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Genetics (Expert Forum)
Septo-Optic Dysplasia, etc.
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
This forum is for questions and support regarding Genetics.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
Septo-Optic Dysplasia, etc.
by MeganW, Oct 19, 2007 01:45PM
My daughter has been diagnosed with Septo-Optic Dysplasia, with hypothalamic dysfunction. She also has hydrocephalus (mild) with ventriculomegaly and a seizure disorder.
She has narrow palpebral fissures and craniofacial distortion (with head circumference in the 25th percentile). Is there any evidence that suggests these things may be connected to any of her diagnoses? She is also globally developmentally delayed. There is no "concrete" reason for her delays. Any thoughts on what might be responsible for this?
Thank you
She has narrow palpebral fissures and craniofacial distortion (with head circumference in the 25th percentile). Is there any evidence that suggests these things may be connected to any of her diagnoses? She is also globally developmentally delayed. There is no "concrete" reason for her delays. Any thoughts on what might be responsible for this?
Thank you
Doctor's Answer
by Lisa Kessler, MS, CGC, Oct 23, 2007 05:18PM
, Oct 23, 2007 05:18PM
It sounds like your daughter has a lot going on, and I hope that this response is helpful. As you know, Septo-Optic Dysplasia (SOD) is condition that includes any combination of optic nerve hypoplasia (underdevelopment or incomplete development), pituitary gland hypoplasia, and abnormalities in the midline of the brain. There have been some case reports published that describe children with a condition called “SOD plus”. These children were diagnosed with SOD and also had other problems such as global developmental delay. Genetic testing is clinically available for SOD. Your daughter may benefit from seeing a pediatric clinical geneticist to help sort out if her other symptoms are related to SOD. You can find a geneticist through the American College of Medical Genetics.
