Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Otopalatodigital syndrome

Orpha number ORPHA669
Synonym(s) Taybi syndrome
Prevalence <1 / 1 000 000
Inheritance
  • X-linked dominant
Age of onset Neonatal/infancy
ICD-10
  • Q87.0
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Practical genetics
  • EN (2006,pdf)
Clinical genetics review
  • EN (2013)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.