Individuals with Developmental delay with short stature, dysmorphic features and sparse hair (DEDSSH) are commonly found to have:
• A variable degree of Intellectual disability (moderate to profound)
• Short stature
• Abnormal head shape / (flat and broad head, small or big head )
• Brain structure abnormalities (e.g. Amount of fluid in brain compartment increased / certain part of the brain not forming well)
• Abnormal facial features
• Sparse hair on scalp, eyelashes or eyebrow
• Abnormal toenails
• Variable hand/foot anomalies (e.g. short fingers, flat feet)
Facial features often reported amongst affected individuals include:
• Broad forehead / prominent forehead
• Lateral eye corners are much lower than medial eye corners
• Eyes are positioned far away (hypertelorism)
• Flat/depressed nose
Less common findings:
• Epilepsy
• Low muscle tone
• Behavioral problems (e.g. Autistic features, ADHD)
• Loose skin
• Dental problems (e.g. malaligned teeth, impacted teeth)
• Heart problems (e.g. hole in heart compartments, heart muscle problem)
• Renal problems (e.g. abnormal shaped kidneys)
• Abnormal genitalia
• Hormonal problems
DPH1