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Orphanet Rare Disease Ontology
| Preferred Name | Otopalatodigital syndrome spectrum disorder | |
| Synonyms |
OPD spectrum disorder OPSD |
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| Definitions |
Otopalatodigital 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 includes 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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_364541 |
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| alternative_term |
OPD spectrum disorder OPSD
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| definition |
Otopalatodigital 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 includes 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.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=364541 |
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| hasDbXref |
UMLS:C2748918 MedDRA:10084408 MeSH:C567577
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| label |
Otopalatodigital syndrome spectrum disorder
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| notation |
ORPHA:364541 Clinical group
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| prefixIRI |
ORDO:Orphanet_364541
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| prefLabel |
Otopalatodigital syndrome spectrum disorder
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| subClassOf |
http://www.orpha.net/ORDO/Orphanet_364526 |
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