Endocrinology · Endocrinology / Pediatric endocrinology
Septo-optic dysplasia
also: De Morsier syndrome
Optic nerve hypoplasia with midline brain defects and hypopituitarism.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- HESX1, OTX2, PAX6, SOX2, SOX3
- Alternative names & eponyms
- De Morsier syndrome
Etiology & mechanism
Early forebrain developmental defects.
Gene(s) involved (5)
Symptoms & signs (8)
In plain terms, someone with Septo-optic dysplasia may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Pituitary stalk interruption syndrome
growth hormone deficiency, hypoglycemia
2 shared
Sheehan syndrome
hypoglycemia, hypothyroidism
1 shared
Acquired cerebellar syndrome
nystagmus
1 shared
Acute fatty liver of pregnancy syndrome
hypoglycemia
1 shared
Alström syndrome
nystagmus
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
nystagmus
1 shared
Autoimmune polyglandular syndrome type 2
hypothyroidism
1 shared
Benign hereditary chorea
hypothyroidism
1 shared
Crigler–Najjar syndrome
neonatal jaundice
1 shared
Hermansky–Pudlak syndrome
nystagmus
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