Microcephalic primordial dwarfism, Montreal type

Microcephalic primordial dwarfism, Montreal type is a rare, multi-systemic genetic disorder that is characterized by cranio-facial dysmorphy, premature hair greying and balding, dry and wrinkled palms, skeletal abnormalities, cryptorchidism, premature dementia and intellectual disabilities of variable severity.

Presentation

People with this disorder often show the following symptoms:

Normal birth weight but dwarfism later in life
Early-onset dementia
Premature hair greying and loss
Wrinkled palms
Small head
Big eyes
Narrow face
Receding chin
Intellectual disabilities
Abnormally small brain
Cryptorchidism
Prominent nose
Low set ears
Earlobe hypoplasia-aplasia

Etymology

This disorder was discovered in the early fall of 1970, in Montreal, Canada, when Fitch et al. described a patient with a type of bird-headed dwarfism, he described the symptoms mentioned above, some of the symptoms suggested a diagnosis of either Werner syndrome, Seckel syndrome, Hallermann-Streiff syndrome, or Noonan syndrome. However, the authors thought there were differences that distinguished this particular case from any other syndrome, suggesting it to be separated into an entity of its own. No more cases of this disorder have been reported since then.