Dwarfism is usually already apparent prenatally and continues postnatally through restricted growth. Bone changes may occur during early childhood, such as skinny, long bones with a thick cortex and a narrow medullary canal, fibrous dysplasia of the long bones, a J-shaped sella turcica, and scaphocephaly. The face of children with Mulibrey nanism is often triangular in shape, with a high and broad forehead and a flat nasal bridge, and there may be yellowish spots in the middle peripheral area of the retina and a high-pitched voice. Other abnormalities during early childhood may include hepatomegaly, cutaneous naevi flammei, pericardial constriction, feeding problems, pneumonia, and recurring respiratory infections.
Benign and malignant tumors: Cysts in various organs, peliosis of the liver, adrenal adenomas, parathyroid adenomas, thyroid nodules, cystic adenomas, renal angiomyolipoma, ovarian fibrothecoma, pheochromocytoma, and Langerhans cell histiocytosis of the CNS. Nephroblastomas, papillary renal cell carcinomas, papillary and medullary thyroid carcinomas, ovarian carcinomas, endometrial carcinoma, and acute lymphoblastic leukemia.