[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 "heart disease" symptom

22q11.2 deletion syndrome

achondroplasia

acute rheumatic fever

adrenal incidentaloma

child syndrome

classical phenylketonuria

cohen syndrome

congenital diaphragmatic hernia

dentinogenesis imperfecta

esophageal adenocarcinoma

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

omenn syndrome

phenylketonuria

sneddon syndrome

systemic capillary leak syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

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