Zellweger syndrome

Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies. [Source: Wikipedia ]

Synonyms
Cerebrohepatorenal syndrome
OrphaNet reference
Zellweger syndrome 
May Cause
Atrial septal defect
Camptodactyly
Cataract
Chondral calcification
Clinodactyly
Clinodactyly of fifth finger
Clubfoot
Congenital elbow anomaly
Congenital foot deformity
Congenital heart disease
Congenital hepatomegaly
Congenital hydrocephalus
Congenital macrocephaly
Congenital renal cystic disease
Congenital renal or ureteral anomaly
Congenital skull defect
Congenital splenomegaly
Congenitally limited joint mobility
Cryptorchidism
Deafness
Defective cranial ossification
Delayed bone age
Delayed closure of fontanelles
Dysmyelinating disease
External ear malformation
Glaucoma
Hepatosplenomegaly in a neonate
Hydrocephalus
Hypospadias
Hypospadias or ambiguous external genitalia
Incomplete ossification of cranial sutures
Increased nuchal fold
Intestinal lymphangiectasia
Intra-articular calcification
Irregular epiphyseal ossification centers
Large fontanelle
Leukodystrophy / leukoencephalopathy
Limited joint mobility
Macrocephaly
Malformed patella
Metatarsus adductus
Micrognathia
Multiple abnormal epiphyses
Multiple sclerotic foci in an infant or child
Nephropathy
Neuronal migration disorder
Nuchal cystic hygroma
Nystagmus
Pancreatic dysplasia
Patent ductus arteriosus
Periarticular calcification
Renal cystic disease
Retarded skeletal maturation
Skin dimple
Slipped capital femoral epiphysis
Small orbit
Small thymus in an infant
Soft-tissue calcification
Splenomegaly
Stippled epiphyses
Ventricular septal defect
Wide sutures
Wormian bones
Cerebrohepatorenal syndrome