A 7 years old boy who was born at full term via NSVD to a G2P1 33 years old mother following an uneventful pregnancy. His birth weight was 2 kg. The perinatal and postnatal histories were unremarkable, and he was discharged on the second day. He had jaundice that started within 24 hours and resolved spontaneously. He had recurrent respiratory infections that led to multiple hospital admissions. He was also found to have developmental dysplasia of the hip (DDH) and growth hormone deficiency. Developmentally, he has a global developmental delay. He sat at 1 year, cruised at 18 months and walked after he has a surgical repair of his DDH. He currently can grasp and transfer objects and say mama and babbling, but he can understand and follow commands. Parents are second-degree cousins, and they have another affected male child. On examination, his growth parameters at 7 years of age were weight 11.6 kg, height 94.5 cm and head circumference 46.5 cm, all below the 5th percentile. His dysmorphic features include a bulbous nose, thin upper lip, right elbow deformity, drooling and café au lait spots on his back and right thigh. Other examinations were within normal limits. Brain MRI was reported as normal, and extensive laboratory investigations were within normal limits.