Autosomal recessive hereditary disorder	Developmental hereditary disorder	Multiple malformation syndrome with limb defect as major feature	Syndactyly
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Syndactyly type 7 (disorder)
	Cenani Lenz syndrome
	Syndactyly type 7 Cenani Lenz syndactyly Cenani syndactyly
	A congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. Fewer than 30 cases have been described, the majority of cases occurred in related families. The syndrome affects both the upper and lower limbs but, in general, the latter are less severely affected. Associated malformations (renal hypoplasia and vertebral and hemi-vertebral anomalies) have occasionally been reported. Mild facial dysmorphism has been described in isolated cases. The disease is transmitted as an autosomal recessive trait. Homozygous or compound heterozygous mutations of the LRP4 gene (11p12-p11.2) have been identified.
	syndactylie type 7
	Cenani-syndactylie syndroom van Cenani-Lenz

Id	720633009
Status	Primitive

Associated morphology	Congenital abnormal fusion
Finding site	Digit structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.2
Rule	TRUE
Advice	ALWAYS Q87.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified