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Bifid nose

MedGen UID:
66379
Concept ID:
C0221363
Congenital Abnormality; Finding
Synonyms: Bifid nasal bridge; Cleft nasal bridge; Cleft nose; Indented bridge of nose
SNOMED CT: Bifid nose (787413007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
HPO: HP:0011803
Monarch Initiative: MONDO:0000110
OMIM®: 210400
Orphanet: ORPHA2695

Definition

Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. [from HPO]

Term Hierarchy

Conditions with this feature

Hypertelorism, microtia, facial clefting syndrome
MedGen UID:
113104
Concept ID:
C0220742
Disease or Syndrome
A very rare syndrome with characteristics of the combination of hypertelorism, cleft lip and palate and microtia. Nine cases have been reported in the literature in seven families. Some patients have associated cardiac or renal congenital malformations. Short stature and intellectual deficiency are common. The reported cases support autosomal recessive inheritance.
Holoprosencephaly 7
MedGen UID:
372134
Concept ID:
C1835820
Disease or Syndrome
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Hydrolethalus syndrome 1
MedGen UID:
343455
Concept ID:
C1856016
Disease or Syndrome
Hydrolethalus-1 (HLS1) is an autosomal recessive lethal malformation syndrome characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia, and polydactyly. Various other features such as cleft lip or palate, club feet, anomalies of the ears, eyes, and nose, keyhole-shaped defect in the occipital bone, abnormal genitalia, and congenital heart and respiratory organ defects have also been observed in affected individuals. Affected individuals are stillborn or die shortly after birth (summary by Mee et al., 2005). Genetic Heterogeneity of Hydrolethalus Syndrome See also HLS2 (614120), caused by mutation in the KIF7 gene (611254) on chromosome 15q26.
Acromelic frontonasal dysostosis
MedGen UID:
350933
Concept ID:
C1863616
Disease or Syndrome
Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, 136760), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.
BNAR syndrome
MedGen UID:
413305
Concept ID:
C2750433
Disease or Syndrome
FREM1 autosomal recessive disorders include: Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and isolated congenital anomalies of kidney and urinary tract (CAKUT). MOTA syndrome is characterized by an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye) and anomalies of the eyes (widely spaced eyes, anophthalmia/microphthalmia and/or cryptophthalmos, colobomas of the upper eyelid, and corneopalpebral synechiae), nose (bifid or broad nasal tip), abdominal wall (omphalocele or umbilical hernia), and anus (stenosis and/or anterior displacement of the anal opening). The manifestations and degree of severity vary even among affected members of the same family. Growth and psychomotor development are normal. BNAR syndrome is characterized by a bifid or wide nasal tip, anorectal anomalies, and renal malformations (e.g., renal agenesis, renal dysplasia). Typically the eye manifestations of MOTA syndrome are absent. FREM1-CAKUT was identified in one individual with bilateral vesicoureteral reflux (VUR) and a second individual with VUR and renal hypodysplasia.
Gollop syndrome
MedGen UID:
444125
Concept ID:
C2931720
Disease or Syndrome
The features of frontofacionasal dysplasia include blepharophimosis, lower lid lagophthalmos, primary telecanthus, S-shaped palpebral fissures, facial hypoplasia, eyelid coloboma, widow's peak, cranium bifidum occultum, frontal lipoma, nasal hypoplasia, deformed nostrils, bifid nose, and cleft of lip, premaxilla, palate, and uvula (White et al., 1991). Also see frontonasal dysplasia (136760).
Hypogonadotropic hypogonadism 9 with or without anosmia
MedGen UID:
766756
Concept ID:
C3553842
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
MedGen UID:
1794140
Concept ID:
C5561930
Disease or Syndrome
X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies (MRXSPF) is characterized by a phenotypic triad of severe developmental delay, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females (Villegas et al., 2019; Diaz et al., 2020).
Anencephaly 2
MedGen UID:
1794155
Concept ID:
C5561945
Congenital Abnormality
Anencephaly-2 (ANPH2) is a severe neural tube defect caused by failure of neural tube closure anteriorly. Features in addition to anencephaly may include frontonasal dysplasia with midline cleft of the upper lip and alveolar ridge, bifid nose, and clinical anophthalmia. For a discussion of genetic heterogeneity of anencephaly, see ANPH1 (206500).
Frontorhiny
MedGen UID:
1803615
Concept ID:
C5574965
Congenital Abnormality
A distinct syndromic type of frontonasal malformation with characteristics of hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.

Professional guidelines

PubMed

Das D, Modaboyina S, Raj S, Agrawal S, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2559-2563. doi: 10.4103/ijo.IJO_2627_21. PMID: 35791156Free PMC Article

Recent clinical studies

Therapy

Wang Y, Yu B, Dai C, Wei J
Facial Plast Surg Aesthet Med 2023 May-Jun;25(3):238-243. Epub 2022 Jul 19 doi: 10.1089/fpsam.2022.0077. PMID: 35856821
Tawfik A, El-Sisi HE, Abd El-Fattah AM
Int J Pediatr Otorhinolaryngol 2016 Jul;86:72-6. Epub 2016 Apr 20 doi: 10.1016/j.ijporl.2016.04.004. PMID: 27260584
Miller PJ, Grinberg D, Wang TD
Arch Facial Plast Surg 1999 Jul-Sep;1(3):200-3. doi: 10.1001/archfaci.1.3.200. PMID: 10937104

Prognosis

Han J, Baek RM, Kim BK
Ann Plast Surg 2017 Jul;79(1):28-33. doi: 10.1097/SAP.0000000000000934. PMID: 27845961
Wang H, Fan F, You J, Wang S
J Craniofac Surg 2012 Sep;23(5):1378-81. doi: 10.1097/SCS.0b013e318252fd09. PMID: 22948647
Hassani E, Karimi H, Hassani A
J Pediatr Surg 2011 Oct;46(10):E9-13. doi: 10.1016/j.jpedsurg.2011.06.026. PMID: 22008362
Schlosser RJ, Faust RA, Phillips CD, Gross CW
Int J Pediatr Otorhinolaryngol 2002 Sep 2;65(2):125-31. doi: 10.1016/s0165-5876(02)00147-7. PMID: 12176182
Miller PJ, Grinberg D, Wang TD
Arch Facial Plast Surg 1999 Jul-Sep;1(3):200-3. doi: 10.1001/archfaci.1.3.200. PMID: 10937104

Clinical prediction guides

de Almeida IG Jr, Kuratani DK, Gomes LM, Fiegenbaum M, Estima Correia EP, Gazzola Zen PR, Machado Rosa RF
Eur J Med Genet 2020 Feb;63(2):103641. Epub 2019 Mar 17 doi: 10.1016/j.ejmg.2019.03.005. PMID: 30894326
Kang S, Imai K, Masuoka T, Sakahara D, Kawamoto K, Tsumoto J
J Craniofac Surg 2019 Jan;30(1):19-22. doi: 10.1097/SCS.0000000000004891. PMID: 30418287
Huang H, Luo X, Cheng X, Zhang Z, Ma G, Shi B, Li J
J Craniofac Surg 2018 Nov;29(8):2220-2225. doi: 10.1097/SCS.0000000000005024. PMID: 30339602
Ferrarini A, Gaillard M, Guerry F, Ramelli G, Heidi F, Keddache CV, Wieland I, Beckmann JS, Jaquemont S, Martinet D
Am J Med Genet A 2014 Feb;164A(2):346-52. Epub 2013 Dec 13 doi: 10.1002/ajmg.a.36140. PMID: 24376213
Agarwal R, Chandra R
J Craniofac Surg 2012 Sep;23(5):1349-54. doi: 10.1097/SCS.0b013e31826467e5. PMID: 22948620

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