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Osteogenesis imperfecta, perinatal lethal

Synonyms
OI, TYPE II; OSTEOGENESIS IMPERFECTA, TYPE II; Osteogenesis imperfecta congenita; Osteogenesis imperfecta congenita perinatal lethal form; Osteogenesis imperfecta type 2; Osteogenesis imperfecta, dominant perinatal lethal; Vrolik type of osteogenesis imperfecta
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: COL1A1/2 Osteogenesis Imperfecta
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Robert D Steiner
Donald Basel
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Available tests

111 tests are in the database for this condition.

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Clinical tests (111 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4, COL1A1
    Summary: collagen type I alpha 1 chain

  • Also known as: EDSARTH2, EDSCV, OI4, COL1A2
    Summary: collagen type I alpha 2 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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