軟骨低形成症
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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/05/08 15:45:59」(JST)
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Hypochondroplasia |
Classification and external resources |
ICD-10 |
Q77.4 |
OMIM |
146000 |
DiseasesDB |
32832 |
GeneReviews |
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Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3)[1] that results in a disproportionately short stature, micromelia,[2] and a head that appears large when compared with the underdeveloped portions of the body. It is also known as "achondroplasia tarda" and "atypical achondroplasia."
It is classified as short-limbed dwarfism.[3]
Contents
- 1 Features
- 2 Pathophysiology
- 3 Treatment
- 4 Etiology
- 5 Epidemiology
- 6 See also
- 7 References
- 8 External links
Features
People affected by this disorder appear normal at birth. As the infant grows, however, their arms and legs do not develop properly and their body becomes thicker and shorter than normal. The head is normal but appears large due to the underdevelopment of other parts of the body, a symptom called "relative macrocephaly".
The clinical and radiographic features of this disorder are milder than those seen in achondroplasia.
Intelligence is usually normal.
Pathophysiology
This disorder results from mutations in the proximal tyrosine kinase domain of the FGFR3 gene. This gene plays an important role in embryonic development, playing a part in regulating activities such as cell division, migration, and differentiation.
Treatment
Standard treatment of hypochondroplasia usually takes the form of orthopedic surgery and physical therapy. Genetic counseling is advised for patients and their families.
Etiology
This disorder is transmitted as an autosomal dominant trait affecting the FGFR3 gene on chromosome 4p16.3.[4] There is no cure for this condition.
Epidemiology
Females tend to be affected more often than males.
See also
References
- ^ Santos HG, Almeida M, Fernandes H, Wilkie A (2007). "Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS". Am. J. Med. Genet. A 143 (4): 355–9. doi:10.1002/ajmg.a.31556. PMID 17256796.
- ^ Rousseau F, Bonaventure J, Legeai-Mallet L, et al. (1996). "Clinical and genetic heterogeneity of hypochondroplasia". J. Med. Genet. 33 (9): 749–52. doi:10.1136/jmg.33.9.749. PMC 1050728. PMID 8880574.
- ^ "Hypochondroplasia - Genetics Home Reference". Retrieved 2009-03-12.
- ^ Heuertz S, Le Merrer M, Zabel B, et al. (2006). "Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia". Eur. J. Hum. Genet. 14 (12): 1240–7. doi:10.1038/sj.ejhg.5201700. PMID 16912704.
External links
- GeneReview/NIH/UW entry on Hypochondroplasia
Osteochondrodysplasia (Q77–Q78, 756.4–756.5)
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Osteodysplasia//
osteodystrophy |
Diaphysis |
- Camurati–Engelmann disease
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Metaphysis |
- Metaphyseal dysplasia
- Jansen's metaphyseal chondrodysplasia
- Schmid metaphyseal chondrodysplasia
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Epiphysis |
- Spondyloepiphyseal dysplasia congenita
- Multiple epiphyseal dysplasia
- Otospondylomegaepiphyseal dysplasia
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Osteosclerosis |
- Raine syndrome
- Osteopoikilosis
- Osteopetrosis
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Other/ungrouped |
- FLNB
- Opsismodysplasia
- Polyostotic fibrous dysplasia
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Chondrodysplasia/
chondrodystrophy
(including dwarfism) |
Osteochondroma |
- osteochondromatosis
- Hereditary multiple exostoses
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Chondroma/enchondroma |
- enchondromatosis
- Ollier disease
- Maffucci syndrome
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Growth factor receptor |
FGFR2: |
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FGFR3: |
- Achondroplasia
- Thanatophoric dysplasia
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COL2A1 collagen disease |
- Achondrogenesis
- Hypochondrogenesis
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SLC26A2 sulfation defect |
- Achondrogenesis
- Autosomal recessive multiple epiphyseal dysplasia
- Atelosteogenesis, type II
- Diastrophic dysplasia
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Chondrodysplasia punctata |
- Rhizomelic chondrodysplasia punctata
- Conradi–Hünermann syndrome
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Other dwarfism |
- Fibrochondrogenesis
- Short rib – polydactyly syndrome
- Majewski's polydactyly syndrome
- Léri–Weill dyschondrosteosis
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anat (c/f/k/f, u, t/p, l)/phys/devp/cell
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noco/cong/tumr, sysi/epon, injr
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Genetic disorder, membrane: cell surface receptor deficiencies
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G protein-coupled receptor
(including hormone) |
Class A |
- TSHR (Congenital hypothyroidism 1)
- LHCGR (Male-limited precocious puberty)
- FSHR (XX gonadal dysgenesis)
- EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
- AVPR2 (Nephrogenic diabetes insipidus 1)
- PTGER2 (Aspirin-induced asthma)
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Class B |
- PTH1R (Jansen's metaphyseal chondrodysplasia)
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Class C |
- CASR (Familial hypocalciuric hypercalcemia)
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Class F |
- FZD4 (Familial exudative vitreoretinopathy 1)
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Enzyme-linked receptor
(including
growth factor) |
RTK |
- ROR2 (Robinow syndrome)
- FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
- FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome)
- FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
- INSR (Donohue syndrome
- Rabson–Mendenhall syndrome)
- NTRK1 (Congenital insensitivity to pain with anhidrosis)
- KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
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STPK |
- AMHR2 (Persistent Mullerian duct syndrome II)
- TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
- TGFBR1/TGFBR2 (Loeys-Dietz syndrome)
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GC |
- GUCY2D (Leber's congenital amaurosis 1)
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JAK-STAT |
- Type I cytokine receptor: GH (Laron syndrome)
- CSF2RA (Surfactant metabolism dysfunction 4)
- MPL (Congenital amegakaryocytic thrombocytopenia)
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TNF receptor |
- TNFRSF1A (TNF receptor associated periodic syndrome)
- TNFRSF13B (Selective immunoglobulin A deficiency 2)
- TNFRSF5 (Hyper-IgM syndrome type 3)
- TNFRSF13C (CVID4)
- TNFRSF13B (CVID2)
- TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
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Lipid receptor |
- LRP: LRP2 (Donnai–Barrow syndrome)
- LRP4 (Cenani–Lenz syndactylism)
- LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
- LDLR (LDLR Familial hypercholesterolemia)
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Other/ungrouped |
- Immunoglobulin superfamily: AGM3, 6
- Integrin: LAD1
- Glanzmann's thrombasthenia
- Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR Hypohidrotic ectodermal dysplasia)
- PTCH1 (Nevoid basal cell carcinoma syndrome)
- BMPR1A (BMPR1A Juvenile polyposis syndrome)
- IL2RG (X-linked severe combined immunodeficiency)
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- See also
- cell surface receptors
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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UpToDate Contents
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English Journal
- Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
- Linnankivi T, Mäkitie O, Valanne L, Toiviainen-Salo S.SourceDepartment of Pediatric Neurology, Children's Hospital, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland. tarja.linnankivi@hus.fi.
- American journal of medical genetics. Part A.Am J Med Genet A.2012 Dec;158A(12):3119-25. doi: 10.1002/ajmg.a.35642. Epub 2012 Nov 19.
- Hypochondroplasia (HCH), an autosomal dominant skeletal dysplasia caused by mutations in the FGFR3 gene, has not been commonly associated with neurological problems. Temporal lobe dysgenesis associated with epilepsy was recently described in single patients. In this retrospective study, we assessed
- PMID 23165795
- Hypochondroplasia in a Child With 1620c>G (Asn540lys) Mutation in FGFR3.
- Korkmaz HA, Hazan F, Dizdarer C, Tükün A.SourceDr.Behcet Uz Children Disease and Surgery Training and Research Hospital, Department of Pediatric Endocrinology, Izmir, Turkey. drkorkmazanil@hotmail.com.
- Journal of clinical research in pediatric endocrinology.J Clin Res Pediatr Endocrinol.2012 Nov 12. doi: 10.4274/jcrpe.787. [Epub ahead of print]
- Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACP). Fibroblast growth factor receptor 3 gene (FGFR3) mutations in the germline are w
- PMID 23149434
Japanese Journal
- 軟骨無形成症・軟骨低形成症 (特集 小児内分泌疾患の診断と治療 : 日本と世界の異同から考える今後の展望)
- 軟骨低形成症 (特集 軽症あるいは軽度小児内分泌疾患の定義と治療適応・治療戦略)
Related Links
- The clinical and radiologic features above have all been described in hypochondroplasia, but a consensus opinion of which or how many of these features must be present to confirm a clinical diagnosis does not currently exist. The ...
- Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most people with hypochondroplasia have average-size parents ...
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- 英
- hypochondroplasia
- 関
- 軟骨、軟骨形成不全症