Baumeister et al. (1993) found 9 observations of a unique form of hypertrichosis which they suggested should be called Ambras syndrome in reference to the first documented case. Furthermore, they reinvestigated a Greek girl with this disorder, described ... Baumeister et al. (1993) found 9 observations of a unique form of hypertrichosis which they suggested should be called Ambras syndrome in reference to the first documented case. Furthermore, they reinvestigated a Greek girl with this disorder, described as a newborn by Sigalas et al. (1990). The girl was found to have a pericentric inversion (8)(p11.2q22). Her persistent generalized hypertrichosis was most excessive on the face, ears, and shoulders. The fine silky hair was of the vellus, not the lanugo type. Baumeister et al. (1993) stated that the first well-documented observation concerned a man named Petrus Gonzales, who was born in the Canary Islands in 1556. Two daughters, a son, and a grandchild were similarly affected. The family was also referred to as 'the family of Ambras,' after the castle near Innsbruck where their portraits are still shown (e.g., Cockayne, 1933). One of the documented reports selected by Baumeister et al. (1993) was that by Macias-Flores et al. (1984) of a family in which X-linked dominant inheritance was suggested (307150). Figuera and Cantu (1994) insisted that the disorder in the kindred reported by Macias-Flores et al. (1984) was clinically and genetically distinct from the Ambras syndrome. In the apparently X-linked disorder, the overgrowth of hair involves mainly the upper part of the body and the hair is short and curly without other alterations, while in Ambras syndrome, there is a more diffuse distribution of the hypertrichosis, the hair is fine and long, other skin appendages are involved, and dysmorphic features are present. Balducci et al. (1998) likewise described Ambras syndrome associated with an inversion of chromosome 8 but a paracentric rather than pericentric inversion: inv(8)(q12q22). The girl presented in the newborn period with abundant dark hair on the face and ears, shoulders and arms; the other parts of the body were covered with fine, lightly pigmented hair. No alterations were found in plasma antigen levels. Baumeister (2000) suggested that the patient reported by Balducci et al. (1998) had hypertrichosis universalis (145700) and not Ambras syndrome. He stated that Ambras syndrome differs from other forms of congenital hypertrichosis by its associated anomalies and its pattern of hair distribution, especially on the face. The forehead, eyelids, nose (an especially important site of involvement), cheeks, and preauricular regions are uniformly covered with hair, reaching a length of several decimeters if not shaved. The hypertrichosis of the external ears is typical; if not cut, long curls protrude from the external auditory canal. In the patient reported by Balducci et al. (1998), the facial hair was not uniformly distributed; it was accentuated in the frontal, temporal, and preauricular regions. Hypertrichosis of the nose was not present and hypertrichosis of the ears was not prominent. Baumeister (2000) provided a photograph of a 16-year-old boy with extraordinary facial hypertrichosis. In a rebuttal to Baumeister (2000), Cianfarani (2000) pointed out that in both the case reported by Balducci et al. (1998) and that reported by Baumeister et al. (1993) there was a chromosome abnormality involving 8q22. He pointed out further that 'modern genetics teaches us that identical mutations result in highly variable combinations of clinical features: phenotypic heterogeneity.'