DPH1

Clinical Characteristics

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 / size
    o    Trigonocephaly
    o    Brachycephaly
    o    Craniosynostosis
    o    Microcephaly
    o    Macrocephaly
•    A spectrum of CNS malformations
    o    Agenesis of corpus callosum
    o    Hydrocephalus
    o    Dandy Walker malformation
•    Facial dysmorphism
•    Sparse hair on scalp, eyelashes or eyebrow
•    Abnormal toenails
•    Variable hand/foot anomalies
    o    Brachydactyly
    o    Syndactyly
    o    Tapering fingers
    o    Pes planus
    o    Overriding toes

Facial features often reported amongst affected individuals include:
•    Broad forehead / prominent forehead
•    Downslanting palpebral fissures
•    Hypertelorism
•    Flat/depressed nasal speech

Less common findings:
•    Epilepsy
•    Hypotonia
•    Behavioral problems
    o    Autistic spectrum disorder
    o    ADHD
•    Loose skin
•    Dental abnormalities
    o    Dental malalignment
    o    Impacted teeth
•    Heart malformation
    o    Ventricular septal defect/cardiomyopathy
•    Renal anomalies
    o    Horse-shoe kidneys
•    Abnormal external genitalia
•    Endocrine problem
    o    Hypothyroidism
    o    Growth hormone deficiency