The Rubinstein-Taybi syndrome.

Medical Disorders with Associated Dermatoglyphic Abnormalities

“…Distorted and unusually long distal loops were found in the hallucal area in 11 of 16 patients by Padfield et al (1968) and in several patients reported by Giroux and Miller (1967). Berg et al (1966) observed a hallucal pattern containing two loops (U/Lf) in three of their six patients.…”

Dizygotic twins with congenital malalignment of the great toenails: Reappraisal of the pathogenesis

“…33 This suggests that defects of nail development may underlie CMGTN. ''Large toes and toenails'' is a characteristic part of the phenotype of the Rubinstein-Taybi syndrome and reports in the literature describe significant nail abnormalities such as paronychia and hypoplasia of the toenails [34][35][36][37] and, more recently, severe CMGTN 32 in patients with this syndrome. Since genes linked to the Rubinstein-Taybi syndrome belong to the family of homeobox-equivalent genes of morphogenesis, 38 it is convenient to suppose that some of their functions may relate to the appropriate timing of growth rates of different tissues.…”

Multiple anomalies associated with a small extra metacentric autosome.

“…Some patterns are distinctive in their association more commonly with a single chromosome than in normal controls; for example, the arch fibular or arch fibular-S pattern on the hallucal area of the foot associated with D1 trisomy (Uchida, Patau, and Smith, 1962) and the arch tibial associated with Gtrisomy (Cummins, 1939;Walker, 1958). For the most part, however, an increase of some pattern frequencies is more commonly associated with more than a single chromosome and has been observed in apparently euploid but clinically abnormal conditions such as the Rubinstein-Taybi syndrome (Giroux and Miller, 1967;Padfield, Partington, and Simpson, 1968). A large atd angle is most often found in aneuploid conditions involving the 17-18 or 21-22 chromosomes, in XO individuals, and in persons with a deleted 4-5 chromosome (cri-du-chat syndrome) (Alter, 1966).…”