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Septo-optic dysplasia: antenatal risk factors and clinical features in a regional study
Navoda Atapattu1, John Ainsworth, Harry Willshaw
1Department of Endocrinology, Birmingham Children's Hospital, Birmingham, UK.
Insights
Septo-optic dysplasia (SOD) is linked to younger parental ages and ethnic variations. Increased first-trimester bleeding suggests a potential vascular disruption in SOD development.
Area of Science:
- Pediatric Endocrinology
- Developmental Biology
- Genetics
Background:
- Septo-optic dysplasia (SOD) is a complex disorder with suspected environmental and genetic influences.
- Understanding the clinical spectrum and epidemiological factors of SOD is crucial for diagnosis and management.
Purpose of the Study:
- To delineate the clinical features of Septo-optic dysplasia (SOD).
- To investigate potential perinatal environmental factors associated with SOD.
- To determine the epidemiology of SOD in a specific UK region.
Main Methods:
- Retrospective assessment of patients with SOD triad features (midline defects, optic nerve hypoplasia, hypopituitarism) in the UK West Midlands.
- Data collection on patient demographics, clinical presentation, and maternal/paternal factors.
Main Results:
- SOD incidence was 8.3/100,000 live births, with 88 children meeting the criteria for SOD (2/3 features).
- Common features included optic nerve hypoplasia (149/227) and hypopituitarism (132/227), with 61% experiencing anterior pituitary deficiency.
- Significantly younger maternal (21 years) and paternal (23.5 years) ages, increased first-trimester bleeding (25%), and ethnic variations were observed.
Conclusions:
- SOD is associated with younger parental age, primigravida births, and distinct ethnic prevalence patterns.
- The high incidence of first-trimester bleeding suggests SOD may arise from a vascular disruption sequence.
- These findings highlight key risk factors and potential etiological pathways for SOD.
Background:
Septo-optic dysplasia (SOD) is a disorder with postulated environmental and genetic aetiology. This study delineates clinical features and potential perinatal environmental factors along with epidemiology in SOD children.
Methods:
Assessment of patients with SOD triad features in the UK West Midlands region.
Results:
Of 227 patients identified between 1998 and 2009 with 1 or more feature of the triad, 55 had midline defects, 149 had optic nerve hypoplasia and 132 had hypopituitarism. Eighty-eight children (52% males; incidence 8.3/100,000 live births) had SOD defined as 2 out of 3 features and 21 (24%) had all 3. Sixty-one percent had anterior pituitary deficiency and 21.5% had diabetes insipidus. Median maternal/paternal ages in SOD were 21 and 23.5 years, compared to UK means of 29.3 and 32.4 years (p < 0.001). First trimester bleeding was markedly increased at 12/48 (25%) compared to 0.07% in the UK (p < 0.001). Ethnicity showed a non-significant higher prevalence in Afro-Caribbean and mixed race groups, and significantly lower prevalence (p = 0.004) in South Asian groups compared to West Midland and Birmingham city data: 8% versus 2.5 and 6.7%, 9% versus 1.8 and 3.2% and 3% versus 8.4 and 21%, respectively.
Conclusions:
SOD is associated with younger maternal and paternal age, primigravida births and ethnic differences. Increased first trimester bleeding may indicate that SOD is a vascular disruption sequence.
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