syndroom van 17q24.2-microdeletie (aandoening)
syndroom van 17q24.2-microdeletie
microdeletie van chromosoom 17q24.2
17q24.2 microdeletion syndrome
A rare genetic multiple congenital anomalies/dysmorphic features-intellectual disability syndrome with characteristics of developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the fifth finger, second to third toe syndactyly), microcephaly, heart defects and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 17
Associated morphologymorfologische afwijking
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
SNOMED CT to Orphanet simple map529962
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified