Diseases

Hallermann's Syndrome

hallermann's syndrome

Basic Information

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Description: NCI2016_02D:A very rare syndrome characterized by multiple congenital abnormalities including abnormally shaped head, mandibular hypoplasia, parrot nose, bilateral congenital cataracts, microphthalmia, dwarfism and hypotrichosis.|MSH2017_2016_08_12:An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), parrot nose, mandibular hypoplasia, proportionate nanism, hypotrichosis, bilateral congenital cataracts, and microphthalmia. (Dorland, 27th ed)|JABL99:A bulging skull with brachycephaly, beaked nose, cataracts, microphthalmia and receding chin giving the face its peculiar bird-like appearance. Associated defects include hypotrichosis, short stature, occasional mental deficiency and skeletal, hepatic, muscular, and renal anomalies.

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target disease8 Targets

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apolipoprotein E

gap junction protein alpha 1