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Osteogenesis imperfecta type 6(OI6)

MedGen UID:
481194
Concept ID:
C3279564
Disease or Syndrome
Synonyms: OI type 6; OI type VI; Osteogenesis imperfecta, type VI; SERPINF1-Related Osteogenesis Imperfecta
 
Gene (location): SERPINF1 (17p13.3)
 
Monarch Initiative: MONDO:0013515
OMIM®: 613982

Definition

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder (Glorieux et al., 2002; Becker et al., 2011). [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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.  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.
Coxa vara
MedGen UID:
1790477
Concept ID:
C5551440
Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
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).
Vertebral compression fracture
MedGen UID:
75497
Concept ID:
C0262431
Finding
Bowing of the arm
MedGen UID:
488899
Concept ID:
C0426863
Finding
A bending or abnormal curvature affecting a long bone of the arm.
Increased susceptibility to fractures
MedGen UID:
234655
Concept ID:
C1390474
Finding
An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
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.
Beaking of vertebral bodies
MedGen UID:
341588
Concept ID:
C1856599
Finding
Anterior tongue-like protrusions of the vertebral bodies.
Bowing of the legs
MedGen UID:
1807399
Concept ID:
C5574706
Finding
A bending or abnormal curvature affecting a long bone of the leg.
Elevated circulating alkaline phosphatase concentration
MedGen UID:
727252
Concept ID:
C1314665
Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Elevated circulating deoxypyridinoline concentration
MedGen UID:
1773211
Concept ID:
C5421645
Finding
An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation.
Blue sclerae
MedGen UID:
154236
Concept ID:
C0542514
Finding
An abnormal bluish coloration of the sclera.

Professional guidelines

PubMed

Trejo P, Rauch F, Ward L
J Musculoskelet Neuronal Interact 2018 Mar 1;18(1):76-80. PMID: 29504582Free PMC Article

Recent clinical studies

Etiology

Rajagopal A, Homan EP, Joeng KS, Suzuki M, Bertin T, Cela R, Munivez E, Dawson B, Jiang MM, Gannon F, Crawford S, Lee BH
Mol Genet Metab 2016 Mar;117(3):378-82. Epub 2015 Dec 2 doi: 10.1016/j.ymgme.2015.11.015. PMID: 26693895Free PMC Article

Diagnosis

Tucker T, Nelson T, Sirrs S, Roughley P, Glorieux FH, Moffatt P, Schlade-Bartusiak K, Brown L, Rauch F
Am J Med Genet A 2012 Jun;158A(6):1422-6. Epub 2012 Apr 23 doi: 10.1002/ajmg.a.35319. PMID: 22528245

Therapy

Celik NB, Gonc N, Ozon A, Alikasifoglu A, Rauch F, Kandemir N
J Pediatr Endocrinol Metab 2020 Dec 16;33(12):1617-1624. Epub 2020 Oct 8 doi: 10.1515/jpem-2020-0260. PMID: 33031053
Trejo P, Rauch F, Ward L
J Musculoskelet Neuronal Interact 2018 Mar 1;18(1):76-80. PMID: 29504582Free PMC Article
Ward L, Bardai G, Moffatt P, Al-Jallad H, Trejo P, Glorieux FH, Rauch F
Calcif Tissue Int 2016 Jun;98(6):566-72. Epub 2016 Jan 27 doi: 10.1007/s00223-016-0110-1. PMID: 26815784
Hoyer-Kuhn H, Netzer C, Koerber F, Schoenau E, Semler O
Orphanet J Rare Dis 2014 Sep 26;9:145. doi: 10.1186/s13023-014-0145-1. PMID: 25257953Free PMC Article
Semler O, Netzer C, Hoyer-Kuhn H, Becker J, Eysel P, Schoenau E
J Musculoskelet Neuronal Interact 2012 Sep;12(3):183-8. PMID: 22947550

Prognosis

Celik NB, Gonc N, Ozon A, Alikasifoglu A, Rauch F, Kandemir N
J Pediatr Endocrinol Metab 2020 Dec 16;33(12):1617-1624. Epub 2020 Oct 8 doi: 10.1515/jpem-2020-0260. PMID: 33031053

Clinical prediction guides

Gremminger VL, Omosule CL, Crawford TK, Cunningham R, Rector RS, Phillips CL
Mol Genet Metab 2022 Aug;136(4):315-323. Epub 2022 Jun 13 doi: 10.1016/j.ymgme.2022.06.004. PMID: 35725939
Trejo P, Rauch F, Ward L
J Musculoskelet Neuronal Interact 2018 Mar 1;18(1):76-80. PMID: 29504582Free PMC Article
Rajagopal A, Homan EP, Joeng KS, Suzuki M, Bertin T, Cela R, Munivez E, Dawson B, Jiang MM, Gannon F, Crawford S, Lee BH
Mol Genet Metab 2016 Mar;117(3):378-82. Epub 2015 Dec 2 doi: 10.1016/j.ymgme.2015.11.015. PMID: 26693895Free PMC Article
Hoyer-Kuhn H, Netzer C, Koerber F, Schoenau E, Semler O
Orphanet J Rare Dis 2014 Sep 26;9:145. doi: 10.1186/s13023-014-0145-1. PMID: 25257953Free PMC Article
Bogan R, Riddle RC, Li Z, Kumar S, Nandal A, Faugere MC, Boskey A, Crawford SE, Clemens TL
J Bone Miner Res 2013 Jul;28(7):1531-6. doi: 10.1002/jbmr.1892. PMID: 23413146Free PMC Article

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