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Osteogenesis imperfecta type III(OI3)

MedGen UID:
78664
Concept ID:
C0268362
Disease or Syndrome
Synonyms: OI type 3; OI type III; OI3; Osteogenesis imperfecta type 3; Osteogenesis imperfecta, progressively deforming with normal sclerae; Progressively Deforming Osteogenesis Imperfecta
SNOMED CT: Osteogenesis imperfecta type III (385483009)
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 dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Genes (locations): COL1A1 (17q21.33); COL1A2 (7q21.3)
 
Monarch Initiative: MONDO:0009804
OMIM®: 259420
Orphanet: ORPHA216812

Disease characteristics

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). [from GeneReviews]
Authors:
Robert D Steiner  |  Donald Basel   view full author information

Additional description

From MedlinePlus Genetics
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

There are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.

The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.

Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.  https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta

Clinical features

From HPO
Protrusio acetabuli
MedGen UID:
98369
Concept ID:
C0409495
Anatomical Abnormality
Intrapelvic bulging of the medial acetabular wall.
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Disproportionate short-limb short stature
MedGen UID:
342370
Concept ID:
C1849937
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Neonatal short-limb short stature
MedGen UID:
337984
Concept ID:
C1850171
Finding
A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Dentinogenesis imperfecta
MedGen UID:
8313
Concept ID:
C0011436
Congenital Abnormality
Developmental dysplasia of dentin.
Recurrent fractures
MedGen UID:
42094
Concept ID:
C0016655
Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Platybasia
MedGen UID:
45959
Concept ID:
C0032209
Congenital Abnormality
A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Thin ribs
MedGen UID:
98095
Concept ID:
C0426818
Finding
Ribs with a reduced diameter.
Slender long bone
MedGen UID:
331446
Concept ID:
C1833144
Finding
Reduced diameter of a long bone.
Decreased calvarial ossification
MedGen UID:
322270
Concept ID:
C1833762
Finding
Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).
Bowing of limbs due to multiple fractures
MedGen UID:
376722
Concept ID:
C1850178
Finding
Curvature of the shafts of the long bones due to multiple fractures.
Multiple prenatal fractures
MedGen UID:
377844
Concept ID:
C1853171
Finding
The presence of bone fractures in the prenatal period that are diagnosed at birth or before.
Biconcave vertebral bodies
MedGen UID:
383834
Concept ID:
C1856087
Finding
Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.
Severe generalized osteoporosis
MedGen UID:
347884
Concept ID:
C1859443
Disease or Syndrome
Severe degree of osteoporosis.
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Wormian bones
MedGen UID:
766814
Concept ID:
C3553900
Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Basilar impression
MedGen UID:
1639127
Concept ID:
C4551802
Congenital Abnormality
Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.

Professional guidelines

PubMed

Henderson BD, Isaac N, Mabele O, Khiba S, Nkayi A, Mokoena T
S Afr Med J 2016 May 25;106(6 Suppl 1):S47-9. doi: 10.7196/SAMJ.2016.v106i6.10992. PMID: 27245525
Sinikumpu JJ, Ojaniemi M, Lehenkari P, Serlo W
Injury 2015 Aug;46(8):1440-6. Epub 2015 Apr 22 doi: 10.1016/j.injury.2015.04.021. PMID: 25943292
Jakubowska-Pietkiewicz E, Chlebna-Sokół D
Ortop Traumatol Rehabil 2008 Nov-Dec;10(6):593-601. PMID: 19153548

Curated

Orphanet Emergency Guidelines: Osteogenesis imperfecta (OI)

Recent clinical studies

Etiology

Persiani P, Ranaldi FM, Martini L, Zambrano A, Celli M, D'Eufemia P, Villani C
J Pediatr Orthop B 2019 Mar;28(2):179-185. doi: 10.1097/BPB.0000000000000536. PMID: 30212425
Rothschild L, Goeller JK, Voronov P, Barabanova A, Smith P
Paediatr Anaesth 2018 Nov;28(11):1050-1058. Epub 2018 Oct 8 doi: 10.1111/pan.13504. PMID: 30295359
Persiani P, Pesce MV, Martini L, Ranaldi FM, D'Eufemia P, Zambrano A, Celli M, Villani C
J Pediatr Orthop B 2018 Jul;27(4):338-343. doi: 10.1097/BPB.0000000000000483. PMID: 28723699
Sinikumpu JJ, Ojaniemi M, Lehenkari P, Serlo W
Injury 2015 Aug;46(8):1440-6. Epub 2015 Apr 22 doi: 10.1016/j.injury.2015.04.021. PMID: 25943292
Sillence DO, Barlow KK, Cole WG, Dietrich S, Garber AP, Rimoin DL
Am J Med Genet 1986 Mar;23(3):821-32. doi: 10.1002/ajmg.1320230309. PMID: 3953678

Diagnosis

Delniotis I, Leidinger B
Am J Case Rep 2019 Oct 21;20:1540-1550. doi: 10.12659/AJCR.918560. PMID: 31631172Free PMC Article
Fleissig E, Barak A
Retin Cases Brief Rep 2019 Winter;13(1):43-46. doi: 10.1097/ICB.0000000000000527. PMID: 28085759
Sinikumpu JJ, Ojaniemi M, Lehenkari P, Serlo W
Injury 2015 Aug;46(8):1440-6. Epub 2015 Apr 22 doi: 10.1016/j.injury.2015.04.021. PMID: 25943292
Witters I, Moerman P, Fryns JP
Genet Couns 2008;19(3):267-75. PMID: 18990981
Robinson LP, Worthen NJ, Lachman RS, Adomian GE, Rimoin DL
Prenat Diagn 1987;7(1):7-15. doi: 10.1002/pd.1970070103. PMID: 3547385

Therapy

Rothschild L, Goeller JK, Voronov P, Barabanova A, Smith P
Paediatr Anaesth 2018 Nov;28(11):1050-1058. Epub 2018 Oct 8 doi: 10.1111/pan.13504. PMID: 30295359
Persiani P, Pesce MV, Martini L, Ranaldi FM, D'Eufemia P, Zambrano A, Celli M, Villani C
J Pediatr Orthop B 2018 Jul;27(4):338-343. doi: 10.1097/BPB.0000000000000483. PMID: 28723699
Sinikumpu JJ, Ojaniemi M, Lehenkari P, Serlo W
Injury 2015 Aug;46(8):1440-6. Epub 2015 Apr 22 doi: 10.1016/j.injury.2015.04.021. PMID: 25943292
Jakubowska-Pietkiewicz E, Chlebna-Sokół D
Ortop Traumatol Rehabil 2008 Nov-Dec;10(6):593-601. PMID: 19153548
Vieira NE, Goans RE, Weiss GH, Hopkins E, Marini JC, Yergey AL
Calcif Tissue Int 2000 Aug;67(2):97-100. doi: 10.1007/s00223001110. PMID: 10920211

Prognosis

Persiani P, Ranaldi FM, Martini L, Zambrano A, Celli M, D'Eufemia P, Villani C
J Pediatr Orthop B 2019 Mar;28(2):179-185. doi: 10.1097/BPB.0000000000000536. PMID: 30212425
Fleissig E, Barak A
Retin Cases Brief Rep 2019 Winter;13(1):43-46. doi: 10.1097/ICB.0000000000000527. PMID: 28085759
Persiani P, Pesce MV, Martini L, Ranaldi FM, D'Eufemia P, Zambrano A, Celli M, Villani C
J Pediatr Orthop B 2018 Jul;27(4):338-343. doi: 10.1097/BPB.0000000000000483. PMID: 28723699
Sinikumpu JJ, Ojaniemi M, Lehenkari P, Serlo W
Injury 2015 Aug;46(8):1440-6. Epub 2015 Apr 22 doi: 10.1016/j.injury.2015.04.021. PMID: 25943292
Jakubowska-Pietkiewicz E, Chlebna-Sokół D
Ortop Traumatol Rehabil 2008 Nov-Dec;10(6):593-601. PMID: 19153548

Clinical prediction guides

Persiani P, Pesce MV, Martini L, Ranaldi FM, D'Eufemia P, Zambrano A, Celli M, Villani C
J Pediatr Orthop B 2018 Jul;27(4):338-343. doi: 10.1097/BPB.0000000000000483. PMID: 28723699
Faqeih E, Roughley P, Glorieux FH, Rauch F
Am J Med Genet A 2009 Mar;149A(3):461-5. doi: 10.1002/ajmg.a.32653. PMID: 19208385
Witters I, Moerman P, Fryns JP
Genet Couns 2008;19(3):267-75. PMID: 18990981
Vieira NE, Goans RE, Weiss GH, Hopkins E, Marini JC, Yergey AL
Calcif Tissue Int 2000 Aug;67(2):97-100. doi: 10.1007/s00223001110. PMID: 10920211
Wallis GA, Sykes B, Byers PH, Mathew CG, Viljoen D, Beighton P
J Med Genet 1993 Jun;30(6):492-6. doi: 10.1136/jmg.30.6.492. PMID: 8100856Free PMC Article

Recent systematic reviews

Sinikumpu JJ, Ojaniemi M, Lehenkari P, Serlo W
Injury 2015 Aug;46(8):1440-6. Epub 2015 Apr 22 doi: 10.1016/j.injury.2015.04.021. PMID: 25943292

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • Orphanet, 2008
      Orphanet Emergency Guidelines: Osteogenesis imperfecta (OI)

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