Otopalatodigital syndrome spectrum disorder
MONDO:0018233Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.
Also known as: OPD spectrum disorder, OPSD
2 clinical trials for this condition and its sub-types, 0 tagged with Otopalatodigital syndrome spectrum disorder itself.
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Browse by category →Sub-types of Otopalatodigital syndrome spectrum disorder
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Frontometaphyseal dysplasia 2 trials
2 sub-types
- Frontometaphyseal dysplasia 2 2 trials
- Frontometaphyseal dysplasia 1 0 trials
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Melnick-Needles syndrome 0 trials
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Otopalatodigital syndrome 0 trials
2 sub-types
- Otopalatodigital syndrome type 1 0 trials
- Otopalatodigital syndrome type 2 0 trials
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