MEN2 can present with a sign or symptom related to a tumor or, in the case of multiple endocrine neoplasia type 2b, with characteristic musculoskeletal and/or lip and/or gastrointestinal findings.

[citation needed] Medullary thyroid carcinoma (MTC) represents the most frequent initial diagnosis.

[citation needed] MEN2B associates medullary thyroid carcinoma with pheochromocytoma in 50% of cases, with marfanoid habitus and with mucosal and digestive neurofibromatosis.

[citation needed] The table in the multiple endocrine neoplasia article lists the genes involved in the various MEN syndromes.

[4] The protein produced by the RET gene plays an important role in the TGF-beta (transforming growth factor beta) signaling system.

[citation needed] MEN2B is additionally characterized by the presence of mucocutaneous neuroma, gastrointestinal symptoms (e.g. constipation and flatulence), and muscular hypotonia.

[citation needed] The common feature among the three sub-types of MEN2 is a high propensity to develop medullary thyroid carcinoma.

[8] Management of MEN2 patients includes thyroidectomy including cervical central and bilateral lymph nodes dissection for MTC, unilateral adrenalectomy for unilateral pheochromocytoma or bilateral adrenalectomy when both glands are involved and selective resection of pathologic parathyroid glands for primary hyperparathyroidism.

Familial genetic screening is recommended to identify at risk subjects who will develop the disease, permitting early management by performing prophylactic thyroidectomy, giving them the best chance of cure.