Rare Disease Library

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

Familial generalized lentiginosis

Familial lentigines profusa · Familial multiple lentigines syndrome without systemic involvement

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Familial monosomy 7 syndrome

Familial multinodular goiter

Familial multinodular goiter syndrome · FMNG

Familial multiple discoid fibromas

Familial multiple trichodiscomas

Familial multiple lipomatosis

Familial multiple meningioma

Familial multiple nevi flammei

Familial multiple port-wine stains

Familial scaphocephaly syndrome

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

Lethal multiple pterygium syndrome

Autosomal recessive lethal multiple pterygium syndrome · LMPS

Multiple evanescent white dot syndrome

MEWDS

Multiple pterygium syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Woolly hair

Familial woolly hair syndrome · Familial wooly hair syndrome

X-linked lethal multiple pterygium syndrome