Paula and Bobby
Parents of Lillie
What is Otospondylomegaepiphyseal Dysplasia?
It is a rare genetic syndrome which affects the skeletal system of the body. It also presents with hearing loss and unique facial features. There have been just a few cases of the syndrome diagnosed worldwide. The syndrome and its symptoms are very similar to those of Weissenbacher-Zweymüller syndrome and Stickler syndrome type III, and many researchers believe they are all types of the same syndrome.
This syndrome is also known as:
Chondrodystrophy With Sensorineural Deafness Nance-insley Syndrome Nance-sweeney Chondrodysplasia OSMED Oto-spondylo-megaepiphyseal dysplasia
What gene changes cause Otospondylomegaepiphyseal Dysplasia?
Changes to the COL1A2 gene are responsible for causing the syndrome. The syndrome is inherited in an autosomal recessive and autosomal dominant pattern.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Otospondylomegaepiphyseal Dysplasia?
The main symptoms of the syndrome affect the ears, the bones of the spine and the ends of the long bones in the arms and legs.
Individuals tend to have a short stature as well as short arms, hands and fingers.
Due to skeletal anomalies individuals tend to have back and joint pain, issues with joint movement and arthritis with early onset.
Unique facial features of the syndrome include protruding eyes, flattened bridge of the nose, upturned nose, large nasal tip and a small lower jaw. A cleft palate is very common.
Possible clinical traits/features:
Hyperlordosis, Kyphosis, Abnormality of the skin, Short phalanx of finger, Hypoplasia of the zygomatic bone, Short stature, Pierre-Robin sequence, Platyspondyly (childhood), Sensorineural hearing impairment, Autosomal recessive inheritance, Mixed hearing impairment, Abnormal form of the vertebral bodies, Abnormality of immune system physiology, Large tarsal bones, Micromelia, Micrognathia, Anteverted nares, Lumbar hyperlordosis, Short palm, Synostosis of carpal bones, Prominent interphalangeal joints, Recurrent pneumonia, Ventricular septal defect, Short long bone, Premature osteoarthritis, Strabismus, Midface retrusion, Short metacarpal, Flexion contracture, Coronal cleft vertebrae, Depressed nasal ridge, Flared metaphysis, Enlarged joints, Epiphyseal dysplasia, Limitation of joint mobility, Malar flattening, Cleft palate, Arthralgia, Aplasia/Hypoplasia of the capital femoral epiphysis, Bulbous nose, Abnormality of the metaphysis, Lacrimation abnormality, Abnormality of the eye
How does someone get tested for Otospondylomegaepiphyseal Dysplasia?
The initial testing for Otospondylomegaepiphyseal Dysplasia can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
Medical information on Otospondylomegaepiphyseal Dysplasia
This condition differs clinically from Marshall-Stickler by the absence of myopia, which has not been reported in eleven cases (Kaariainen et al., 1993). One family reported by Miny and Lenz (1985) consisted of two sibs who were the offspring of consanguineous parents, suggesting that this might be an autosomal recessive, compared to Marshall-Stickler which is dominant. Al Gazali and Lytle (1994) also reported three affected sibs with normal parents. The other possible differentiating feature is the presence of limited mobility of the metacarpo-phalangeal joints and, possibly, the greater involvement of the vertebral bodies. The long bone changes are similar to those found in Weissenbacher-Zweymuller syndrome, which is probably not separate from the Marshall-Stickler syndrome.
It is not certain whether the cases reported by Chemke et al., (1992) fall into this group. See Weissenbacher-Zweymuller syndrome for a discussion of this paper. The patients described under the title Weissenbacher-Zweymuller by Rabinowitz et al., (2004), probably have this condition. They were all recessively inherited, and the eye signs were minimal.
Vikkula et al., (1995) and van Steensel et al., (1997) reported a sibship where three individuals had features of this syndrome. A glycine to arginine substitution was demonstrated in the COL11A2 gene. It is of interest that the COL11A2 gene product is not expressed in the mammalian vitreous, as it is replaced by the alpha2 chain of type V collagen. Further null mutations in the COL11A2 gene were reported by Melkoniemi et al., (2000) and Harel et al., (2005).
Pihlajamaa et al., (1998) demonstrated a mutation in the COL11A2 gene in the patient originally described as having Weissenbacher-Zweymuller syndrome (qv) (Weissenbacher and Zweymuller 1964). This would suggest that the Weissenbacher-Zweymuller phenotype can be part of OSMED syndrome. Spranger et al., (1998) reviews conditions caused by mutations in the type XI collagen genes. He recognises a dominant and recessive form of OSMED, together with a phenotype classified as Stickler syndrome type II. Miyamoto et al., (2005) reported a patient with a COL2A1 mutation, highlighting the genetic hetrogeneity of the condition, and Temtamy et al., (2006) reported 2 sibs with COL11A2 mutations. The father had mild sensorineural hearing loss. The patient (with a mutation) reported by Tokgoz\-Yilmaz et al., (2011), developed sensorineural hearing loss at 11 months of age, after normal hearing at birth.
* This information is courtesy of the L M D.
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