weeks of gestation. All suffered with the features of Young–Madders syndrome, with varying cardiac problems and facial deformities. The distinctive bilateral polydactyly and overlapping of the cranial skull plates were present, though some had no deformities in their internal organs while others had lung deformities alone. Hydrocephalus and holoprosencephaly were present in all. The publication noted the work of Young and Madders and suggested that the cases were linked, and also identified two cases from a year previously - 1986 - which had until then been diagnosed as Smith–Lemli–Opitz syndrome. The doctors discounted several other similar genetic conditions including Varadi–Papp syndrome and Grote syndrome, and discarded the term 'pseudotrisomy 13 syndrome' as misleading, preferring 'holoprosencephaly-polydactyly syndrome'. Further research After the publications by Verloes, A., S. Aymé et al. 'holoprosencephaly-polydactyly syndrome' became the preferred term. Doctors Hennekam and Van Noort published later in 1991 an account of further case studies involving a brother and sister which emphasised the involvement of genetic heart defects. They also noted that the parents were second-cousins. A pair of siblings with holoprosencephaly and hypoplasia were recognised in 1993, with one of the siblings having polydactyly. By 1994 a sufferer had been identified with a median cleft lip, cardiac and genital deformities which matched those found by Young and Madders. A review of twenty-two reported cases took place, finding 20 instances of polydactyly. Blood tests and karyotype were normal, further evidencing a distinction between the condition and that of Trisomy 13. In 2000 another case was published were the parents were first cousins, thus providing more evidence that the condition was autosomal recessive. In 2006 a report in the Journal of Human Genetics on a male patient with all the symptoms of Young–Madders syndrome - including severe facial deformities and mild intellectual disability - built upon a 1993 genetic study to identify duplicate codings and other anomalies on gene FBXW11 as a possible cause of the condition. References External links Genetic diseases and disorders Autosomal recessive disorders Syndromes