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acrocraniofaciale dysostose (aandoening)
acrocraniofaciale dysostose
syndroom van Kaplan-Plauchu-Fitch
Acrocraniofacial dysostosis
Kaplan Plauchu Fitch syndrome
A very rare form of acrofacial dysostosis, reported in two sisters to date, with characteristics of short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.
Id720418008
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified