Achondroplasia

Alternative Names

  • ACH
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

100800

Mode of Inheritance

Autosomal dominant

Gene Map Locus

4p16.3

Description

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.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
100800.1.1ArabUnknownNo Disproportionate short stature; Macroce... NM_000142.4:c.1138G>AHeterozygousAutosomal, DominantFalik-Zaccai et al. 2000
100800.2LebanonUnknownYes NM_000142.4:c.2419T>GHeterozygousAutosomal, DominantJalkh et al. 2019
100800.3United Arab EmiratesMaleNoYes Global development delay; Short stature... NM_000142.4:c.1138G>AHeterozygousSaleh et al. 2021 de novo mutation
100800.4Saudi ArabiaMaleYes Delayed speech and language development;... NM_000142.4:c.1138G>AHeterozygousAutosomal, DominantMaddirevula et al. 2018 De novo mutation
100800.5Saudi ArabiaMaleNo Short stature; Frontal bossing; Trigonoc... NM_000142.4:c.1138G>AHeterozygousAutosomal, DominantMaddirevula et al. 2018 De novo mutation
100800.6Saudi ArabiaFemaleNo Short stature; Macrocephaly... NM_000142.4:c.1138G>AHeterozygousAutosomal, DominantMaddirevula et al. 2018 De novo mutation
100800.7Saudi ArabiaFemale Depressed nasal bridge; Relative macroce... NM_000142.4:c.1138G>AHeterozygousAutosomal, DominantMaddirevula et al. 2018 Mutation is de novo....
100800.8Saudi ArabiaFemaleYes Macrocephaly; Short stature; Global deve... NM_000142.4:c.1138G>AHeterozygousAutosomal, DominantMaddirevula et al. 2018 De novo mutation
100800.G.1Arab; Algeria; Iraq; M...UnknownNo Disproportionate short stature; Macroce... NM_000142.4:c.1138G>CHeterozygousAutosomal, DominantFalik-Zaccai et al. 2000 Group comprising of ...

Other Reports

Egypt

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. 

Lebanon

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.

United Arab Emirates

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.

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