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Otospondylomegaepiphyseal dysplasia, autosomal dominant(OSMEDA)

MedGen UID:: 341234
•Concept ID:: C1848488
•: Disease or Syndrome

Synonyms:	COL11A2-Related Stickler Syndrome; OSMED, HETEROZYGOUS; OSMEDA; Pierre Robin syndrome with fetal chondrodysplasia; PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA STICKLER SYNDROME, NONOCULAR TYPE; Stickler syndrome nonocular type; Stickler syndrome, type 3; STICKLER SYNDROME, TYPE III; Weissenbacher-Zweymuller syndrome
Modes of inheritance:	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. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	COL11A2 (6p21.32)

Monarch Initiative:	MONDO:0008490
OMIM®:	184840
Orphanet:	ORPHA166100

Disease characteristics

Excerpted from the GeneReview: Stickler Syndrome

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity. [from GeneReviews]

Authors:
Nathaniel H Robin | Rocio T Moran | Leena Ala-Kokko view full author information

Additional description

From OMIM
Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994). http://www.omim.org/entry/184840

Clinical features

From HPO

Arthralgia

MedGen UID:: 13917
•Concept ID:: C0003862
•: Sign or Symptom

Joint pain.

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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.

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Epiphyseal dysplasia

MedGen UID:: 95932
•Concept ID:: C0392476
•: Congenital Abnormality

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Enlarged epiphyses

MedGen UID:: 318846
•Concept ID:: C1833328
•: Finding

Increased size of epiphyses.

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Premature osteoarthritis

MedGen UID:: 371977
•Concept ID:: C1835121
•: Disease or Syndrome

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Platyspondyly

MedGen UID:: 335010
•Concept ID:: C1844704
•: Finding

A flattened vertebral body shape with reduced distance between the vertebral endplates.

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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.

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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 difficulaties during the neonatal period (summary by Tan et al., 2013).

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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.

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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).

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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.

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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).

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Abnormality of the eye

MedGen UID:: 1370071
•Concept ID:: C4316870
•: Anatomical Abnormality

Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

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Show all Hide all

Abnormality of head or neck
Abnormality of the eye
- Abnormality of the eye
Abnormality of the musculoskeletal system
Constitutional symptom
- Arthralgia
Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Otospondylomegaepiphyseal dysplasia, autosomal dominant

Follow this link to review classifications for Otospondylomegaepiphyseal dysplasia, autosomal dominant in Orphanet.

Recent clinical studies

Diagnosis

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

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: 25633957 Free PMC Article

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Prognosis

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

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: 10677296 Free PMC Article

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