Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

Hypoventilation

A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).


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PMID (PMCID)
28085742
 OTHER
Neuroblastoma in a Child With Wolf-Hirschhorn Syndrome.
Ozcan A, Acer H, Ciraci S, Gumus H, Karakukcu M, Patiroglu T, Ozdemir MA, Unal E.
J Pediatr Hematol Oncol. 2017;39(4):e224-e226.
Neuroblastoma has also been diagnosed in conjunction with other congenital conditions such as Hirschsprung's disease, congenital hypoventilation disorder, and neurofibromatosis type 1.