DPH1

Clinical Characteristics for Families

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