Rare, heterogeneous inherited condition of growth retardation characterized by low birth weight, proportionately short stature, and characteristic facies. The variable phenotype includes normal head circumference, micrognathia, triangular face (narrow chin, wide forehead), and sometimes fifth finger clinodactyly and asymmetric limb lengths. Signs and symptoms include failure to thrive, diaphoresis, hemihyperplasia, hypospadias, pallor, and inguinal hernia. Treatment consists of treating the conditions and deficiencies, and includes human growth hormone therapy, physical therapy, early-intervention programs, speech therapy, and dental, orthopedic, and urogenital interventions.
ICD10CM: Q87.19 – Other congenital malformation syndromes predominantly associated with short stature