Autozomálně dominantní
Caused by loss-of-function changes in one copy of TBX3, a gene that guides development of the limbs, breasts and other organs. It can be inherited from an affected parent, and features vary widely within families.
Příznaky a projevy
Differences on the little-finger side of the hand and forearm range from a small or extra little finger to ulnar limb defects. Underdeveloped breasts or nipples, reduced underarm sweating, and delayed puberty or small genitals are common. Less often there are dental differences or short stature.
Co se diagnózou změní
Hand and orthopaedic assessment, endocrine review of growth and puberty, and dental checks. Genetic counselling explains the risk of passing on the change; relatives with mild features may also carry it.
Analyzované geny
Známé také jako
Pallister ulnar-mammary syndrome; Schinzel Syndrome; ulnar-mammary syndrome of Pallister; UMS
