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Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2(OIEDS2)

MedGen UID:
1751229
•Concept ID:
C5436847
•
Disease or Syndrome
Synonym: OIEDS SYNDROME 2
 
Gene (location): COL1A2 (7q21.3)
 
Monarch Initiative: MONDO:0030855
OMIM®: 619120

Definition

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome-2 (OIEDS2) is an autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility) (summary by Raff et al., 2000 and Malfait et al., 2013). For a discussion of genetic heterogeneity of combined osteogenesis imperfecta and Ehlers-Danlos syndrome, see 619115. [from OMIM]

Clinical features

From HPO
Arterial rupture
MedGen UID:
102341
•Concept ID:
C0155760
•
Disease or Syndrome
Sudden breakage of an artery leading to leakage of blood from the circulation.
See: Feature record | Search on this feature
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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Joint dislocation
MedGen UID:
41614
•Concept ID:
C0012691
•
Injury or Poisoning
Displacement or malalignment of joints.
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Recurrent fractures
MedGen UID:
42094
•Concept ID:
C0016655
•
Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
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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.
See: Feature record | Search on this feature
Generalized hypotonia
MedGen UID:
346841
•Concept ID:
C1858120
•
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
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Hyperextensible skin
MedGen UID:
66023
•Concept ID:
C0241074
•
Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
See: Feature record | Search on this feature
Bruising susceptibility
MedGen UID:
140849
•Concept ID:
C0423798
•
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
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Dermal translucency
MedGen UID:
373141
•Concept ID:
C1836646
•
Finding
An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.
See: Feature record | Search on this feature
Poor wound healing
MedGen UID:
377525
•Concept ID:
C1851789
•
Finding
A reduced ability to heal cutaneous wounds.
See: Feature record | Search on this feature
Blue sclerae
MedGen UID:
154236
•Concept ID:
C0542514
•
Finding
An abnormal bluish coloration of the sclera.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Familial occurrence and heritable connective tissue disorders in cervical artery dissection.
Debette S, Goeggel Simonetti B, Schilling S, Martin JJ, Kloss M, Sarikaya H, Hausser I, Engelter S, Metso TM, Pezzini A, Thijs V, Touzé E, Paolucci S, Costa P, Sessa M, Samson Y, Béjot Y, Altintas A, Metso AJ, Hervé D, Lichy C, Jung S, Fischer U, Lamy C, Grau A, Chabriat H, Caso V, Lyrer PA, Stapf C, Tatlisumak T, Brandt T, Tournier-Lasserve E, Germain DP, Frank M, Baumgartner RW, Grond-Ginsbach C, Bousser MG, Leys D, Dallongeville J, Bersano A, Arnold M; CADISP-plus consortium
Neurology 2014 Nov 25;83(22):2023-31. Epub 2014 Oct 29 doi: 10.1212/WNL.0000000000001027. PMID: 25355833Free PMC Article
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
Vandersteen AM, Lund AM, Ferguson DJ, Sawle P, Pollitt RC, Holder SE, Wakeling E, Moat N, Pope FM
Am J Med Genet A 2014 Feb;164A(2):386-91. Epub 2013 Dec 5 doi: 10.1002/ajmg.a.36285. PMID: 24311407
Joint hypermobility syndrome in childhood. A not so benign multisystem disorder?
Adib N, Davies K, Grahame R, Woo P, Murray KJ
Rheumatology (Oxford) 2005 Jun;44(6):744-50. Epub 2005 Feb 22 doi: 10.1093/rheumatology/keh557. PMID: 15728418
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.
Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Faiyaz Ul Haque M, Teebi AS
Acta Paediatr 2003 Apr;92(4):456-62. doi: 10.1111/j.1651-2227.2003.tb00578.x. PMID: 12801113

Diagnosis

Familial occurrence and heritable connective tissue disorders in cervical artery dissection.
Debette S, Goeggel Simonetti B, Schilling S, Martin JJ, Kloss M, Sarikaya H, Hausser I, Engelter S, Metso TM, Pezzini A, Thijs V, Touzé E, Paolucci S, Costa P, Sessa M, Samson Y, Béjot Y, Altintas A, Metso AJ, Hervé D, Lichy C, Jung S, Fischer U, Lamy C, Grau A, Chabriat H, Caso V, Lyrer PA, Stapf C, Tatlisumak T, Brandt T, Tournier-Lasserve E, Germain DP, Frank M, Baumgartner RW, Grond-Ginsbach C, Bousser MG, Leys D, Dallongeville J, Bersano A, Arnold M; CADISP-plus consortium
Neurology 2014 Nov 25;83(22):2023-31. Epub 2014 Oct 29 doi: 10.1212/WNL.0000000000001027. PMID: 25355833Free PMC Article
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
Vandersteen AM, Lund AM, Ferguson DJ, Sawle P, Pollitt RC, Holder SE, Wakeling E, Moat N, Pope FM
Am J Med Genet A 2014 Feb;164A(2):386-91. Epub 2013 Dec 5 doi: 10.1002/ajmg.a.36285. PMID: 24311407
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC
Hum Mutat 2007 Apr;28(4):396-405. doi: 10.1002/humu.20456. PMID: 17206620
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.
Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Faiyaz Ul Haque M, Teebi AS
Acta Paediatr 2003 Apr;92(4):456-62. doi: 10.1111/j.1651-2227.2003.tb00578.x. PMID: 12801113
Skin is a window on heritable disorders of connective tissue.
Holbrook KA, Byers PH
Am J Med Genet 1989 Sep;34(1):105-21. doi: 10.1002/ajmg.1320340118. PMID: 2683775

Clinical prediction guides

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC
Hum Mutat 2007 Apr;28(4):396-405. doi: 10.1002/humu.20456. PMID: 17206620
A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar.
Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Faiyaz Ul Haque M, Teebi AS
Acta Paediatr 2003 Apr;92(4):456-62. doi: 10.1111/j.1651-2227.2003.tb00578.x. PMID: 12801113

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