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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). Autosomal recessive inheritance (Orphanet)

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 valve 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.

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Joint dislocation

MedGen UID:: 41614
•Concept ID:: C0012691
•: Injury or Poisoning

Displacement or malalignment of joints.

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Multiple joint dislocation

MedGen UID:: 90698
•Concept ID:: C0332792
•: Injury or Poisoning

Dislocation of many joints.

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Abnormal cartilage matrix

MedGen UID:: 870280
•Concept ID:: C4024721
•: Anatomical Abnormality

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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.

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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.

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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.

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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.

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Abnormality of metabolism/homeostasis

MedGen UID:: 867398
•Concept ID:: C4021768
•: Finding

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Abnormality of metabolism/homeostasis
- Abnormality of metabolism/homeostasis
Abnormality of the cardiovascular system
- Pulmonary valve insufficiency
Abnormality of the musculoskeletal system
Abnormality of the respiratory system

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLethal Larsen-like syndrome

Primary bone dysplasia with multiple joint dislocations
- Lethal 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

Precocious appearance of the capital femoral ossific nucleus in Larsen syndrome.

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

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