MCID: BFD005
MIFTS: 28

Bifid Nose, Autosomal Recessive

Categories: Bone diseases, Fetal diseases, Rare diseases, Smell/Taste diseases
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Aliases & Classifications for Bifid Nose, Autosomal Recessive

MalaCards integrated aliases for Bifid Nose, Autosomal Recessive:

Name: Bifid Nose, Autosomal Recessive 57
Bifid Nose 19 58 75 33
Median Fissure of Nose 57 19 5
Nose, Median Cleft of 57 19
Congenital Notching of Tip of Nose 33
Fissured, Notched and Cleft Nose 33
Congenital Fissure of Nose 33
Congenital Notching Nose 33
Congenital Cleft Nose 33
Fissure of Nose 33
Cleft Nose 33

Characteristics:


Inheritance:

Bifid Nose, Autosomal Recessive: Autosomal recessive 57
Bifid Nose: Autosomal dominant,Autosomal recessive 58

Age Of Onset:

Bifid Nose: Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 210400
MESH via Orphanet 44 C535441
ICD10 via Orphanet 32 Q30.2
UMLS via Orphanet 72 C0221363
Orphanet 58 ORPHA2695
MedGen 40 C3887497
SNOMED-CT via HPO 69 194021007 204521002 22006008
ICD11 33 1824850646

Summaries for Bifid Nose, Autosomal Recessive

GARD: 19 A Bifid nose is a relatively uncommon malformation that is characterized by the nose being divided into two parts. There is a large degree of variability in the severity of the condition, ranging from a minimally noticeable groove down the center of the nasal tip to a complete clefting of the underlying bones and cartilage, resulting in 2 complete half noses. It is often associated with hypertelorbitism and midline clefts of the lip. The airway usually is adequate despite the cosmetic appearance associated with the condition. Both autosomal recessive and autosomal dominant inheritance of a Bifid nose has been observed. It may also occur with frontonasal dysplasia (a condition in with several possible findings limited to the head and neck), for which several inheritance patterns have been reported.

MalaCards based summary: Bifid Nose, Autosomal Recessive, also known as bifid nose, is related to bifid nose with or without anorectal and renal anomalies and trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet. Affiliated tissues include skin, eye and kidney, and related phenotypes are bifid nose and hypertelorism

Orphanet: 58 Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.

Wikipedia: 75 A bifid nose (also known as cleft nose) is an uncommon congenital malformation which is characterized by... more...

More information from OMIM: 210400

Related Diseases for Bifid Nose, Autosomal Recessive

Diseases in the Bifid Nose, Autosomal Dominant family:

Bifid Nose, Autosomal Recessive

Diseases related to Bifid Nose, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 bifid nose with or without anorectal and renal anomalies 11.8
2 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.8
3 bifid nose, autosomal dominant 11.2
4 frontonasal dysplasia-bifid nose-upper limb anomalies syndrome 11.2
5 oculoauriculofrontonasal syndrome 11.2
6 anencephaly 2 11.2
7 manitoba oculotrichoanal syndrome 11.1
8 frontofacionasal dysplasia 11.0
9 median cleft of the upper lip and maxilla 10.9
10 hypertelorism 10.3
11 cleft lip/palate 10.2
12 cleft lip 10.2
13 facial cleft 10.2
14 nose and cavum anomaly 10.2
15 cleft palate, isolated 10.1
16 cartilage disease 10.1
17 frontonasal dysplasia 1 10.1
18 lipomatosis, multiple 10.1
19 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 10.1
20 renal hypodysplasia/aplasia 1 10.1
21 anus, imperforate 10.1
22 fraser syndrome 1 10.1
23 alar cleft, isolated 10.1
24 frem1 autosomal recessive disorders 10.1
25 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.9
26 corpus callosum, agenesis of 9.9
27 corpus callosum, partial agenesis of, x-linked 9.9
28 macrostomia, isolated 9.9
29 immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation 9.9
30 renal hypodysplasia/aplasia 3 9.9
31 alopecia 9.9
32 encephalocele 9.9
33 hypotonia 9.9
34 epignathus 9.9
35 vaginal atresia 9.9
36 renal dysplasia 9.9
37 parietal foramina 1 9.9
38 fanconi anemia, complementation group e 9.9
39 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 9.9
40 parietal foramina 9.9

Graphical network of the top 20 diseases related to Bifid Nose, Autosomal Recessive:



Diseases related to Bifid Nose, Autosomal Recessive

Symptoms & Phenotypes for Bifid Nose, Autosomal Recessive

Human phenotypes related to Bifid Nose, Autosomal Recessive:

58 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bifid nose 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011803
2 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
3 midline defect of the nose 30 HP:0004122

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Nose:
bifid nose

Clinical features from OMIM®:

210400 (Updated 24-Oct-2022)

Drugs & Therapeutics for Bifid Nose, Autosomal Recessive

Search Clinical Trials, NIH Clinical Center for Bifid Nose, Autosomal Recessive

Genetic Tests for Bifid Nose, Autosomal Recessive

Anatomical Context for Bifid Nose, Autosomal Recessive

Organs/tissues related to Bifid Nose, Autosomal Recessive:

MalaCards : Skin, Eye, Kidney, Bone

Publications for Bifid Nose, Autosomal Recessive

Articles related to Bifid Nose, Autosomal Recessive:

(show top 50) (show all 156)
# Title Authors PMID Year
1
Hypertelorism and the bifid nose. 62 57
5935148 1966
2
The bifid nose. With a report of 3 cases in siblings. 62 57
5845694 1965
3
Facial Angles in Arabian Women Seeking Rhinoplasty. 62
36217229 2022
4
Correction of severe bifid nose deformity using an open W-shaped incision. 62
35941033 2022
5
"Primary Correction of the Cleft Nasal Septum: A Systematic Review". 62
36120835 2022
6
Satisfaction survey of secondary rhinoplasty among unilateral cleft lip and palate patients. 62
35934555 2022
7
Unilateral cleft nose deformities at adulthood. 62
35927106 2022
8
Surgical Correction of a Bifid Nose Deformity with a Split M-Shaped Flap. 62
35856821 2022
9
Clinical features and orbital anomalies in Fraser syndrome and a review of management options. 62
35791156 2022
10
A Single Stage Composite Cleft Septorhinoplasty for Correction of the Mature Unilateral Cleft Nose Deformity - The Gujrat Technique. 62
35234518 2022
11
The Operation Rainbow Canada Technique for Unilateral Cleft Lip Revision. 62
35096691 2022
12
Craniofacial development in patients of Tessier No.0 cleft with a bifid nose using 3D computed tomography. 62
36090555 2022
13
Component Restoration in the Bilateral Intermediate Cleft Tip Rhinoplasty. 62
34398093 2021
14
Cartilage Grafting Outcomes in Intermediate and Definitive Cleft Rhinoplasty. 62
33356509 2021
15
Update in Unilateral Cleft Lip Surgery. 62
34398098 2021
16
Application of Diced Autologous Rib Cartilage for Paranasal Augmentation in Cleft Nose. 62
33200239 2021
17
An anatomical composite nasal lining subunit technique in primary cleft nose correction. 62
33855147 2021
18
Invited Discussion on: Application of Diced Autologous Rib Cartilage for Paranasal Augmentation in Cleft Nose. 62
33483781 2021
19
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly. 62
33038106 2021
20
Diced Cartilage Rhinoplasty for Cleft Nose Deformities: Determining the Flexibility of the Cartilage Framework. 62
33443880 2021
21
Facial cleft? The first case of manitoba-oculo-tricho-anal syndrome with novel mutations in China: a case report. 62
33478401 2021
22
Morphological Analysis of Nose in Patients of Tessier No. 0 Cleft With a Bifid Nose in China. 62
34912760 2021
23
Reducing the Cleft Nose Deformity in Bilateral Cleft Lip Repair. 62
33425627 2020
24
Bilateral Complete Cleft Lip Repair: A Step-by-Step Video Series. 62
33234968 2020
25
Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition. 62
32926405 2020
26
Management of the Nasal Deformity in the Unilateral Cleft of the Lip and Nose. 62
32801524 2020
27
Rhinoplasty in secondary nasal deformities: Subjective and objective outcome evaluation. 62
33897179 2020
28
Rotational Composite Flap Technique for Primary Incomplete Cleft Nose Deformity. 62
32766038 2020
29
Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. 62
30894326 2020
30
Three Dimensional Rhinoplasty and Nasal Airway Improvement in Cleft-Nose Deformity. 62
31750112 2019
31
An Analysis of Aesthetic Refinements in 120 Secondary Cleft Rhinoplasties. 62
31524737 2019
32
Rotation Advancement in Cleft Nose Rhinoplasty-Buccal Mucosal Grafts Serves as a Powerful Tool. 62
30213199 2019
33
Rare Median Cleft-Lip Repair With Novel Surgical Procedures Using Bilateral Cleft Margin Flaps. 62
30418287 2019
34
Approach to Half-Nose and Proboscis Lateralis. 62
30320674 2018
35
Recapitulation of Unilateral Cleft Lip Nasal Deformity on Normal Nasal Structure: A Finite Element Model Analysis. 62
30339602 2018
36
Open Rhinoplasty Using Concealing Incisions for Mild Bifid Nose With Unilateral Mini-Microform Cleft Lip. 62
29543682 2018
37
Rotational Advancement in Cleft Nose Rhinoplasty - Buccal Mucosal Grafts Serve as a Powerful Tool. 62
28072550 2018
38
Categorizing facial creases: A review. 62
28145033 2017
39
Component columella augmentation in cleft nose rhinoplasty: a preliminary study. 62
28094096 2017
40
The Real Origin of Presurgical Nasal Molding for Cleft Nose Deformity and its Posterior Evolution. 62
28060102 2017
41
Intermediate and Definitive Cleft Rhinoplasty. 62
27712816 2016
42
Surgical correction of bifid nose. 62
27260584 2016
43
Upper Triangular Flap in Unilateral Cleft Lip Repair. 62
26982113 2016
44
Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1. 62
26208246 2016
45
Cleft Lip Nose. 62
26616710 2016
46
A modified nasoalveolar molding technique for correction of unilateral cleft nose deformity. 62
26541749 2015
47
Secondary cleft nose rhinoplasty: Subjective and objective outcome evaluation. 62
26412642 2015
48
Midline Cleft Lip and Bifid Nose Deformity: Description, Classification, and Treatment. 62
26594965 2015
49
Columella Lengthening with a Full-Thickness Skin Graft for Secondary Bilateral Cleft Lip and Nose Repair. 62
26618116 2015
50
Eye tracker based study: Perception of faces with a cleft lip and nose deformity. 62
26298551 2015

Variations for Bifid Nose, Autosomal Recessive

ClinVar genetic disease variations for Bifid Nose, Autosomal Recessive:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLI2 NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr) SNV Uncertain Significance
1065336 GRCh37: 2:121747325-121747325
GRCh38: 2:120989749-120989749

Expression for Bifid Nose, Autosomal Recessive

Search GEO for disease gene expression data for Bifid Nose, Autosomal Recessive.

Pathways for Bifid Nose, Autosomal Recessive

GO Terms for Bifid Nose, Autosomal Recessive

Sources for Bifid Nose, Autosomal Recessive

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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