Presentation
Entire Body System
- Feeding Difficulties
Some patients experience digestive system problems and have difficulties in nutrition absorption. They require feeding support for survival in early childhood and suffer from chronic constipation. [rarediseases.org]
- Inguinal Hernia
Some common manifestations are delayed growth, short stature, curvature of the spine, dysmorphic face, early onset of cataracts, bilateral inguinal hernia and gastrointestinal problems. [rarediseases.org]
- Fatigue
Due to weak bones and, in some cases, low muscle tone, patients may complain of back pain and fatigue, and display waddling gait. [rarediseases.org]
Gastrointestinal
- Constipation
They require feeding support for survival in early childhood and suffer from chronic constipation. Patients usually have normal speech, hearing and intelligence. [rarediseases.org]
Eyes
- Blue Sclera
Some relatively rare symptoms include seizures, temporary vision loss caused by reduced blood flow in the eye (ocular migraines), ovarian cysts, mild bluish coloration of the whites of the eyes (blue sclerae), reduced sweating, dry skin, skin follicular [rarediseases.org]
Ears
- Macrotia
Macrotia MedGen UID: 488785 •Concept ID: C0152421 • Congenital Abnormality Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent [ncbi.nlm.nih.gov]
Skin
- Dry Skin
Some relatively rare symptoms include seizures, temporary vision loss caused by reduced blood flow in the eye (ocular migraines), ovarian cysts, mild bluish coloration of the whites of the eyes (blue sclerae), reduced sweating, dry skin, skin follicular [rarediseases.org]
- Brittle Hair
hair and hair loss. [rarediseases.org]
- Sweating
Some relatively rare symptoms include seizures, temporary vision loss caused by reduced blood flow in the eye (ocular migraines), ovarian cysts, mild bluish coloration of the whites of the eyes (blue sclerae), reduced sweating, dry skin, skin follicular [rarediseases.org]
- Papule
[…] relatively rare symptoms include seizures, temporary vision loss caused by reduced blood flow in the eye (ocular migraines), ovarian cysts, mild bluish coloration of the whites of the eyes (blue sclerae), reduced sweating, dry skin, skin follicular papules [rarediseases.org]
Neurologic
- Seizure
Some relatively rare symptoms include seizures, temporary vision loss caused by reduced blood flow in the eye (ocular migraines), ovarian cysts, mild bluish coloration of the whites of the eyes (blue sclerae), reduced sweating, dry skin, skin follicular [rarediseases.org]
Treatment
Standard Therapies Treatment There are currently no therapies that target the cause of SEDKF. Patients can be managed with symptomatic/supportive treatment. [rarediseases.org]