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Otopalatodigital syndrome

Orpha number ORPHA669
Synonym(s) Taybi syndrome
Prevalence <1 / 1 000 000
Inheritance X-linked dominant
Age of onset Infancy
  • Q87.0
MeSH -
MedDRA -


Otopalatodigital (OPD) syndrome is a rare genetic disorder marked by the association of skeletal dysplasia, hearing loss, cleft palate, and a characteristic face (with hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and downslanted palpebral fissures). More than 30 cases have been reported. Two types of OPD have been described (OPD 1 and OPD2); type 2 is more severe. The presence of bowed long bones, missing fibulae, fanned-out toes, flexed fingers, syndactyly, polydactyly and the general severity of the acral X-ray anomalies allow the two forms to be distinguished. Most patients have mild intellectual deficit (IQ ranging between 75 and 90), which may be related to the conductive hearing loss. OPD syndromes type 1 and 2 belong to the phenotypic spectrum of fronto-oto-palato-digital osteodyplasia that encompasses Melnick-Needles syndrome, fronto-metaphyseal dysplasia and OPD type 1 and 2. These syndromes are X-linked disorders with sometimes minimal expression in carrier females, and are all caused by mutations in the FLNA gene encoding the cytoskeletal protein filamin A. Pathophysiology of the disease remains unknown. Prenatal diagnosis is feasible.Multidisciplinary management (orthopaedic, paediatric, ear nose and throat, genetic counselling, etc.) must be adapted to each patient . Prognosis depends on the severity of the signs.

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Detailed information

Practical genetics
  • EN (2006,pdf)
Clinical genetics review
  • EN (2013)
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