Progeria minor growth pigmentnaevi syndrome

Mulvihill and Smith, 1975

Prevalence: <1: 1. 000. 000

Neonatal/infant age

Rare progeria syndrome (MIM: 176690) with autosomal-dominant inheritance, signs of premature aging ( progeria), short stature, acute facial shape (deficient formation of the subcutaneous fatty tissue of the face) and multiple melanocytic nevi. Patients with progeria minor growth pigment naevi syndrome continue to show signs of immunodeficiency with a tendency to infections, high voice and progressive loss of hearing and vision. Motor and intellectual development are usually normal or only slightly restricted. Remarkable are the missing hair in the armpits, sparse head hair with normal pubic hair. Other phenomena can be: hypodontia, microstomy, increased tendency to caries, diabetes mellitus.

1. Fühler-Stiller et al. (2011) Suspect pigment tumor in Mulvihill-Smith syndrome. SDDG 9: 308-311
2. Mulvihill JJ Smith DW (1975) Another disorder with prenatal shortness of stature and premature aging. Birth Defects Orig Artic Ser 11: 368-370