IllnessSeptooptic dysplasia spectrum, differential diagnosis

NGS +

[Sanger]

Clinically heterogeneous disorder with classical triad of optic nerve hypoplasia, pituitary hormone abnormalities, midline brain defects. Diagnosis is made with 2 or more features of the triad. 30% of patients have complete manifestations, 62% display hypopituitarism, 60% have an absent septum pellucidum. The disorder is equally prevalent in both sexes, more common in infants born to younger mothers. Often no mutation(s) detected.

• Alias: De Morsier syndrome
• Alias: Webb-Dattani syndrome
• Allelic: Congenital disorder of glycosylation, type Is (ALG13)
• Allelic: Epileptic encephalopathy, early infantile, 36 (ALG13)
• Allelic: Growth hormone deficiency with pituitary anomalies (HESX1)
• Allelic: Hartsfield syndrome (FGFR1)
• Allelic: Heterotopia, periventricular, 1 (FLNA)
• Allelic: Holoprosencephaly 13, XL (STAG2)
• Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
• Allelic: Hypogonadotropic hypogonadism 3 with/-out anosmia (PROKR2)
• Allelic: Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
• Allelic: Mental retardation, XL, with isolated growth hormone deficiency (SOX3)
• Allelic: Microphthalmia, syndromic 3 (SOX2)
• Allelic: Microphthalmia, syndromic 5 (OTX2)
• Allelic: Mullegama-Klein-Martinez syndrome (STAG2)
• Allelic: Mungan syndrome (RAD21)
• Allelic: Optic nerve hypoplasia (PAX6)
• Allelic: Panhypopituitarism, XL (SOX3)
• Allelic: Pituitary hormone deficiency, combined, 5 (HESX1)
• Allelic: Pituitary hormone deficiency, combined, 6 (OTX2)
• Cornelia de Lange syndrome 4 (RAD21)
• Frontotemporal hypoplasia, delayed development, pituitary + hypothalamic insufficiency (ARNT2)
• Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
• Pituitary hormone deficiency [panelapp] (TCF7L1)
• Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
• Schizencephaly [Lit: Septooptic dysplasia] (EMX2)
• Septooptic dysplasia (HESX1)
• Webb-Dattani syndrome (ARNT2)