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Asphyxiating thoracic dystrophy 2(SRTD2)

MedGen UID:
370804
Concept ID:
C1970005
Disease or Syndrome
Synonyms: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SHORT-RIB THORACIC DYSPLASIA 2 WITH POLYDACTYLY; SHORT-RIB THORACIC DYSPLASIA 2 WITHOUT POLYDACTYLY; SRTD2
 
Gene (location): IFT80 (3q25.33)
 
Monarch Initiative: MONDO:0012644
OMIM®: 611263

Definition

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). [from OMIM]

Additional description

From MedlinePlus Genetics
Some people with asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as rapid breathing or shortness of breath. These individuals may live into adolescence or adulthood. After infancy, people with this condition may develop life-threatening kidney (renal) abnormalities that cause the kidneys to malfunction or fail. Heart defects and a narrowing of the airway (subglottic stenosis) are also possible. Other, less common features of asphyxiating thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the pancreas, dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss.

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.  https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Broad palm
MedGen UID:
75535
Concept ID:
C0264142
Congenital Abnormality
For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Mesomelia
MedGen UID:
107808
Concept ID:
C0549306
Congenital Abnormality
Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Narrow chest
MedGen UID:
96528
Concept ID:
C0426790
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.

Term Hierarchy

Professional guidelines

PubMed

Oestreich MA, Keller F, Bovermann X, Braun D, Schiller R, Raio L, Zweier C, Casaulta C, Usemann J, Kidszun A, Popa-Todirenchi MH
Klin Padiatr 2024 Feb;236(2):145-147. Epub 2024 Jan 15 doi: 10.1055/a-2235-6201. PMID: 38224688

Recent clinical studies

Therapy

O'Brien A, Roth MK, Athreya H, Reinker K, Koeck W, Patil V, Trevino H, Simmons J, Joshi AP, Smith MD, Campbell RM
J Pediatr Orthop 2015 Dec;35(8):783-97. doi: 10.1097/BPO.0000000000000383. PMID: 25575358
Sacco Casamassima MG, Goldstein SD, Salazar JH, Papandria D, McIltrot KH, O'Neill DE, Abdullah F, Colombani PM
J Pediatr Surg 2014 Jan;49(1):55-60; discussion 60. Epub 2013 Oct 5 doi: 10.1016/j.jpedsurg.2013.09.027. PMID: 24439581
Betz RR, Mulcahey MJ, Ramirez N, Flynn JM, Smith JT, St Hilaire T, Campbell RM
J Pediatr Orthop 2008 Dec;28(8):850-3. doi: 10.1097/BPO.0b013e31818e19a4. PMID: 19034177
Rogers AH, Rogers GL, Bremer DL, McGregor ML
Ophthalmology 1999 Jun;106(6):1186-9; discussion 1189-90. doi: 10.1016/S0161-6420(99)90266-X. PMID: 10366091
Sarimurat N, Elçioğlu N, Tekant GT, Eliçevik M, Yeker D
Eur J Pediatr Surg 1998 Apr;8(2):100-1. doi: 10.1055/s-2008-1071131. PMID: 9617610

Prognosis

Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium, Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E
Genet Med 2020 Dec;22(12):2041-2051. Epub 2020 Aug 5 doi: 10.1038/s41436-020-0915-1. PMID: 32753734Free PMC Article
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
Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K, Knoers NV, Roepman R, Mitchison HM
J Med Genet 2013 May;50(5):309-23. Epub 2013 Mar 1 doi: 10.1136/jmedgenet-2012-101284. PMID: 23456818Free PMC Article
Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V
J Med Genet 2013 Feb;50(2):91-8. doi: 10.1136/jmedgenet-2012-101282. PMID: 23339108
Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC
Am J Med Genet A 2011 May;155A(5):1021-32. Epub 2011 Apr 4 doi: 10.1002/ajmg.a.33892. PMID: 21465651

Clinical prediction guides

Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Pilotto E, Midena E, Longhin E, Frizziero L
Retin Cases Brief Rep 2022 Mar 1;16(2):183-185. doi: 10.1097/ICB.0000000000000956. PMID: 31958104
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium, Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E
Genet Med 2020 Dec;22(12):2041-2051. Epub 2020 Aug 5 doi: 10.1038/s41436-020-0915-1. PMID: 32753734Free PMC Article
Sacco Casamassima MG, Goldstein SD, Salazar JH, Papandria D, McIltrot KH, O'Neill DE, Abdullah F, Colombani PM
J Pediatr Surg 2014 Jan;49(1):55-60; discussion 60. Epub 2013 Oct 5 doi: 10.1016/j.jpedsurg.2013.09.027. PMID: 24439581
Keppler-Noreuil KM, Adam MP, Welch J, Muilenburg A, Willing MC
Am J Med Genet A 2011 May;155A(5):1021-32. Epub 2011 Apr 4 doi: 10.1002/ajmg.a.33892. PMID: 21465651

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