Autosomal recessive hereditary disorder	Developmental hereditary disorder	Dysostosis of bone of skull	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with facial-limb defects as major feature
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Acrocraniofacial dysostosis (disorder)
	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.
	acrocraniofaciale dysostose
	syndroom van Kaplan-Plauchu-Fitch

Id	720418008
Status	Primitive

Associated morphology	Dysplasia
Finding site	Bone structure of cranium
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Limb structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified