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Table 2 Comparison of clinical abnormalities with Achondroplasia (ACH) and Silver-Russell syndrome (SRS)

From: FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset

Clinical abnormalities Achondroplasia (ACH) Silver-Russell syndrome (SRS) Our patient
Prenatal IUGR - + +
Special face
 macrocephaly - + +
 broad foreheads + - +
 pointed - + +
 triangular shaped - + +
 nose bridge collapse + - +
 small chins - + +
Hand
 a trident configuration of the hands + - +
 fifth finger clinodactyly - + +
Body
 asymmetry of limbs - + +
 vertebrae scoliosis thoracic kyphosis Scoliosis and thoracic kyphosis
Hypotonia - + +
Developmental delay - + +
Delayed speech - + +
Intellectual disability - + +
Feeding difficulties in early childhood - + +
Snoring (coarse breath sounds) + - +