder syndrome. 61
18060555 2008
40
A different look: 3-dimensional facial imaging of a child with Binder syndrome. 61
18005847 2007
41
[Binder's syndrome--symptoms and treatment]. 61
16903341 2006
42
Maxillo-nasal dysplasia (binder syndrome): antenatal discovery and implications. 61
15980645 2005
43
Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency. 61
15751048 2005
44
Transmaxillary osteogenesis distraction combined with orthopedics and orthodontics in the correction of a severe retrusion of the upper maxilla. 61
15346019 2004
45
Common craniofacial anomalies: the facial dysostoses. 61
12447054 2002
46
Maxillonasal dysplasia (Binder syndrome): a lateral cephalometric assessment. 61
12462685 2002
47
Probable case of Binder syndrome in a skeleton from Quarai, New Mexico. 61
12124916 2002
48
[Maxillonasal dysplasia, Binder type]. 61
11528670 2001
49
The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report. 61
11169356 2000
50
Binder syndrome: literature review and long-term follow-up on two cases. 61
9558535 1998

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

Molecular functions related to Maxillonasal Dysplasia, Binder Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 8.96 F2 AMH
2 growth factor activity GO:0008083 8.62 F2 AMH

Sources for Maxillonasal Dysplasia, Binder Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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