Photographs of individuals with HYAL2 deficiency. Key features include frontal bossing, hypertelorism, broad and flattened nasal tip, and auricular anomalies (cupped ears, overfolded helices, preauricular pit) in almost all individuals. Additional variable features include frontal bossing, ptosis, a broad nasal tip, and micrognathia.
A, F. Images of a four-year-old Amish female with surgically repaired bilateral cleft lip and palate, frontal bossing, hypertelorism, micrognathia, and a broad, flat nasal bridge.
B, G. Nine-year-old female sib of the female in A & F with surgically repaired bilateral cleft lip and palate, hypertelorism, micrognathia, a broad, flat nasal bridge, and overfolded superior helices of both ears.
C, H. Surgically repaired bilateral cleft lip and palate, hypertelorism, and a broad and flattened nasal bridge in a 20-year-old Turkish female
D, I. Eight-year-old Polish female with hypertelorism and a broad nasal bridge but no cleft lip or palate
E, J. The Polish female's four-year-old male sib with a left preauricular pit, hypertelorism, and a broad nasal bridge in the absence of cleft lip or palate
K, L. Moderate bilateral ptosis, hypertelorism, a broad nasal bridge, and cupped ears with small overfolded and thickened helices bilaterally in a 19-year-old Italian male with no cleft lip or palate
M. Female infant with right cleft lip and cleft palate, micrognathia, hypertelorism, and a broad nasal bridge; external ear anomalies were reported but cannot be seen in this photograph.
N. Neonatal facial features of the female in M's affected male sib with frontal bossing, mild bilateral ptosis, unilateral cleft lip and cleft palate, micrognathia, hypertelorism, and a broad nasal bridge
O. Four-year-old German boy with surgical repair of right-sided cleft lip and palate, hypertelorism, and a broad nasal bridge
Reproduced with permission from Fasham et al [2022]
Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.