An infantile case of Zellweger syndrome presented with Kabuki-like phenotype.

[zellweger syndrome]

Zellweger syndrome is a peroxisomal disorder resulting from the mutations in PEX genes generally presenting in the neonatal period with profound hypotonia seizures , inability to feed , liver cysts with hepatic dysfunction , chondrodysplasia punctata . Kabuki make-up syndrome is a multiple congenital anomalies and mental retardation syndrome with characteristic facial appearance , skeletal abnormalities , dermatoglyphic abnormalities , mental retardation and short stature . Abnormal liver functions and some atypical findings were also reported in some patients with Kabuki syndrome . In this report a case with late onset Zellweger syndrome who had some phenotypical findings which are also seen in Kabuki Syndrome will be presented . The inclusion of Zellweger syndrome into the differential diagnosis of the patients with Kabuki-like phenotype in addition to abnormal liver functions is emphasized .

Diseases
Validation

Diseases presenting "short stature" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aromatase deficiency

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

congenital adrenal hyperplasia

cowden syndrome

dentin dysplasia

dentinogenesis imperfecta

fabry disease

hirschsprung disease

holt-oram syndrome

kabuki syndrome

kallmann syndrome

kindler syndrome

monosomy 21

oculocutaneous albinism

oligodontia

omenn syndrome

proteus syndrome

werner syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated