What is Otospondylomegaepiphyseal Dysplasia?
Otospondylomegaepiphyseal Dysplasia 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.
This syndrome is also known as:
Chondrodystrophy with Sensorineural Deafness; Nance-Insley Syndrome; Nance-Sweeney; Chondrodysplasia OSMED; Oto-spondylo-megaepiphyseal dysplasia; Formerly, Weissenbacher-Zweymuller syndrome: WZS; Pierre-Robin syndrome with Fetal Chondrodysplasia Stickler Syndrome, Non-ocular type; Stickler syndrome, type III, formerly.
What gene changes cause Otospondylomegaepiphyseal Dysplasia?
Changes to the COL11A2 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 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, a flattened bridge of the nose, an upturned nose, a 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 is it diagnosed?
To find out if someone has a diagnosis of Otospondylomegaepiphyseal Dysplasia, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
