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Stridor

MedGen UID:
11613
Concept ID:
C0038450
Sign or Symptom
Synonym: Stridors
SNOMED CT: Stridor (70407001); Stridulous breathing (70407001)
 
HPO: HP:0010307

Definition

Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. [from HPO]

Conditions with this feature

Marshall-Smith syndrome
MedGen UID:
75551
Concept ID:
C0265211
Disease or Syndrome
The Marshall-Smith syndrome (MRSHSS) 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).
Gaucher disease type II
MedGen UID:
78652
Concept ID:
C0268250
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.
Congenital laryngeal abductor palsy
MedGen UID:
96004
Concept ID:
C0396059
Congenital Abnormality
Laryngeal abductor paralysis is an autosomal dominant condition characterized by variable penetrance and expressivity ranging from mild symptoms to neonatal asphyxia. (summary by Morelli et al., 1982; Manaligod and Smith, 1998).
Scapuloperoneal spinal muscular atrophy
MedGen UID:
148283
Concept ID:
C0751335
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Brown-Vialetto-van Laere syndrome 1
MedGen UID:
163239
Concept ID:
C0796274
Disease or Syndrome
Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; 105400). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome See also BVVLS2 (614707), caused by mutation in the SLC52A2 gene (607882) on chromosome 8q.
Van den Ende-Gupta syndrome
MedGen UID:
322127
Concept ID:
C1833136
Disease or Syndrome
Van den Ende-Gupta syndrome (VDEGS) 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).
Sudden infant death-dysgenesis of the testes syndrome
MedGen UID:
332428
Concept ID:
C1837371
Disease or Syndrome
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is characterized by sudden cardiac or respiratory arrest, disordered testicular development, and neurologic dysfunction, and is uniformly fatal before 1 year of age (Slater et al., 2020).
Charcot-Marie-Tooth disease axonal type 2C
MedGen UID:
342947
Concept ID:
C1853710
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Camptomelic dysplasia
MedGen UID:
354620
Concept ID:
C1861922
Disease or Syndrome
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment.
Hypothyroidism, congenital, nongoitrous, 2
MedGen UID:
358389
Concept ID:
C1869118
Congenital Abnormality
Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nCongenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.
Potassium-aggravated myotonia
MedGen UID:
444151
Concept ID:
C2931826
Disease or Syndrome
In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.
Hereditary sensory and autonomic neuropathy type 6
MedGen UID:
761278
Concept ID:
C3539003
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type VI (HSAN6) is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).
Combined oxidative phosphorylation deficiency 19
MedGen UID:
816385
Concept ID:
C3810055
Disease or Syndrome
Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene.
Frontometaphyseal dysplasia 1
MedGen UID:
923943
Concept ID:
C4281559
Congenital Abnormality
The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata.
Congenital myasthenic syndrome 20
MedGen UID:
934661
Concept ID:
C4310694
Disease or Syndrome
Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by Bauche et al., 2016). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Frontometaphyseal dysplasia 2
MedGen UID:
934664
Concept ID:
C4310697
Disease or Syndrome
Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016). For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (305620).
Intellectual disability, autosomal dominant 42
MedGen UID:
934741
Concept ID:
C4310774
Mental or Behavioral Dysfunction
GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis.
Charcot-Marie-Tooth disease, axonal, Type 2HH
MedGen UID:
1794213
Concept ID:
C5562003
Disease or Syndrome
Axonal Charcot-Marie-Tooth disease type 2HH (CMT2HH) is an autosomal dominant peripheral neuropathy characterized predominantly by onset of vocal cord weakness resulting in stridor in infancy or early childhood. The vocal cord paresis remains throughout life and may be severe enough to require tracheostomy. Additional features of the disorder usually include pes cavus and scoliosis. Some patients have mild distal muscle weakness and atrophy primarily affecting the lower limbs, although the upper limbs may also be involved, and distal sensory impairment, often with hyporeflexia (Sullivan et al., 2020). For a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).
D,L-2-hydroxyglutaric aciduria
MedGen UID:
1802316
Concept ID:
C5574940
Disease or Syndrome
Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000). See also isolated L-2-hydroxyglutaric aciduria (236792) and isolated D-2-hydroxyglutaric aciduria (see 600721).
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
MedGen UID:
1823986
Concept ID:
C5774213
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) is characterized by global developmental delay apparent from infancy. Affected individuals show severe hypotonia with delayed walking or inability to walk, poor or absent speech, and impaired intellectual development with behavioral abnormalities. Most patients have early-onset seizures, mild skeletal defects that are usually distal, and nonspecific dysmorphic features. More severely affected individuals have additional congenital abnormalities; however, cardiac involvement is rare (summary by Rodan et al., 2021).

Professional guidelines

PubMed

Smith DK, McDermott AJ, Sullivan JF
Am Fam Physician 2018 May 1;97(9):575-580. PMID: 29763253
Stachler RJ, Francis DO, Schwartz SR, Damask CC, Digoy GP, Krouse HJ, McCoy SJ, Ouellette DR, Patel RR, Reavis CCW, Smith LJ, Smith M, Strode SW, Woo P, Nnacheta LC
Otolaryngol Head Neck Surg 2018 Mar;158(1_suppl):S1-S42. doi: 10.1177/0194599817751030. PMID: 29494321
Petrocheilou A, Tanou K, Kalampouka E, Malakasioti G, Giannios C, Kaditis AG
Pediatr Pulmonol 2014 May;49(5):421-9. Epub 2014 Mar 5 doi: 10.1002/ppul.22993. PMID: 24596395

Recent clinical studies

Etiology

Gan RWC, Moustafa A, Turner K, Knight L
Acta Otolaryngol 2021 Jan;141(1):85-88. Epub 2020 Oct 14 doi: 10.1080/00016489.2020.1821246. PMID: 33393421
Carter J, Rahbar R, Brigger M, Chan K, Cheng A, Daniel SJ, De Alarcon A, Garabedian N, Hart C, Hartnick C, Jacobs I, Liming B, Nicollas R, Pransky S, Richter G, Russell J, Rutter MJ, Schilder A, Smith RJ, Strychowsky J, Ward R, Watters K, Wyatt M, Zalzal G, Zur K, Thompson D
Int J Pediatr Otorhinolaryngol 2016 Jul;86:256-61. Epub 2016 Apr 7 doi: 10.1016/j.ijporl.2016.04.007. PMID: 27107728
Ida JB, Thompson DM
Otolaryngol Clin North Am 2014 Oct;47(5):795-819. Epub 2014 Aug 7 doi: 10.1016/j.otc.2014.06.005. PMID: 25213283
Dobbie AM, White DR
Pediatr Clin North Am 2013 Aug;60(4):893-902. Epub 2013 Jun 14 doi: 10.1016/j.pcl.2013.04.013. PMID: 23905826
Katlic MR, Wang CA, Grillo HC
Ann Thorac Surg 1985 Apr;39(4):391-9. doi: 10.1016/s0003-4975(10)62645-8. PMID: 3885887

Diagnosis

Quraishi H, Lee DJ
Pediatr Clin North Am 2022 Apr;69(2):319-328. doi: 10.1016/j.pcl.2021.12.004. PMID: 35337542
Dowdy RAE, Cornelius BW
Anesth Prog 2020 Jun 1;67(2):90-97. doi: 10.2344/anpr-66-04-08. PMID: 32633776Free PMC Article
Mazurek H, Bręborowicz A, Doniec Z, Emeryk A, Krenke K, Kulus M, Zielnik-Jurkiewicz B
Adv Respir Med 2019;87(5):308-316. doi: 10.5603/ARM.2019.0056. PMID: 31680234
Bedwell J, Zalzal G
Semin Pediatr Surg 2016 Jun;25(3):119-22. Epub 2016 Feb 18 doi: 10.1053/j.sempedsurg.2016.02.004. PMID: 27301595
Petrocheilou A, Tanou K, Kalampouka E, Malakasioti G, Giannios C, Kaditis AG
Pediatr Pulmonol 2014 May;49(5):421-9. Epub 2014 Mar 5 doi: 10.1002/ppul.22993. PMID: 24596395

Therapy

Smith DK, McDermott AJ, Sullivan JF
Am Fam Physician 2018 May 1;97(9):575-580. PMID: 29763253
Curley MA, Wypij D, Watson RS, Grant MJ, Asaro LA, Cheifetz IM, Dodson BL, Franck LS, Gedeit RG, Angus DC, Matthay MA; RESTORE Study Investigators and the Pediatric Acute Lung Injury and Sepsis Investigators Network
JAMA 2015 Jan 27;313(4):379-89. doi: 10.1001/jama.2014.18399. PMID: 25602358Free PMC Article
Petrocheilou A, Tanou K, Kalampouka E, Malakasioti G, Giannios C, Kaditis AG
Pediatr Pulmonol 2014 May;49(5):421-9. Epub 2014 Mar 5 doi: 10.1002/ppul.22993. PMID: 24596395
Bjornson CL, Johnson DW
Lancet 2008 Jan 26;371(9609):329-39. doi: 10.1016/S0140-6736(08)60170-1. PMID: 18295000Free PMC Article
Skolnik N
J Fam Pract 1993 Aug;37(2):165-70. PMID: 8336098

Prognosis

Huston MN, Naunheim KS, Naunheim MR
Ann Thorac Surg 2020 Aug;110(2):676-683. Epub 2020 Jan 24 doi: 10.1016/j.athoracsur.2019.12.022. PMID: 31982445
Bhatt J, Prager JD
Clin Perinatol 2018 Dec;45(4):817-831. Epub 2018 Sep 24 doi: 10.1016/j.clp.2018.07.015. PMID: 30396420
Ida JB, Thompson DM
Otolaryngol Clin North Am 2014 Oct;47(5):795-819. Epub 2014 Aug 7 doi: 10.1016/j.otc.2014.06.005. PMID: 25213283
Sobol SE, Zapata S
Otolaryngol Clin North Am 2008 Jun;41(3):551-66, ix. doi: 10.1016/j.otc.2008.01.012. PMID: 18435998
Lis G, Szczerbinski T, Cichocka-Jarosz E
Pediatr Pulmonol 1995 Oct;20(4):220-4. doi: 10.1002/ppul.1950200404. PMID: 8606851

Clinical prediction guides

Xia C, Postuma RB
Clin Auton Res 2020 Jun;30(3):197-205. Epub 2020 Mar 30 doi: 10.1007/s10286-020-00682-5. PMID: 32232688
Torsney KM, Forsyth D
J R Coll Physicians Edinb 2017 Mar;47(1):35-39. doi: 10.4997/JRCPE.2017.108. PMID: 28569280
Peeraully T
Semin Neurol 2014 Apr;34(2):174-81. Epub 2014 Jun 25 doi: 10.1055/s-0034-1381737. PMID: 24963676
Brown SG
J Allergy Clin Immunol 2004 Aug;114(2):371-6. doi: 10.1016/j.jaci.2004.04.029. PMID: 15316518
Lis G, Szczerbinski T, Cichocka-Jarosz E
Pediatr Pulmonol 1995 Oct;20(4):220-4. doi: 10.1002/ppul.1950200404. PMID: 8606851

Recent systematic reviews

Mills JF, Monaghan NP, Nguyen SA, O'Rourke AK, Halstead LA, Meyer TA
Otolaryngol Head Neck Surg 2024 Apr;170(4):1020-1031. Epub 2024 Jan 14 doi: 10.1002/ohn.639. PMID: 38219735
Kuriyama A, Jackson JL, Kamei J
Crit Care 2020 Nov 7;24(1):640. doi: 10.1186/s13054-020-03358-8. PMID: 33160405Free PMC Article
Isaac A, Zhang H, Soon SR, Campbell S, El-Hakim H
Int J Pediatr Otorhinolaryngol 2016 Apr;83:78-83. Epub 2016 Feb 2 doi: 10.1016/j.ijporl.2016.01.028. PMID: 26968058
Caroff DA, Li L, Muscedere J, Klompas M
Crit Care Med 2016 Apr;44(4):830-40. doi: 10.1097/CCM.0000000000001414. PMID: 26646454
Johnson DW
BMJ Clin Evid 2014 Sep 29;2014 PMID: 25263284Free PMC Article

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