U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Otospondylomegaepiphyseal dysplasia, autosomal recessive(OSMEDB)

MedGen UID:
1790497
Concept ID:
C5551484
Disease or Syndrome
Synonyms: Chondrodystrophy with sensorineural deafness; Insley-Astley syndrome; Nance Sweeney chondrodysplasia; OSMEDB
 
Gene (location): COL11A2 (6p21.32)
 
Monarch Initiative: MONDO:0044206
OMIM®: 215150

Definition

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005). [from OMIM]

Additional description

From MedlinePlus Genetics
Severe high-frequency hearing loss is common in people with OSMED. Typical facial features include protruding eyes; a flattened bridge of the nose; an upturned nose with a large, rounded tip; and a small lower jaw. Almost all affected infants are born with an opening in the roof of the mouth (a cleft palate).

People with OSMED are often shorter than average because the long bones in their legs are unusually short. Other skeletal features include enlarged joints; short arms, hands, and fingers; and flattened bones of the spine (platyspondyly). People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life.

Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The term "otospondylomegaepiphyseal" refers to the parts of the body that this condition affects: the ears (oto-), the bones of the spine (spondylo-), and the ends (epiphyses) of long bones in the arms and legs. The features of this condition significantly overlap those of two similar conditions, Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of these conditions are caused by mutations in the same gene, and in some cases, it can be difficult to tell the conditions apart. Some researchers believe they represent a single disorder with a range of signs and symptoms.  https://medlineplus.gov/genetics/condition/otospondylomegaepiphyseal-dysplasia

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Prominent interphalangeal joints
MedGen UID:
395181
Concept ID:
C1859115
Finding
Large tarsal bones
MedGen UID:
349098
Concept ID:
C1859116
Finding
Short 5th metacarpal
MedGen UID:
348858
Concept ID:
C1861388
Finding
Short fifth metacarpal bone.
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).
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Mixed hearing impairment
MedGen UID:
102336
Concept ID:
C0155552
Disease or Syndrome
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Epiphyseal dysplasia
MedGen UID:
95932
Concept ID:
C0392476
Congenital Abnormality
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Coronal cleft vertebrae
MedGen UID:
320483
Concept ID:
C1834954
Finding
Frontal schisis (cleft or cleavage) of vertebral bodies.
Premature osteoarthritis
MedGen UID:
371977
Concept ID:
C1835121
Disease or Syndrome
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Flared metaphysis
MedGen UID:
337976
Concept ID:
C1850135
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Short long bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Beaking of vertebral bodies
MedGen UID:
341588
Concept ID:
C1856599
Finding
Anterior tongue-like protrusions of the vertebral bodies.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Enlarged joints
MedGen UID:
347068
Concept ID:
C1859111
Finding
Increase in size of one or more joints.
Aplasia/Hypoplasia of the capital femoral epiphysis
MedGen UID:
870804
Concept ID:
C4025261
Anatomical Abnormality
Absence or underdevelopment of the proximal epiphysis of the femur.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Isolated Pierre-Robin syndrome
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulties during the neonatal period (summary by Tan et al., 2013).
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Prominent supraorbital ridges
MedGen UID:
333982
Concept ID:
C1842060
Finding
Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.

Recent clinical studies

Diagnosis

Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ
Mol Genet Genomics 2015 Aug;290(4):1327-34. Epub 2015 Jan 30 doi: 10.1007/s00438-015-0995-9. PMID: 25633957Free PMC Article
Karaer K, Rosti RO, Torun D, Sanal HT, Bahçe M, Güran S
Turk J Pediatr 2011 May-Jun;53(3):346-51. PMID: 21980822

Prognosis

Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ
Mol Genet Genomics 2015 Aug;290(4):1327-34. Epub 2015 Jan 30 doi: 10.1007/s00438-015-0995-9. PMID: 25633957Free PMC Article
Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L
Am J Hum Genet 2000 Feb;66(2):368-77. doi: 10.1086/302750. PMID: 10677296Free PMC Article

Clinical prediction guides

Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ
Mol Genet Genomics 2015 Aug;290(4):1327-34. Epub 2015 Jan 30 doi: 10.1007/s00438-015-0995-9. PMID: 25633957Free PMC Article
Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L
Am J Hum Genet 2000 Feb;66(2):368-77. doi: 10.1086/302750. PMID: 10677296Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...