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Laryngotracheomalacia

MedGen UID:
107947
Concept ID:
C0585984
Anatomical Abnormality
Synonym: Tracheolaryngomalacia
SNOMED CT: Tracheolaryngomalacia (308232009); Laryngotracheomalacia (308232009)
 
HPO: HP:0008755

Term Hierarchy

Conditions with this feature

Sponastrime dysplasia
MedGen UID:
266247
Concept ID:
C1300260
Disease or Syndrome
Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).
Cerebellar atrophy, visual impairment, and psychomotor retardation;
MedGen UID:
905041
Concept ID:
C4225172
Disease or Syndrome
Developmental delay with or without dysmorphic facies and autism
MedGen UID:
1679263
Concept ID:
C5193106
Disease or Syndrome
Developmental delay with or without dysmorphic facies and autism (DEDDFA) is a complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Some patients may be severely affected with no speech and inability to walk, whereas others may be able to attend special schools or have normal intellectual function associated with autism spectrum disorder and mild speech delay. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups. Patients with TRRAP mutations affecting residues 1031-1159 have a more severe disorder, often with multisystem involvement, including renal, cardiac, and genitourinary systems, as well as structural brain abnormalities. Patients with mutations outside of that region tend to have a less severe phenotype with a higher incidence of autism and usually no systemic involvement. Patients in both groups usually have somewhat similar dysmorphic facial features, such as upslanting palpebral fissures, hypertelorism, low-set ears, and broad or depressed nasal bridge, although these features are highly variable (summary by Cogne et al., 2019).
Neurodevelopmental disorder with visual defects and brain anomalies
MedGen UID:
1684774
Concept ID:
C5231404
Disease or Syndrome
Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is characterized by global developmental delay with impaired intellectual development and speech delay, variable visual defects, including retinitis pigmentosa and optic atrophy, hypotonia or hypertonia, and variable structural brain abnormalities. Other nonspecific features may be found (summary by Okur et al., 2019).

Recent clinical studies

Etiology

Bermudez BEBV, de Souza do Amaral ME, da Silva Gomes C, Novadzki IM, de Oliveira CM
Am J Med Genet A 2021 Aug;185(8):2356-2360. Epub 2021 May 28 doi: 10.1002/ajmg.a.62244. PMID: 34047053
Tuğcu GD, Soyer T, Polat SE, Hizal M, Emiralioğlu N, Yalçın E, Doğru D, Kiper N, Özçelik U
Respir Med 2021 May;181:106376. Epub 2021 Mar 28 doi: 10.1016/j.rmed.2021.106376. PMID: 33813207
D'Souza JN, Levi JR, Park D, Shah UK
JAMA Otolaryngol Head Neck Surg 2016 May 1;142(5):484-8. doi: 10.1001/jamaoto.2016.0173. PMID: 27055048
Gupta P, McDonald R, Gossett JM, Butt W, Shinkawa T, Imamura M, Bhutta AT, Prodhan P
Ann Thorac Surg 2012 Oct;94(4):1262-8. Epub 2012 Jul 11 doi: 10.1016/j.athoracsur.2012.05.033. PMID: 22789618
Pereira KD, MacGregor AR, McDuffie CM, Mitchell RB
Arch Otolaryngol Head Neck Surg 2003 Dec;129(12):1268-71. doi: 10.1001/archotol.129.12.1268. PMID: 14676150

Diagnosis

Bermudez BEBV, de Souza do Amaral ME, da Silva Gomes C, Novadzki IM, de Oliveira CM
Am J Med Genet A 2021 Aug;185(8):2356-2360. Epub 2021 May 28 doi: 10.1002/ajmg.a.62244. PMID: 34047053
Tuğcu GD, Soyer T, Polat SE, Hizal M, Emiralioğlu N, Yalçın E, Doğru D, Kiper N, Özçelik U
Respir Med 2021 May;181:106376. Epub 2021 Mar 28 doi: 10.1016/j.rmed.2021.106376. PMID: 33813207
D'Souza JN, Levi JR, Park D, Shah UK
JAMA Otolaryngol Head Neck Surg 2016 May 1;142(5):484-8. doi: 10.1001/jamaoto.2016.0173. PMID: 27055048
Claes J, Boudewyns A, Deron P, Vander Poorten V, Hoeve H
B-ENT 2005;Suppl 1:113-22; quiz 123-5. PMID: 16363272
Burke AJ, Vining DJ, McGuirt WF Jr, Postma G, Browne JD
Laryngoscope 2000 Jan;110(1):23-9. doi: 10.1097/00005537-200001000-00005. PMID: 10646710

Therapy

D'Souza JN, Levi JR, Park D, Shah UK
JAMA Otolaryngol Head Neck Surg 2016 May 1;142(5):484-8. doi: 10.1001/jamaoto.2016.0173. PMID: 27055048
Pereira KD, MacGregor AR, McDuffie CM, Mitchell RB
Arch Otolaryngol Head Neck Surg 2003 Dec;129(12):1268-71. doi: 10.1001/archotol.129.12.1268. PMID: 14676150
Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V
Am J Med Genet 2002 Jan 1;107(1):1-4. doi: 10.1002/ajmg.10028. PMID: 11807859
Burke AJ, Vining DJ, McGuirt WF Jr, Postma G, Browne JD
Laryngoscope 2000 Jan;110(1):23-9. doi: 10.1097/00005537-200001000-00005. PMID: 10646710
Go RO, Martin TR, Lester MR
Ann Allergy Asthma Immunol 1997 May;78(5):449-56. doi: 10.1016/S1081-1206(10)63231-0. PMID: 9164357

Prognosis

D'Souza JN, Levi JR, Park D, Shah UK
JAMA Otolaryngol Head Neck Surg 2016 May 1;142(5):484-8. doi: 10.1001/jamaoto.2016.0173. PMID: 27055048
Gupta P, McDonald R, Gossett JM, Butt W, Shinkawa T, Imamura M, Bhutta AT, Prodhan P
Ann Thorac Surg 2012 Oct;94(4):1262-8. Epub 2012 Jul 11 doi: 10.1016/j.athoracsur.2012.05.033. PMID: 22789618
Pereira KD, MacGregor AR, McDuffie CM, Mitchell RB
Arch Otolaryngol Head Neck Surg 2003 Dec;129(12):1268-71. doi: 10.1001/archotol.129.12.1268. PMID: 14676150
Nishimura G, Honma T, Shiihara T, Manabe N, Nakajima E, Adachi M, Mikawa M, Fukushima Y, Ikegawa S
Am J Med Genet A 2003 Mar 1;117A(2):147-53. doi: 10.1002/ajmg.a.10927. PMID: 12567412
Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V
Am J Med Genet 2002 Jan 1;107(1):1-4. doi: 10.1002/ajmg.10028. PMID: 11807859

Clinical prediction guides

Bermudez BEBV, de Souza do Amaral ME, da Silva Gomes C, Novadzki IM, de Oliveira CM
Am J Med Genet A 2021 Aug;185(8):2356-2360. Epub 2021 May 28 doi: 10.1002/ajmg.a.62244. PMID: 34047053
Gupta P, McDonald R, Gossett JM, Butt W, Shinkawa T, Imamura M, Bhutta AT, Prodhan P
Ann Thorac Surg 2012 Oct;94(4):1262-8. Epub 2012 Jul 11 doi: 10.1016/j.athoracsur.2012.05.033. PMID: 22789618
Pereira KD, MacGregor AR, McDuffie CM, Mitchell RB
Arch Otolaryngol Head Neck Surg 2003 Dec;129(12):1268-71. doi: 10.1001/archotol.129.12.1268. PMID: 14676150
Viot G, Lacombe D, David A, Mathieu M, de Broca A, Faivre L, Gigarel N, Munnich A, Lyonnet S, Le Merrer M, Cormier-Daire V
Am J Med Genet 2002 Jan 1;107(1):1-4. doi: 10.1002/ajmg.10028. PMID: 11807859
Bibi H, Khvolis E, Shoseyov D, Ohaly M, Ben Dor D, London D, Ater D
Chest 2001 Feb;119(2):409-13. doi: 10.1378/chest.119.2.409. PMID: 11171716

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