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Thanatophoric dysplasia

MedGen UID:
21124
Concept ID:
C0039743
Congenital Abnormality
Synonym: Thanatophoric dwarfism
SNOMED CT: Thanatophoric dwarfism (29352008); TD - Thanatophoric dwarfism (29352008); Thanatophoric short stature (29352008); Thanatophoric dysplasia (29352008); Thanatophoric dwarfism syndrome (29352008); Thanatophoric dwarf (29352008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related gene: FGFR3
 
Monarch Initiative: MONDO:0017042
Orphanet: ORPHA2655

Disease characteristics

Excerpted from the GeneReview: Thanatophoric Dysplasia
Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type 1 is characterized by micromelia with bowed femurs and, uncommonly, the presence of craniosynostosis of varying severity. TD type 2 is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe craniosynostosis with cloverleaf skull deformity. Other features common to type 1 and type 2 include: short ribs, narrow thorax, relative macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth. Rare long-term survivors have been reported. [from GeneReviews]
Authors:
Tegan French  |  Ravi Savarirayan   view full author information

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Thanatophoric dysplasia in Orphanet.

Professional guidelines

PubMed

Holub M, Sekowská M, Smetanová D, Koudová M, Sobolová K, Šinská A, Heřman H
Ceska Gynekol 2023;88(5):376-379. doi: 10.48095/cccg2023376. PMID: 37932055
Ozdemir O, Aksoy F, Sen C
J Perinat Med 2022 Nov 25;50(9):1239-1247. Epub 2022 Jul 1 doi: 10.1515/jpm-2022-0201. PMID: 35771677
Harada A, Miyashita S, Nagai R, Makino S, Murotsuki J
Congenit Anom (Kyoto) 2019 Jul;59(4):132-141. Epub 2018 Sep 5 doi: 10.1111/cga.12308. PMID: 30132994

Recent clinical studies

Etiology

Mone F, Mellis R, Gabriel H, Baptiste C, Giordano J, Wapner R, Chitty LS
Am J Obstet Gynecol 2023 Apr;228(4):409-417.e4. Epub 2022 Oct 7 doi: 10.1016/j.ajog.2022.09.045. PMID: 36209938
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Sawai H, Oka K, Ushioda M, Nishimura G, Omori T, Numabe H, Kosugi S
Pediatr Int 2019 Aug;61(8):748-753. Epub 2019 Aug 27 doi: 10.1111/ped.13927. PMID: 31247124Free PMC Article
Wang L, Takai Y, Baba K, Mikami Y, Saito M, Horiuchi I, Konno R, Takagi K, Seki H
Taiwan J Obstet Gynecol 2017 Jun;56(3):374-378. doi: 10.1016/j.tjog.2017.04.021. PMID: 28600053
Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF
Can Assoc Radiol J 1999 Jun;50(3):185-97. PMID: 10405653

Diagnosis

Holub M, Sekowská M, Smetanová D, Koudová M, Sobolová K, Šinská A, Heřman H
Ceska Gynekol 2023;88(5):376-379. doi: 10.48095/cccg2023376. PMID: 37932055
Mone F, Mellis R, Gabriel H, Baptiste C, Giordano J, Wapner R, Chitty LS
Am J Obstet Gynecol 2023 Apr;228(4):409-417.e4. Epub 2022 Oct 7 doi: 10.1016/j.ajog.2022.09.045. PMID: 36209938
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Wainwright H
S Afr Med J 2016 May 25;106(6 Suppl 1):S50-3. doi: 10.7196/SAMJ.2016.v106i6.10993. PMID: 27245526

Therapy

Mone F, Mellis R, Gabriel H, Baptiste C, Giordano J, Wapner R, Chitty LS
Am J Obstet Gynecol 2023 Apr;228(4):409-417.e4. Epub 2022 Oct 7 doi: 10.1016/j.ajog.2022.09.045. PMID: 36209938
Chitty LS, Khalil A, Barrett AN, Pajkrt E, Griffin DR, Cole TJ
Prenat Diagn 2013 May;33(5):416-23. Epub 2013 Feb 14 doi: 10.1002/pd.4066. PMID: 23408600Free PMC Article
Jin M, Yu Y, Qi H, Xie Y, Su N, Wang X, Tan Q, Luo F, Zhu Y, Wang Q, Du X, Xian CJ, Liu P, Huang H, Shen Y, Deng CX, Chen D, Chen L
Hum Mol Genet 2012 Dec 15;21(26):5443-55. Epub 2012 Sep 26 doi: 10.1093/hmg/dds390. PMID: 23014564Free PMC Article
Xie Y, Su N, Jin M, Qi H, Yang J, Li C, Du X, Luo F, Chen B, Shen Y, Huang H, Xian CJ, Deng C, Chen L
Hum Mol Genet 2012 Sep 15;21(18):3941-55. Epub 2012 May 24 doi: 10.1093/hmg/dds181. PMID: 22634226
Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT
Am J Med Genet A 2008 Sep 15;146A(18):2385-9. doi: 10.1002/ajmg.a.32485. PMID: 18698630Free PMC Article

Prognosis

Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Gilligan LA, Calvo-Garcia MA, Weaver KN, Kline-Fath BM
Pediatr Radiol 2020 Feb;50(2):224-233. Epub 2019 Nov 27 doi: 10.1007/s00247-019-04537-8. PMID: 31776601
Sawai H, Oka K, Ushioda M, Nishimura G, Omori T, Numabe H, Kosugi S
Pediatr Int 2019 Aug;61(8):748-753. Epub 2019 Aug 27 doi: 10.1111/ped.13927. PMID: 31247124Free PMC Article
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Machado LE, Bonilla-Musoles F, Osborne NG
Ultrasound Obstet Gynecol 2001 Jul;18(1):85-6. doi: 10.1046/j.1469-0705.2001.00402.x. PMID: 11489235

Clinical prediction guides

Carroll RS, Olney RC, Duker AL, Coghlan RF, Mackenzie WG, Ditro CP, Brown CJ, O'Connell DA, Horton WA, Johnstone B, Espiner EA, Prickett TCR, Bober MB
Calcif Tissue Int 2022 Jul;111(1):66-72. Epub 2022 Mar 11 doi: 10.1007/s00223-022-00966-0. PMID: 35275235
Stembalska A, Dudarewicz L, Śmigiel R
Adv Clin Exp Med 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. PMID: 34019743
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Krejci P
Mutat Res Rev Mutat Res 2014 Jan-Mar;759:40-8. Epub 2013 Dec 1 doi: 10.1016/j.mrrev.2013.11.001. PMID: 24295726
Hevner RF
Acta Neuropathol 2005 Sep;110(3):208-21. doi: 10.1007/s00401-005-1059-8. PMID: 16133544

Recent systematic reviews

Mone F, Mellis R, Gabriel H, Baptiste C, Giordano J, Wapner R, Chitty LS
Am J Obstet Gynecol 2023 Apr;228(4):409-417.e4. Epub 2022 Oct 7 doi: 10.1016/j.ajog.2022.09.045. PMID: 36209938

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