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Choanal stenosis

MedGen UID:
108427
Concept ID:
C0584837
Finding; Finding
Synonyms: Coanal stenosis; Narrowing of the rear opening of the nasal cavity
SNOMED CT: Choanal stenosis (306963008)
 
HPO: HP:0000452

Definition

Abnormal narrowing of the choana (the posterior nasal aperture). [from HPO]

Conditions with this feature

Acrocephalosyndactyly type I
MedGen UID:
7858
Concept ID:
C0001193
Congenital Abnormality
The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
Marshall-Smith syndrome
MedGen UID:
75551
Concept ID:
C0265211
Disease or Syndrome
The Marshall-Smith syndrome is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia (Adam et al., 2005).
Schinzel-Giedion syndrome
MedGen UID:
120517
Concept ID:
C0265227
Disease or Syndrome
Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia (summary by Hoischen et al., 2010).
Metaphyseal chondrodysplasia, Jansen type
MedGen UID:
120529
Concept ID:
C0265295
Disease or Syndrome
The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002).
Baller-Gerold syndrome
MedGen UID:
120532
Concept ID:
C0265308
Disease or Syndrome
Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.
Lenz-Majewski hyperostosis syndrome
MedGen UID:
98483
Concept ID:
C0432269
Congenital Abnormality
Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014).
Deletion of long arm of chromosome 18
MedGen UID:
96605
Concept ID:
C0432443
Disease or Syndrome
A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.
Johnson neuroectodermal syndrome
MedGen UID:
167092
Concept ID:
C0796002
Disease or Syndrome
Johnson neuroectodermal syndrome has characteristics of alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal and hypogonadotropic hypogonadism. So far, less than 30 cases have been described in the literature. Other variable features include a congenital heart defect, facial asymmetry, intellectual deficit, cleft palate, choanal stenosis and an increased tendency for dental caries. The syndrome is transmitted as an autosomal dominant trait. The combination of developmental anomalies present in patients with this syndrome is suggestive of an embryological defect in the formation of the neuroectodermal derivatives of cephalic neural crest.
Duane-radial ray syndrome
MedGen UID:
301647
Concept ID:
C1623209
Disease or Syndrome
SALL4-related disorders include Duane-radial ray syndrome (DRRS, Okihiro syndrome), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS), three phenotypes previously thought to be distinct entities: DRRS is characterized by uni- or bilateral Duane anomaly and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs, hypoplasia or aplasia of the radii, shortening and radial deviation of the forearms, triphalangeal thumbs, and duplication of the thumb (preaxial polydactyly). AROS is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), ocular coloboma, and Duane anomaly. Rarely, pathogenic variants in SALL4 may cause clinically typical HOS (i.e., radial ray malformations and cardiac malformations without additional features).
Marden Walker like syndrome
MedGen UID:
322127
Concept ID:
C1833136
Disease or Syndrome
Van den Ende-Gupta syndrome is an autosomal recessive disorder characterized by severe contractual arachnodactyly from birth and distinctive facial dysmorphism, including triangular face, malar hypoplasia, narrow nose, everted lips, and blepharophimosis. Skeletal anomalies include slender ribs, hooked clavicles, and dislocated radial head. There is no neurologic involvement (summary by Patel et al., 2014).
Raine syndrome
MedGen UID:
342416
Concept ID:
C1850106
Disease or Syndrome
Raine syndrome is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death within the first few weeks of life, although there have been some reports of survival into childhood. Radiographic studies show a generalized increase in the density of all bones and a marked increase in the ossification of the skull. The increased ossification of the basal structures of the skull and facial bones underlies the characteristic facial features, which include narrow prominent forehead, proptosis, depressed nasal bridge, and midface hypoplasia. Periosteal bone formation is also characteristic of this disorder and differentiates it from osteopetrosis and other known lethal and nonlethal osteosclerotic bone dysplasias. The periosteal bone formation typically extends along the diaphysis of long bones adjacent to areas of cellular soft tissue (summary by Simpson et al., 2009).
Cutis Gyrata syndrome of Beare and Stevenson
MedGen UID:
377668
Concept ID:
C1852406
Disease or Syndrome
The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
Hypomandibular faciocranial dysostosis
MedGen UID:
343427
Concept ID:
C1855848
Congenital Abnormality
Hypomandibular faciocranial syndrome consists of craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, severe mandibular hypoplasia, and various extracephalic anomalies (summary by Gorlin et al., 2001).
Craniodiaphyseal dysplasia, autosomal dominant
MedGen UID:
382678
Concept ID:
C2675746
Disease or Syndrome
Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).
Choanal atresia with radial ray hypoplasia
MedGen UID:
419083
Concept ID:
C2931464
Disease or Syndrome
An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait.
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
MedGen UID:
422448
Concept ID:
C2936791
Disease or Syndrome
Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
MedGen UID:
461449
Concept ID:
C3150099
Disease or Syndrome
Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.
Treacher Collins syndrome 2
MedGen UID:
462333
Concept ID:
C3150983
Disease or Syndrome
Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal.
Cryptophthalmos syndrome
MedGen UID:
1639061
Concept ID:
C4551480
Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.

Recent clinical studies

Etiology

Alon EE, Lipschitz N, Bedrin L, Gluck I, Talmi Y, Wolf M, Yakirevitch A
Otolaryngol Head Neck Surg 2014 Aug;151(2):354-8. Epub 2014 Apr 14 doi: 10.1177/0194599814530858. PMID: 24732689
Case AP, Mitchell LE
Am J Med Genet A 2011 Apr;155A(4):786-91. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33882. PMID: 21416593
Wang QY, Chai L, Wang SQ, Zhou SH, Lu YY
Arch Otolaryngol Head Neck Surg 2009 May;135(5):462-6. doi: 10.1001/archoto.2009.22. PMID: 19451467
Wang QY, Wang SQ, Lin S, Chen HH, Lu YY
Chin Med J (Engl) 2008 Jun 20;121(12):1101-4. PMID: 18706226
Shepard PM, Houser SM
Am J Rhinol 2005 Jan-Feb;19(1):105-8. PMID: 15794084

Diagnosis

Tzeng M, du Souich C, Cheung HW, Boerkoel CF
Am J Med Genet A 2014 Jul;164A(7):1808-14. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36533. PMID: 24700502Free PMC Article
Hussein J, Tan TS, Chong AW, Narayanan P, Omar R
Auris Nasus Larynx 2013 Jun;40(3):323-6. Epub 2012 May 30 doi: 10.1016/j.anl.2012.05.004. PMID: 22652485
Wang QY, Chai L, Wang SQ, Zhou SH, Lu YY
Arch Otolaryngol Head Neck Surg 2009 May;135(5):462-6. doi: 10.1001/archoto.2009.22. PMID: 19451467
Yuan HB, Poon KS, Chan KH, Lee TY, Lin CY
Int J Pediatr Otorhinolaryngol 1993 Aug;27(2):193-9. doi: 10.1016/0165-5876(93)90136-q. PMID: 8258488
Johnson KG
Rocky Mt Med J 1979 Mar-Apr;76(2):64-5. PMID: 432479

Therapy

Tomoum MO, Askar MH, Mandour MF, Amer MA, Saafan ME
J Laryngol Otol 2018 Apr;132(4):329-335. Epub 2018 Jan 16 doi: 10.1017/S0022215117002614. PMID: 29335043
Alon EE, Lipschitz N, Bedrin L, Gluck I, Talmi Y, Wolf M, Yakirevitch A
Otolaryngol Head Neck Surg 2014 Aug;151(2):354-8. Epub 2014 Apr 14 doi: 10.1177/0194599814530858. PMID: 24732689
Hussein J, Tan TS, Chong AW, Narayanan P, Omar R
Auris Nasus Larynx 2013 Jun;40(3):323-6. Epub 2012 May 30 doi: 10.1016/j.anl.2012.05.004. PMID: 22652485
Ku PK, Tong MC, Tsang SS, van Hasselt A
Am J Otolaryngol 2001 Jul-Aug;22(4):225-9. doi: 10.1053/ajot.2001.24816. PMID: 11464317
Yuan HB, Poon KS, Chan KH, Lee TY, Lin CY
Int J Pediatr Otorhinolaryngol 1993 Aug;27(2):193-9. doi: 10.1016/0165-5876(93)90136-q. PMID: 8258488

Prognosis

Eves D, O'Connor SJ, Boyle MA
J Pediatr Ophthalmol Strabismus 2018 Dec 19;55:e45-e48. doi: 10.3928/01913913-20181012-02. PMID: 30571838
Ramsden JD, Campisi P, Forte V
Otolaryngol Clin North Am 2009 Apr;42(2):339-52, x. doi: 10.1016/j.otc.2009.01.001. PMID: 19328897
Lee SC, Tang IP, Singh A, Kumar SS, Singh S
Auris Nasus Larynx 2009 Dec;36(6):709-11. Epub 2009 Mar 21 doi: 10.1016/j.anl.2009.02.002. PMID: 19304419
Wang QY, Wang SQ, Lin S, Chen HH, Lu YY
Chin Med J (Engl) 2008 Jun 20;121(12):1101-4. PMID: 18706226
Shepard PM, Houser SM
Am J Rhinol 2005 Jan-Feb;19(1):105-8. PMID: 15794084

Clinical prediction guides

Tomoum MO, Askar MH, Mandour MF, Amer MA, Saafan ME
J Laryngol Otol 2018 Apr;132(4):329-335. Epub 2018 Jan 16 doi: 10.1017/S0022215117002614. PMID: 29335043
Patel VA, Carr MM
Int J Pediatr Otorhinolaryngol 2017 Aug;99:78-84. Epub 2017 May 30 doi: 10.1016/j.ijporl.2017.05.023. PMID: 28688570
Alon EE, Lipschitz N, Bedrin L, Gluck I, Talmi Y, Wolf M, Yakirevitch A
Otolaryngol Head Neck Surg 2014 Aug;151(2):354-8. Epub 2014 Apr 14 doi: 10.1177/0194599814530858. PMID: 24732689
Case AP, Mitchell LE
Am J Med Genet A 2011 Apr;155A(4):786-91. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33882. PMID: 21416593
Haginomori S, Nonaka R, Takenaka H
Auris Nasus Larynx 2005 Dec;32(4):365-8. Epub 2005 Sep 1 doi: 10.1016/j.anl.2005.05.003. PMID: 16139978

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