Achondroplasia is the most common form of human dwarfism. It is characterised by rhizomelic short stature, macrocephaly with an abnormal cranial base, midface hypoplasia, lumbar lordosis and short limbs. The condition is caused by mutations in the FGFR3 gene. About 80% of affected individuals result from sporadic mutations without positive family histories.
Kozma (2006) described some of the earliest biological evidence of dwarfism from ancient Egypt, dating as far back as 4500 BCE.
Pusch et al. (2004), reported the screening of ancient bone samples for diagnostic achondroplasia mutations. The FGFR3 mutation c.1138G>A was detected in a dry mummy of short stature from the Semerchet tomb, dating approximately 4890-5050 BP.
Bittar (1998) studied 3865 consecutive newborns delivered between 1991 and 1993 and found major congenital anomalies in 64 cases. Many of these cases had achondroplasia.
Al Talabani et al. (1998) studied 24,233 consecutive live and stillbirths in Abu Dhabi and found 4 cases of achondroplasia.
Eapen et al. (1998) carried out a screening program for learning disorders in Al-Ain and identified one case with achondroplasia.
Hosani and Czeizel (2000) reported that out of a total of 4,861 births recorded between March and May of 1998, achondroplasia was identified in one neonate, resulting in an incidence rate of 0.21 per 1,000 births.
Al-Gazali et al. (2003) defined the pattern and birth prevalence of the different types of osteochondrodysplasias in the United Arab Emirates.