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otopalatodigitaal syndroom type 2 (aandoening)
otopalatodigitaal syndroom type 2
OPD2
OPD-syndroom type 2
Oto-palato-digital syndrome, type II
Otopalatodigital syndrome type 2
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected.
Id42432003
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van palatum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified