What is Otopalatodigital syndrome?
Otopalatodigital syndrome is a rare genetic syndrome that presents mainly in males due to its mode of inheritance. There are two types of the syndrome, both of which present with similar symptoms- skeletal abnormalities, cleft palate, and hearing loss. However, Type 2 of the syndrome is a much more severe form and generally, individuals with this form of the syndrome do not survive birth or the newborn period.
Syndrome Synonyms:
OPD I Syndrome; OPD Syndrome; OPD; Oto-palato-digital syndrome
What gene changes cause Otopalatodigital syndrome?
Both forms of the syndrome are caused by mutations in the FLNA gene on the X chromosome.
The syndrome is inherited in an X-linked pattern making it much more common amongst males who have only one X chromosome.
What are the main symptoms of Otopalatodigital syndrome?
- Type 1: the main symptoms include a cleft palate, conductive hearing loss (caused by anomalies in the middle ear, a short stature, and short fingers and toes. Other possible symptoms include bent fingers, fused fingers, short fingernails, undeveloped facial bones, and delayed speech and language development. The symptoms in females are usually less developed and fewer and include a depressed nasal bridge, widely spaced eyes, and a flat middle of the face.
- Type 2: this is the more severe form of the syndrome and the symptoms reflect that. They include a small head, broad forehead, widely spaced eyes, small mouth, cleft palate, small jaw, bent fingers, short fingers and toes, and a small chest. Heart defects are also sometimes present. As is intellectual disability. Females will also have less severe symptoms with this type of the syndrome as well.
Possible clinical traits/features:
Frontal bossing, Tarsal synostosis, Synostosis of carpal bones, Scoliosis, Thick skull base, Reduced number of teeth, Flat face, Proximal placement of thumb, X-linked dominant inheritance, Selective tooth agenesis, Sandal gap, Brachydactyly, Bowing of the long bones, Dislocated radial head, Hip dislocation, Downslanted palpebral fissures, Conductive hearing impairment, Nail dystrophy, Malar flattening, Delayed closure of the anterior fontanelle, Limitation of joint mobility, Coxa valga, Craniofacial hyperostosis, Elbow dislocation, Hypertelorism, Short distal phalanx of finger, Prominent occiput, Short hallux, Short 5th metacarpal, Short 4th metacarpal, Short 3rd metacarpal, Hearing impairment, Short stature, Wide nasal bridge, Capitate-hamate fusion, Broad hallux, Broad distal phalanx of the thumb, Bulbous tips of toes, Aplasia/Hypoplasia of the thumb, Abnormality of frontal sinus, Abnormality of the fifth metatarsal bone, Cleft palate, Accessory carpal bones, Nail dysplasia, Absent frontal sinuses.
How is it diagnosed?
To find out if someone has a diagnosis of Otopalatodigital syndrome, 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.
