The characteristic facies of the following may resemble that of Downs syndrome:
(C) Zellweger syndrome# ZELLWEGER SYNDROME: Children demonstrate facial dysmorphology with a prominent forehead, large anterior fontanellae, epicanthal folds, micrognathia, high arched palate, and deformed ear lobes.> Characteristic Zellweger syndrome facies may resemble that of Downs syndrome.> Other features include profound hypotonia, hepatic dysfunction, hepatomegaly, retinal degeneration, sensorineural hearing loss, renal cysts and calcific stippling of the epiphyses.> Peroxismol biogenesis disorders (PBDs) include Zellweger syndrome, Neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IR), & Rhizomelic chondrodysplasia punctata (RCP).> Zellweger syndrome, NALD, and IRD represent a spectrum of disroders with similar and overlapping clinical features.
Rhizomelic chondrodysplasia
Infantile Refsum disease
Zellweger syndrome
Neonatal adreno leukodystrophy
Miscellaneous