MCID: BFD001
MIFTS: 21

Bifid Nose

Categories: Bone diseases, Fetal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Bifid Nose

MalaCards integrated aliases for Bifid Nose:

Name: Bifid Nose 53 59
Median Fissure of Nose 53
Nose, Median Cleft of 53

Characteristics:

Orphanet epidemiological data:

59
bifid nose
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

MESH via Orphanet 45 C535441
ICD10 via Orphanet 34 Q30.2
UMLS via Orphanet 73 C0221363
Orphanet 59 ORPHA2695

Summaries for Bifid Nose

NIH Rare Diseases : 53 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. Treatment typically consists of surgical reconstruction to repair the malformation.

MalaCards based summary : Bifid Nose, also known as median fissure of 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. An important gene associated with Bifid Nose is FREM1 (FRAS1 Related Extracellular Matrix 1). Affiliated tissues include bone, and related phenotypes are bifid nose and hypertelorism

Related Diseases for Bifid Nose

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



Diseases related to Bifid Nose

Symptoms & Phenotypes for Bifid Nose

Human phenotypes related to Bifid Nose:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bifid nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0011803
2 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316

Drugs & Therapeutics for Bifid Nose

Search Clinical Trials , NIH Clinical Center for Bifid Nose

Genetic Tests for Bifid Nose

Anatomical Context for Bifid Nose

MalaCards organs/tissues related to Bifid Nose:

41
Bone

Publications for Bifid Nose

Articles related to Bifid Nose:

(show all 48)
# Title Authors PMID Year
1
Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. 38
30894326 2019
2
Rare Median Cleft-Lip Repair With Novel Surgical Procedures Using Bilateral Cleft Margin Flaps. 38
30418287 2019
3
Open Rhinoplasty Using Concealing Incisions for Mild Bifid Nose With Unilateral Mini-Microform Cleft Lip. 38
29543682 2018
4
Categorizing facial creases: A review. 38
28145033 2017
5
Surgical correction of bifid nose. 38
27260584 2016
6
Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1. 38
26208246 2016
7
Midline Cleft Lip and Bifid Nose Deformity: Description, Classification, and Treatment. 38
26594965 2015
8
Report of a family with craniofrontonasal syndrome. 38
25486017 2015
9
Diagnostic imaging features of congenital nose and nasal cavity lesions. 38
25095909 2015
10
Midline nasal dermoid cyst with Tessier's 0 cleft. 38
25097442 2014
11
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. 38
24376213 2014
12
Bifid nose - a mild degree of frontonasal dysplasia. A case report. 38
23810549 2013
13
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. 38
23221805 2013
14
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome. 38
23401257 2013
15
Patient with oculo-facio-cardio-dental syndrome treated with surgical orthodontics. 38
22449596 2012
16
A novel de novo mutation within EFNB1 gene in a young girl with craniofrontonasal syndrome. 38
21385071 2012
17
Inferior encephalocele: transpalatal repair using paired costal bone grafts with a 14-year follow-up. 38
22008362 2011
18
Repair of a bifid nose combined with a cleft of the primary palate in a 1-year-old dog. 38
22380669 2011
19
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. 38
21507892 2011
20
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. 38
21484999 2011
21
Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism. 38
20453311 2010
22
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. 38
19732862 2009
23
Open approach via the nasal dorsum with dermal graft for bifid nose. 38
19816255 2009
24
Bifid nose with cleft hand deformity: syndromic association or undescribed anomaly? 38
19098558 2008
25
Surgical correction of Tessier number 0 cleft. 38
18812861 2008
26
FREM1 Autosomal Recessive Disorders 38
20301721 2008
27
Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum. 38
18369643 2008
28
Two siblings with an unusual nasal malformation: further instances of craniorhiny? 38
17963218 2007
29
Combined intraoral and nasal approach to Tessier No:0 cleft with bifid nose. 38
15655475 2005
30
Pai syndrome: an adult patient with bifid nose and frontal hairline marker. 38
12733964 2003
31
Three-dimensional computed tomography of congenital nasal anomalies. 38
12176182 2002
32
An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations. 38
11822703 2002
33
Midline cleft. Treatment of the bifid nose. 38
10937104 1999
34
Median cleft of the lip: its significance and surgical repair. 38
8418880 1993
35
Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia in sibs. 38
2063891 1991
36
[Rare congenital bifid nose deformity. A report of 3 cases]. 38
2514023 1989
37
Familial occurrence of a developmental defect of the medial nasal processes. 38
4003439 1985
38
Dominant inheritance of bifid nose. 38
6711607 1984
39
Sphenoethmoidal cephalocele with cleft palate: transpalatal versus transcranial repair. Report of two cases. 38
6854386 1983
40
[Embryologic problems raised by proboscis lateralis]. 38
6881825 1983
41
Epignathus and bifid nose: a report of a rare congenital anomaly. 38
4726107 1973
42
Hypertelorism and the bifid nose. 38
5935148 1966
43
The bifid nose. With a report of 3 cases in siblings. 38
5845694 1965
44
[CASE OF BIFID NOSE]. 38
14207370 1964
45
[Rare congenital malformation of the nose. (2 cases of bifid nose)]. 38
13896304 1961
46
Treatment of median cleft lip associated with bifid nose and hypertelorism. 38
14405033 1959
47
The surgical treatment of the bifid nose. 38
15430171 1950
48
Bifid nose associated with midline cleft of the upper lip. 38
21002094 1946

Variations for Bifid Nose

Expression for Bifid Nose

Search GEO for disease gene expression data for Bifid Nose.

Pathways for Bifid Nose

GO Terms for Bifid Nose

Sources for Bifid Nose

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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