Rare Disease Library

Familial articular hypermobility syndrome

Familial joint instability syndrome · Familial joint laxity

Alopecia-contractures-dwarfism-intellectual disability syndrome

ACD-intellectual disability syndrome

Aniridia-ptosis-intellectual disability-familial obesity syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Familial chylomicronemia syndrome

Familial episodic pain syndrome

FEPS

Familial monosomy 7 syndrome

Familial scaphocephaly syndrome

Woolly hair

Familial woolly hair syndrome · Familial wooly hair syndrome