• 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]

• 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]

• 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]

• 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]

• 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]

• 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]

Standard Therapies Treatment There are currently no therapies that target the cause of SEDKF. Patients can be managed with symptomatic/supportive treatment. [rarediseases.org]