Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Achondroplasia

Achondroplasia is an autosomal dominant disorder caused by mutations of the FGFR3 gene.

Systematic

Bone dysplasia
Achondroplasia
FGFR3
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Chondrodysplasia of Blomstrand type
Chondrodysplasia, Grebe type
Crouzon syndrome
Eiken syndrome
Failure of tooth eruption
McCune-Albright syndrom
Metaphyseal chondrodysplasia of Murk Jansen type
Muenke syndrome
Osteofibrous dysplasia
Osteopathia striata with cranial sclerosis
Schimke Immunoosseous dysplasia
Thanatophoric dysplasia 1
Thanatophoric dysplasia 2

References:

1.

McKusick VA et. al. (1973) Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

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2.

Superti-Furga A et. al. (1995) A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.

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3.

Bellus GA et. al. (1995) Achondroplasia is defined by recurrent G380R mutations of FGFR3.

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4.

Shiang R et. al. (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.

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5.

Rousseau F et. al. (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

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6.

Huggins MJ et. al. (1999) Achondroplasia-hypochondroplasia complex in a newborn infant.

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7.

Chitayat D et. al. (1999) Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.

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8.

Henderson S et. al. (2000) Germline and somatic mosaicism in achondroplasia.

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9.

Sobetzko D et. al. (2000) Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.

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10.

Yasoda A et. al. (2004) Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway.

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11.

Van Esch H et. al. (2004) Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3.

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12.

Rump P et. al. (2006) Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.

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13.

Heuertz S et. al. (2006) Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

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14.

Natacci F et. al. (2008) Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.

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15.

Matsushita T et. al. (2009) FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.

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16.

Siebens AA et. al. (1978) Curves of the achondroplastic spine: a new hypothesis.

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17.

Oberklaid F et. al. (1979) Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine.

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18.

Hall JG et. al. (1979) Failure to early prenatal diagnosis in classic achondroplasia.

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19.

Horton WA et. al. (1978) Standard growth curves for achondroplasia.

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20.

None (1977) A new estimate of the achondroplasia mutation rate.

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21.

Yang SS et. al. (1977) Upper cervical myelopathy in achondroplasia.

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22.

Young ID et. al. (1992) Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

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23.

Horton WA et. al. (1992) Growth hormone therapy in achondroplasia.

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24.

Finkelstein JE et. al. (1991) Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.

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25.

Hecht JT et. al. (1991) Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates.

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26.

Verloes A et. al. (1991) Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia?

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27.

Martínez-Frías ML et. al. (1991) Epidemiological aspects of Mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes.

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28.

Pulst SM et. al. (1990) The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17.

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29.

Stanescu R et. al. (1990) Homozygous achondroplasia: morphologic and biochemical study of cartilage.

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30.

Andersen PE et. al. (1989) Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey.

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31.

Stoll C et. al. (1989) Birth prevalence rates of skeletal dysplasias.

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32.

Edwards JH et. al. (1988) Neurofibromatosis.

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33.

Francomano CA et. al. (1988) Achondroplasia is not caused by mutation in the gene for type II collagen.

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34.

Eng CE et. al. (1985) Nonrandom association of a type II procollagen genotype with achondroplasia.

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35.

Ogilvie D et. al. (1986) Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.

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36.

Randolph LM et. al. (1988) Achondroplasia with ankylosing spondylitis.

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37.

Hecht JT et. al. (1988) Obesity in achondroplasia.

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38.

Philip N et. al. (1988) Achondroplasia in sibs of normal parents.

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39.

Nelson FW et. al. (1988) Neurological basis of respiratory complications in achondroplasia.

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40.

Pyeritz RE et. al. (1987) Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients.

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41.

Sommer A et. al. (1987) Achondroplasia-hypochondroplasia complex.

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42.

Hecht JT et. al. (1987) Mortality in achondroplasia.

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43.

Dodinval P et. al. (1987) Genetic counselling in unexpected familial recurrence of achondroplasia.

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44.

Orioli IM et. al. (1986) The birth prevalence rates for the skeletal dysplasias.

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45.

Thompson JN et. al. (1986) Achondroplasia and parental age.

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46.

None (1985) Familial recurrence of achondroplasia.

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47.

Rimoin DL et. al. (1970) Endochondral ossification in achondroplastic dwarfism.

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48.

Cohen ME et. al. (1967) Neurological abnormalities in achondroplastic children.

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49.

Wallace DC et. al. (1970) Severe achondroplasia: demonstration of probable heterogeneity within this clinical syndrome.

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50.

Murdoch JL et. al. (1970) Achondroplasia--a genetic and statistical survey.

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51.

None (1968) [A new form of dysostosis with micromelia in 2 siblings].

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52.

Maroteaux P et. al. () Achondroplasia in man and animals.

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53.

None (1966) Renewal of spermatogonia in man.

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54.

Langer LO et. al. (1967) Achondroplasia.

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55.

Aterman K et. al. (1983) Presumed homozygous achondroplasia. A review and report of a further case.

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56.

Reiser CA et. al. (1984) Achondroplasia: unexpected familial recurrence.

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57.

None (1984) "Unstable premutation" in achondroplasia: penetrance vs phenotrance.

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58.

Fryns JP et. al. (1983) Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents.

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59.

Pauli RM et. al. (1983) Homozygous achondroplasia with survival beyond infancy.

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60.

Pauli RM et. al. (1984) Apnea and sudden unexpected death in infants with achondroplasia.

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61.

Fremion AS et. al. (1984) Apnea as the sole manifestation of cord compression in achondroplasia.

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62.

None (1984) Alternative explanations for recurrent achondroplasia in siblings of normal parents.

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63.

Elejalde BR et. al. (1983) Prenatal diagnosis in two pregnancies of an achondroplastic woman.

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64.

Hall JG et. al. (1982) Head growth in achondroplasia: use of ultrasound studies.

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65.

Beighton P et. al. (1981) Gibbal achondroplasia.

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66.

Morgan DF et. al. (1980) Spinal neurological complications of achondroplasia. Results of surgical treatment.

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67.

Pierre-Kahn A et. al. (1980) Hydrocephalus and achondroplasia. A study of 25 observations.

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68.

Pauli RM et. al. (1995) Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia.

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69.

Woods CG et. al. (1994) Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

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70.

Bellus GA et. al. (1994) First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia.

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71.

Velinov M et. al. (1994) The gene for achondroplasia maps to the telomeric region of chromosome 4p.

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72.

Le Merrer M et. al. (1994) A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.

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73.

Francomano CA et. al. (1994) Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.

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74.

Langer LO et. al. (1993) Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type.

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75.

Beighton P et. al. (1993) Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna.

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76.

Peters K et. al. (1993) Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis.

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77.

Waters KA et. al. (1995) Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials.

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78.

Weber G et. al. (1996) Human growth hormone treatment in prepubertal children with achondroplasia.

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79.

Hunter AG et. al. (1996) Standard weight for height curves in achondroplasia.

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80.

Shohat M et. al. (1996) Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia.

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81.

None (1997) Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective.

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82.

None (1997) Molecular evolution--who is in the driver's seat?

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83.

Ellegren H et. al. (1997) Male-driven evolution of DNA sequences in birds.

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84.

Hunter AG et. al. (1998) Medical complications of achondroplasia: a multicentre patient review.

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85.

Tasker RC et. al. (1998) Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study.

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86.

Pauli RM et. al. (1999) Jugular bulb dehiscence in achondroplasia.

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87.

Boor R et. al. (1999) Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia.

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88.

Mettler G et. al. (2000) Recurrence risk for sibs of children with "sporadic" achondroplasia.

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89.

Reynolds KK et. al. (2001) Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia.

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90.

Tiemann-Boege I et. al. (2002) The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect.

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91.

Aviezer D et. al. (2003) Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism.

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92.

Flynn MA et. al. (2003) Double heterozygosity in bone growth disorders: four new observations and review.

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93.

COHN S et. al. (1956) Identical hydrocephalic achondroplastic twins; subsequent delivery of single sibling with same abnormalities.

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94.

None (1957) Parental age in acondroplasia and mongolism.

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95.

DENNIS JP et. al. (1961) Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia.

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96.

Stoll C et. al. (2004) Do parents and grandparents of patients with achondroplasia have a higher cancer risk?

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97.

None (2006) Recent milestones in achondroplasia research.

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98.

None (2006) Dwarfs in ancient Egypt.

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99.

Bernal JE et. al. (2006) Genetic and other diseases in the pottery of Tumaco-La Tolita culture in Colombia-Ecuador.

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100.

Hoover-Fong JE et. al. (2007) Weight for age charts for children with achondroplasia.

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101.

Wynn J et. al. (2007) Mortality in achondroplasia study: a 42-year follow-up.

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102.

Waller DK et. al. (2008) The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.

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103.

None (2008) Skeletal dysplasia in ancient Egypt.

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104.

Lorget F et. al. (2012) Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.

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Update: Sept. 26, 2018