Table 3.

Selected Genes of Interest in the Differential Diagnosis of HYAL2 Deficiency

Gene(s)DisorderMOIKey Features of This Disorder
Overlapping w/HYAL2 DeficiencyDistinguishing from HYAL2 Deficiency
ALX1
ALX3
ALX4 		Frontonasal dysplasia (OMIM PS136760)AR
  • Hypertelorism, nasal anomalies, midline orofacial clefts
  • Congenital cardiac defects incl tetralogy of Fallot
  • Abnormalities of hair incl V-shaped "widow's peak" anterior hairline
  • Severe myopia absent
  • Pectus excavatum absent
COL2A1
COL11A1
COL11A2
COL9A1
COL9A2
COL9A3 		Stickler syndrome AD
AR 1

Cleft palate, myopia, retinal detachment, auditory issues

  • Characteristic facial features
  • Skeletal abnormalities
EFNB1 Craniofrontonasal syndrome (OMIM 304110)XLHypertelorism, nasal anomalies, orofacial clefts
  • Craniosynostosis
  • Presentation in males is usually mild.

AR = autosomal recessive; MOI = mode of inheritance; XL = X-linked

1.

Stickler syndrome caused by pathogenic variants COL2A1, COL11A1, or COL11A2 is inherited in an autosomal dominant manner; Stickler syndrome caused by pathogenic variants in COL9A1, COL9A2, or COL9A3 is inherited in an autosomal recessive manner.

From: HYAL2 Deficiency

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