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
DPH1