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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): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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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.

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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.

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Poor wound healing

MedGen UID:: 377525
•Concept ID:: C1851789
•: Finding

A reduced ability to heal cutaneous wounds.

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Blue sclerae

MedGen UID:: 154236
•Concept ID:: C0542514
•: Finding

An abnormal bluish coloration of the sclera.

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Abnormality of the cardiovascular system
- Arterial rupture
Abnormality of the eye
- Blue sclerae
Abnormality of the integument
Abnormality of the musculoskeletal system
Growth abnormality
- Short stature

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: 25355833 Free 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

See all (4)

Diagnosis

Familial occurrence and heritable connective tissue disorders in cervical artery dissection.

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

See all (6)

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

See all (2)

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

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

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