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Abnormality of the larynx

MedGen UID:
867407
Concept ID:
C4021777
Anatomical Abnormality
Synonyms: Laryngeal abnormalities; Laryngeal anomalies
 
HPO: HP:0001600

Definition

An abnormality of the larynx. [from HPO]

Conditions with this feature

Short-rib thoracic dysplasia 6 with or without polydactyly
MedGen UID:
44252
Concept ID:
C0024507
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Smith-Magenis syndrome
MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.
Toriello-Carey syndrome
MedGen UID:
163225
Concept ID:
C0796184
Disease or Syndrome
Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (summary by Toriello et al., 2003). In a review of the Toriello-Carey syndrome, Toriello et al. (2016) stated that while corpus callosum abnormalities and micrognathia with highly arched or cleft palate are seen in most patients, other manifestations are widely variable. They noted that etiologic heterogeneity has been observed in reported patients, with at least 20% of patients having chromosome anomalies, and that no good candidate genes have been identified by exome sequencing. The authors commented that this condition might not be a unitary diagnostic entity. They recommended chromosome microarray for any child suspected of having the condition, followed by standard of care by genetic testing.
Meckel syndrome, type 1
MedGen UID:
811346
Concept ID:
C3714506
Disease or Syndrome
Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.

Professional guidelines

PubMed

Tierney WS, Xiao R, Milstein CF
Laryngoscope 2021 Jun;131(6):E1957-E1964. Epub 2020 Dec 28 doi: 10.1002/lary.29358. PMID: 33369738

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
Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084
Rutter MJ
Braz J Otorhinolaryngol 2014 Nov-Dec;80(6):533-9. Epub 2014 Aug 21 doi: 10.1016/j.bjorl.2014.08.001. PMID: 25457074Free PMC Article
Ambrosio A, Brigger MT
Adv Otorhinolaryngol 2012;73:101-4. Epub 2012 Mar 29 doi: 10.1159/000334455. PMID: 22472238

Diagnosis

Gallant JN, Ransom M, Kaspar A, Wilcox LJ, Whigham AS, Engelstad HJ
Neoreviews 2022 Sep 1;23(9):e613-e624. doi: 10.1542/neo.23-9-e613. PMID: 36047759
Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084
Jefferson ND, Cohen AP, Rutter MJ
Semin Pediatr Surg 2016 Jun;25(3):138-43. Epub 2016 Feb 20 doi: 10.1053/j.sempedsurg.2016.02.006. PMID: 27301599
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article

Therapy

Pinzas LA, Bedwell JR, Ongkasuwan J
Otolaryngol Head Neck Surg 2023 Mar;168(3):469-477. Epub 2023 Jan 28 doi: 10.1177/01945998221100829. PMID: 35608918
Peterson JD, Goyal V, Puricelli MD, Thatcher A, Smith RJ
Ann Otol Rhinol Laryngol 2021 Mar;130(3):311-313. Epub 2020 Aug 8 doi: 10.1177/0003489420948546. PMID: 32772542
Shi J, Uyeda JW, Duran-Mendicuti A, Potter CA, Nunez DB
Radiographics 2019 May-Jun;39(3):879-892. Epub 2019 Apr 12 doi: 10.1148/rg.2019180076. PMID: 30978150
Reid A, Ha JF
Burns 2019 Sep;45(6):1266-1274. Epub 2018 Dec 8 doi: 10.1016/j.burns.2018.10.025. PMID: 30529118
Ayari S, Aubertin G, Girschig H, Van Den Abbeele T, Denoyelle F, Couloignier V, Mondain M
Eur Ann Otorhinolaryngol Head Neck Dis 2013 Feb;130(1):15-21. Epub 2012 Jul 24 doi: 10.1016/j.anorl.2012.04.003. PMID: 22835508

Prognosis

Landry AM, Rutter MJ
Clin Perinatol 2018 Dec;45(4):597-607. Epub 2018 Sep 11 doi: 10.1016/j.clp.2018.07.002. PMID: 30396407
McCaffer C, Blackmore K, Flood LM
J Laryngol Otol 2017 Nov;131(11):946-954. Epub 2017 Oct 25 doi: 10.1017/S0022215117002092. PMID: 29067893
Bowe SN, Hartnick CJ
Curr Opin Otolaryngol Head Neck Surg 2017 Dec;25(6):506-513. doi: 10.1097/MOO.0000000000000414. PMID: 28914624
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article

Clinical prediction guides

Mesolella M, Di Lullo AM, Testa D, Salerno G, Salzano FA, Motta G
Ann Ital Chir 2020;91:239-247. PMID: 32877381
Hysinger EB
Curr Probl Pediatr Adolesc Health Care 2018 Apr;48(4):113-118. Epub 2018 Apr 3 doi: 10.1016/j.cppeds.2018.03.002. PMID: 29622320
van Balkum M, Buijs B, Donselaar EJ, Erkelens DC, Goulin Lippi Fernandes E, Wegner I, Grolman W, Janssen LM
Clin Otolaryngol 2017 Feb;42(1):123-130. Epub 2016 Jun 1 doi: 10.1111/coa.12678. PMID: 27177444
Lyons M, Vlastarakos PV, Nikolopoulos TP
Early Hum Dev 2012 Dec;88(12):951-5. Epub 2012 Sep 25 doi: 10.1016/j.earlhumdev.2012.09.001. PMID: 23017879
Mukai S, Mukai C, Asaoka K
Ann Otol Rhinol Laryngol Suppl 1991 May;153:3-20. doi: 10.1177/00034894911000s501. PMID: 2024905

Recent systematic reviews

Galluzzi F, Garavello W
Eur Arch Otorhinolaryngol 2023 Jul;280(7):3065-3074. Epub 2023 Feb 15 doi: 10.1007/s00405-023-07881-6. PMID: 36790723
Reddy P, Byun YJ, Downs J, Nguyen SA, White DR
Int J Pediatr Otorhinolaryngol 2020 Nov;138:110370. Epub 2020 Sep 9 doi: 10.1016/j.ijporl.2020.110370. PMID: 33152963
McCaffer C, Blackmore K, Flood LM
J Laryngol Otol 2017 Nov;131(11):946-954. Epub 2017 Oct 25 doi: 10.1017/S0022215117002092. PMID: 29067893
van Balkum M, Buijs B, Donselaar EJ, Erkelens DC, Goulin Lippi Fernandes E, Wegner I, Grolman W, Janssen LM
Clin Otolaryngol 2017 Feb;42(1):123-130. Epub 2016 Jun 1 doi: 10.1111/coa.12678. PMID: 27177444
van der Heijden M, Dikkers FG, Halmos GB
Pediatr Pulmonol 2015 Dec;50(12):1368-73. Epub 2015 Mar 30 doi: 10.1002/ppul.23186. PMID: 25825153

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