致死性骨異形成症 TD
WordNet
- abnormal development (of organs or cells) or an abnormal structure resulting from such growth
PrepTutorEJDIC
- touchdown; touchdowns / Treasury Department
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/10 18:54:31」(JST)
[Wiki en表示]
| Thanatophoric dysplasia |
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Radiogram of a baby born with thanatophoric dwarfism
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| Classification and external resources |
| ICD-10 |
Q77.1 |
| OMIM |
187600 |
| DiseasesDB |
29403 |
| eMedicine |
ped/2233 |
| MeSH |
D013796 |
Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs.
Contents
- 1 Symptoms
- 2 Causes
- 3 Classification
- 4 Prognosis
- 5 Incidence and prevalence
- 6 References
- 7 External links
Symptoms
Infants with this condition have disproportionately short arms and legs with extra folds of skin. Other signs of the disorder include a narrow chest, small ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Thanatophoric dysplasia is a lethal skeletal dysplasia divided into two subtypes. Type I is characterized by extreme rhizomelia, bowed long bones, narrow thorax, a relatively large head, normal trunk length and absent cloverleaf skull. The spine shows platyspondyly, the cranium has a short base, and, frequently, the foramen magnum is decreased in size. The forehead is prominent, and hypertelorism and a saddle nose may be present. Hands and feet are normal, but fingers are short. Type II is characterized by short, straight long bones and cloverleaf skull.[1] It presents with typical telephone handled shaped long bones and a H-shaped vertebrae.
Causes
It can be associated with missense mutations in fibroblast growth factor receptor-3.[2][3]
Classification
Infants with type 1 thanatophoric dysplasia also have curved thigh bones, flattened bones of the spine (platyspondyly) and shortened thoracic ribs. Note: Prenatal ultra-sound images of the ribs sometimes appear asymmetrical when in fact they are not. In certain cases, this has caused a misdiagnosis of Osteogenisis Imperfecta (OI) type II.
An unusual head shape called kleeblattschädel ("cloverleaf skull") can be seen with type 2 thanatophoric dysplasia.[4]
Prognosis
The term thanatophoric is Greek for "death bearing". Children with this condition are usually stillborn or die shortly after birth from respiratory failure, however a small number of individuals have survived into childhood and a very few beyond. Survivors have difficulty breathing on their own and require respiratory support such as high flow oxygen through a canula or ventilator support via tracheostomy. There may also be evidence of spinal stenosis and seizures. The oldest known living TD survivor is a 29-year old female. [5] Another male lived to age 20. Two children with TD aged 10 and 12, a male and a female, are known in Germany. There is also a 6-year old male living with TD and two 1-year old males.[6]
Incidence and prevalence
This condition affects about 1 in 60,000 births.[7]
References
- ^ http://www.thefetus.net/page.php?id=383
- ^ Bonaventure J, Gibbs L, Horne WC, Baron R (2007). "The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor". FEBS J. 274 (12): 3078–93. doi:10.1111/j.1742-4658.2007.05835.x. PMID 17509076.
- ^ Lievens PM, Liboi E (2003). "The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum". J. Biol. Chem. 278 (19): 17344–9. doi:10.1074/jbc.M212710200. PMID 12624096.
- ^ Norman AM, Rimmer S, Landy S, Donnai D (1992). "Thanatophoric dysplasia of the straight-bone type (type 2)". Clin. Dysmorphol. 1 (2): 115–20. doi:10.1097/00019605-199204000-00008. PMID 1345514.
- ^ http://onlinelibrary.wiley.com/doi/10.1002/ccr3.29/full
- ^ Baker, K. M.; Olson, D. S.; Harding, C. O.; Pauli, R. M. (1997). "Long-term survival in typical thanatophoric dysplasia type 1". American Journal of Medical Genetics 70 (4): 427–436. doi:10.1002/(SICI)1096-8628(19970627)70:4<427::AID-AJMG18>3.0.CO;2-J. PMID 9182787.
- ^ Vajo, Zoltan, Francomano CA, Wilkin DJ (2000). "The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans". Endocr. Rev. 21 (1): 23–39. doi:10.1210/er.21.1.23. PMID 10696568.
External links
- GeneReview/NCBI/NIH/UW entry on Thanatophoric Dysplasia
- Thanatophoric dysplasia at NLM Genetics Home Reference
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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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Index of bones and cartilage
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| Description |
- Anatomy
- bones
- skull
- face
- neurocranium
- compound structures
- foramina
- upper extremity
- torso
- pelvis
- lower extremity
- Physiology
- Development
- Cells
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| Disease |
- Congenital
- Neoplasms and cancer
- Trauma
- Other
- Symptoms and signs
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| Treatment |
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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 Müllerian 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
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Index of cells
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| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
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| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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UpToDate Contents
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English Journal
- Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases.
- Barkova E1, Mohan U, Chitayat D, Keating S, Toi A, Frank J, Frank R, Tomlinson G, Glanc P.
- Clinical genetics.Clin Genet.2015 Apr;87(4):330-7. doi: 10.1111/cge.12434. Epub 2014 Jul 26.
- Fetal skeletal dysplasias are a heterogeneous group of rare genetic disorders, affecting approximately 2.4-4.5 of 10,000 births. We performed a retrospective review of the perinatal autopsies conducted between the years 2002-2011 at our center. The study population consisted of fetuses diagnosed wit
- PMID 24863959
- A new prescription for growth? Statins, cholesterol and cartilage homeostasis.
- Bush JR1, Bérubé NG2, Beier F3.
- Osteoarthritis and cartilage / OARS, Osteoarthritis Research Society.Osteoarthritis Cartilage.2015 Apr;23(4):503-6. doi: 10.1016/j.joca.2015.01.002. Epub 2015 Jan 13.
- PMID 25595698
- Mutant activated FGFR3 impairs endochondral bone growth by preventing SOX9 downregulation in differentiating chondrocytes.
- Zhou ZQ1, Ota S1, Deng C2, Akiyama H3, Hurlin PJ4.
- Human molecular genetics.Hum Mol Genet.2015 Mar 15;24(6):1764-73. doi: 10.1093/hmg/ddu594. Epub 2014 Nov 28.
- Fibroblast growth factor receptor 3 (FGFR3) plays a critical role in the control of endochondral ossification, and bone growth and mutations that cause hyperactivation of FGFR3 are responsible for a collection of developmental disorders that feature poor endochondral bone growth. FGFR3 is expressed
- PMID 25432534
Japanese Journal
- 症例報告 出生前にthanatophoric dysplasiaと診断し,家族と周産期管理方針を構築した1例
- 症例報告 出生前に3次元CTで診断した双胎1児thanatophoric dysplasia typeⅠの1例
- 胎児期に発見される骨系統疾患のわが国における発症頻度
- 佐藤 尚明,室月 淳,澤井 英明
- 日本周産期・新生児医学会雑誌 = Journal of Japan Society of Perinatal and Neonatal Medicine 45(4), 1005-1007, 2009-12-20
- NAID 10029090642
Related Links
- 本研究は胎児・新生児の骨系統疾患に遭遇した医師が適切な診断を早期に行い、医療・療育につなげることを目的としています。本研究班は産科・放射線科・小児科・整形外科・分子遺伝学の領域で、胎児や新生児の骨系統疾患を専門 ...
- Skeletal Dysplasia in eMedicineには多くのオンライン上で見ることのできる骨系統疾患のレントゲンや患者さんの写真が掲載されています。 SKELNET SKELNETはドイツの骨系統疾患についての情報提供サイトです。 Skeletal Dysplasia in ...
Related Pictures
★リンクテーブル★
[★]
- 英
- thanatophoric dysplasia TD
- 同
- 致死性小人症、タナトフォリック骨異形成症
- 関
- 致死性四肢短縮型低身長症
参考
- 奇形症候群分野 致死性骨異形成症(平成22年度) - 難病情報センター
- http://www.nanbyou.or.jp/entry/787
OMIM
- 1. #187600. THANATOPHORIC DYSPLASIA, TYPE I; TD1
- http://omim.org/entry/187601
- 2. #187601. THANATOPHORIC DYSPLASIA, TYPE II; TD2
- http://omim.org/entry/187600
[★]
[★]
- 英
- thanatophoric dysplasia TD
- 同
- 致死性骨異形成症
[★]
- 関
- タナトフォリック