Wolf-Hirschhorn syndrome

A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

Prominent glabella

Forward protrusion of the glabella.


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PMID (PMCID)
15948183
 FEMALE
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.
Rodriguez L, Zollino M, Climent S, Mansilla E, Lopez-Grondona F, Martinez-Fernandez ML, Murdolo M, Martinez-Frias ML.
Am J Med Genet A. 2005;136(2):175-8.
The Wolf-Hirschhorn syndrome (WHS), is a well known contiguous gene syndrome characterized by microcephaly, hypertelorism, prominent glabella, epicanthal folds, cleft lip or palate, cardiac defects, growth and mental retardation and seizures.
7671938
 FEMALE Infant, Newborn
Clinical manifestations of trisomy 4p syndrome.
Patel SV, Dagnew H, Parekh AJ, Koenig E, Conte RA, Macera MJ, Verma RS.
Eur J Pediatr. 1995;154(6):425-31.
After extensive review, it appears that patients retaining at least the distal two-thirds to the entire short arm share an overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia, pointed chin, short neck with low hairline, enlarged ears with abnormal helix and antihelix, rocker-bottom feet with prominent heel.