[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 "hearing loss" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

benign recurrent intrahepatic cholestasis

canavan disease

cohen syndrome

congenital toxoplasmosis

dentinogenesis imperfecta

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

neonatal adrenoleukodystrophy

pendred syndrome

von hippel-lindau disease

wolf-hirschhorn syndrome

This symptom has already been validated