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Lethal Larsen-like syndrome

MedGen UID:
343375
Concept ID:
C1855535
Disease or Syndrome
Synonyms: Larsen like syndrome, lethal type; Larsen-like multiple joint dislocation syndrome; Larsen-Like Syndrome, Lethal Type
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0009512
OMIM®: 245650
Orphanet: ORPHA2371

Definition

A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency. [from ORDO]

Clinical features

From HPO
Pulmonary insufficiency
MedGen UID:
11031
Concept ID:
C0034088
Pathologic Function
The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.
Joint dislocation
MedGen UID:
41614
Concept ID:
C0012691
Injury or Poisoning
Displacement or malalignment of joints.
Multiple joint dislocation
MedGen UID:
90698
Concept ID:
C0332792
Injury or Poisoning
Dislocation of many joints.
Abnormal cartilage matrix
MedGen UID:
870280
Concept ID:
C4024721
Anatomical Abnormality
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Congenital laryngomalacia
MedGen UID:
120500
Concept ID:
C0264303
Anatomical Abnormality
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
Pulmonary hypoplasia
MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Tracheomalacia
MedGen UID:
215296
Concept ID:
C0948187
Disease or Syndrome
Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLethal Larsen-like syndrome
Follow this link to review classifications for Lethal Larsen-like syndrome in Orphanet.

Recent clinical studies

Etiology

Bolund ACS, Langdahl B, Laurberg TB, Hellfritzsch MB, Gjørup H, Møller-Madsen B, Nielsen TØ, Farholt S, Gregersen PA
Eur J Med Genet 2021 Dec;64(12):104342. Epub 2021 Sep 16 doi: 10.1016/j.ejmg.2021.104342. PMID: 34537402
De la Rocha A, Birch JG, Schiller JR
J Bone Joint Surg Am 2012 May 2;94(9):e55. doi: 10.2106/JBJS.K.00865. PMID: 22552677

Diagnosis

De la Rocha A, Birch JG, Schiller JR
J Bone Joint Surg Am 2012 May 2;94(9):e55. doi: 10.2106/JBJS.K.00865. PMID: 22552677
Orhan D, Balci S, Deren O, Utine EG, Başaran A, Kale G
Turk J Pediatr 2008 Jul-Aug;50(4):395-9. PMID: 19014058

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