[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases].

[kabuki syndrome]

Kabuki syndrome is a genetic entity with multiple anomalies associated with intellectual disability . The clinical diagnosis is based on typical facial features , minor skeletal abnormalities , finger pads , and postnatal growth deficit . Other findings may include congenital heart disease , genitourinary anomalies , oral clefts , anal atresia , increased susceptibility to infections , autoimmune and endocrine disease and hearing loss . The objective of this paper is to describe two patients with clinical diagnosis of Kabuki syndrome , highlighting the phenotypic findings and associated malformations .

Diseases
Validation

Diseases presenting "congenital heart disease" symptom

22q11.2 deletion syndrome

child syndrome

cohen syndrome

congenital diaphragmatic hernia

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

omenn syndrome

phenylketonuria

wolf-hirschhorn syndrome

This symptom has already been validated