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Congenital laryngeal abductor palsy(LABD)

MedGen UID:
96004
Concept ID:
C0396059
Congenital Abnormality
Synonyms: Gerhardt syndrome; LABD; Laryngeal abductor paralysis; LARYNGEAL ABDUCTOR PARALYSIS, X-LINKED; Vocal cord dysfunction familial
SNOMED CT: Congenital laryngeal abductor palsy (232442001); Gerhardt syndrome (232442001); Congenital laryngeal abductor paralysis (232442001)
 
Monarch Initiative: MONDO:0007876
OMIM®: 150260
Orphanet: ORPHA2808

Definition

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). [from OMIM]

Clinical features

From HPO
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Stridor
MedGen UID:
11613
Concept ID:
C0038450
Sign or Symptom
Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.
Hoarse voice
MedGen UID:
5602
Concept ID:
C0019825
Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Vocal cord paralysis
MedGen UID:
53047
Concept ID:
C0042928
Disease or Syndrome
A loss of the ability to move the vocal folds.
Weak voice
MedGen UID:
66033
Concept ID:
C0241700
Finding
Reduced intensity (volume) of speech.
Cyanosis
MedGen UID:
1189
Concept ID:
C0010520
Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital laryngeal abductor palsy
Follow this link to review classifications for Congenital laryngeal abductor palsy in Orphanet.

Recent clinical studies

Etiology

Lee JW, Bon-Mardion N, Smith ME, Marie JP
JAMA Otolaryngol Head Neck Surg 2020 May 1;146(5):401-407. doi: 10.1001/jamaoto.2019.4863. PMID: 32191278Free PMC Article
Giotakis AI, Pototschnig C
Laryngoscope 2020 Apr;130(4):E252-E257. Epub 2019 May 24 doi: 10.1002/lary.28079. PMID: 31124164
Bathini L, Jomah M, Krajacic A, Jeffery C, Campbell S, El-Hakim H
Int J Pediatr Otorhinolaryngol 2014 Nov;78(11):1866-9. Epub 2014 Aug 17 doi: 10.1016/j.ijporl.2014.08.012. PMID: 25218340
Nisa L, Holtz F, Sandu K
Int J Pediatr Otorhinolaryngol 2013 Jan;77(1):13-8. Epub 2012 Nov 17 doi: 10.1016/j.ijporl.2012.10.020. PMID: 23164501
Holinger LD, Holinger PC, Holinger PH
Ann Otol Rhinol Laryngol 1976 Jul-Aug;85(4 Pt 1):428-36. doi: 10.1177/000348947608500402. PMID: 949150

Diagnosis

Boschann F, Moreno DA, Mensah MA, Sczakiel HL, Skipalova K, Holtgrewe M, Mundlos S, Fischer-Zirnsak B
J Hum Genet 2022 Jul;67(7):405-410. Epub 2022 Jan 31 doi: 10.1038/s10038-022-01018-z. PMID: 35095096Free PMC Article
Bathini L, Jomah M, Krajacic A, Jeffery C, Campbell S, El-Hakim H
Int J Pediatr Otorhinolaryngol 2014 Nov;78(11):1866-9. Epub 2014 Aug 17 doi: 10.1016/j.ijporl.2014.08.012. PMID: 25218340
Nisa L, Holtz F, Sandu K
Int J Pediatr Otorhinolaryngol 2013 Jan;77(1):13-8. Epub 2012 Nov 17 doi: 10.1016/j.ijporl.2012.10.020. PMID: 23164501
Grundfast KM, Harley E
Otolaryngol Clin North Am 1989 Jun;22(3):569-97. PMID: 2657584
Isaacson G, Moya F
Ann Otol Rhinol Laryngol 1987 Nov-Dec;96(6):701-4. doi: 10.1177/000348948709600619. PMID: 3688762

Therapy

Bathini L, Jomah M, Krajacic A, Jeffery C, Campbell S, El-Hakim H
Int J Pediatr Otorhinolaryngol 2014 Nov;78(11):1866-9. Epub 2014 Aug 17 doi: 10.1016/j.ijporl.2014.08.012. PMID: 25218340
Holinger LD, Holinger PC, Holinger PH
Ann Otol Rhinol Laryngol 1976 Jul-Aug;85(4 Pt 1):428-36. doi: 10.1177/000348947608500402. PMID: 949150

Prognosis

Giotakis AI, Pototschnig C
Laryngoscope 2020 Apr;130(4):E252-E257. Epub 2019 May 24 doi: 10.1002/lary.28079. PMID: 31124164
Nisa L, Holtz F, Sandu K
Int J Pediatr Otorhinolaryngol 2013 Jan;77(1):13-8. Epub 2012 Nov 17 doi: 10.1016/j.ijporl.2012.10.020. PMID: 23164501
Baker SE, Sapienza CM, Collins S
Int J Pediatr Otorhinolaryngol 2003 Apr;67(4):413-6. doi: 10.1016/s0165-5876(02)00389-0. PMID: 12663116
Lapeña JF Jr, Berkowitz RG
Ann Otol Rhinol Laryngol 2001 Oct;110(10):952-5. doi: 10.1177/000348940111001011. PMID: 11642429
Berkowitz RG
Ann Otol Rhinol Laryngol 1996 Mar;105(3):207-12. doi: 10.1177/000348949610500306. PMID: 8615584

Clinical prediction guides

Lee JW, Bon-Mardion N, Smith ME, Marie JP
JAMA Otolaryngol Head Neck Surg 2020 May 1;146(5):401-407. doi: 10.1001/jamaoto.2019.4863. PMID: 32191278Free PMC Article

Recent systematic reviews

Bathini L, Jomah M, Krajacic A, Jeffery C, Campbell S, El-Hakim H
Int J Pediatr Otorhinolaryngol 2014 Nov;78(11):1866-9. Epub 2014 Aug 17 doi: 10.1016/j.ijporl.2014.08.012. PMID: 25218340
Nisa L, Holtz F, Sandu K
Int J Pediatr Otorhinolaryngol 2013 Jan;77(1):13-8. Epub 2012 Nov 17 doi: 10.1016/j.ijporl.2012.10.020. PMID: 23164501

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