New syndrome characterized by sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay

Am J Med Genet. 2001 Jun 1;101(1):70-3. doi: 10.1002/ajmg.1305.


A brother and a sister show very similar clinical features, including sparse hair in the first year of life, prominent nose, small mouth, micrognathia, high arched palate or cleft palate, crumpled upper helices, flexion limitation of the distal interphalangeal joint of the fingers, and mild developmental delay. Their clinical appearance suggests a premature aging phenotype, but is not really compatible with the hitherto known syndromes of that group. The mode of inheritance is likely autosomal recessive.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Abnormalities, Multiple* / pathology
  • Aging, Premature / diagnosis
  • Aging, Premature / genetics
  • Cleft Palate
  • Ear / abnormalities
  • Female
  • Fingers / abnormalities
  • Hair / abnormalities
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Micrognathism
  • Mouth Abnormalities
  • Nose / abnormalities
  • Phenotype
  • Syndrome
  • Toes / abnormalities