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Asphyxiating thoracic dystrophy 1(ATD1; SRTD1)

MedGen UID:: 1648057
•Concept ID:: C4551856
•: Congenital Abnormality; Disease or Syndrome

Synonym:	Short-rib thoracic dysplasia 1 with or without polydactyly

Cytogenetic location:	15q13

Monarch Initiative:	MONDO:0008831
OMIM®:	208500

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). Genetic Heterogeneity of Asphyxiating Thoracic Dysplasia SRTD1 has been mapped to chromosome 15q13. See also SRTD2 (611263), caused by mutation in the IFT80 gene (611177); SRTD3 (613091), caused by mutation in the DYNC2H1 gene (603297); SRTD4 (613819), caused by mutation in the TTC21B gene (612014); SRTD5 (614376), caused by mutation in the WDR19 gene (608151); SRTD6 (263520), caused by mutation in the NEK1 gene (604588); SRTD7 (614091), caused by mutation in the WDR35 gene (613602); SRTD8 (615503), caused by mutation in the WDR60 gene (615462); SRTD9 (266920), caused by mutation in the IFT140 gene (614620); SRTD10 (615630), caused by mutation in the IFT172 gene (607386); SRTD11 (615633), caused by mutation in the WDR34 gene (613363); SRTD13 (616300), caused by mutation in the CEP120 gene (613446); SRTD14 (616546), caused by mutation in the KIAA0586 gene (610178); SRTD15 (617088), caused by mutation in the DYNC2LI1 gene (617083); SRTD16 (617102), caused by mutation in the IFT52 gene (617094); SRTD17 (617405), caused by mutation in the TCTEX1D2 gene (617353); SRTD18 (617866), caused by mutation in the IFT43 gene (614068); SRTD19 (617895), caused by mutation in the IFT81 gene (605489); SRTD20 (617925), caused by mutation in the INTU gene (610621); and SRTD21 (619479), caused by mutation in the KIAA0753 gene (617112). See also SRTD12 (Beemer-Langer syndrome; 269860). [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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. https://medlineplus.gov/genetics/condition/asphyxiating-thoracic-dystrophy

Clinical features

From HPO

Proteinuria

MedGen UID:: 10976
•Concept ID:: C0033687
•: Finding

Increased levels of protein in the urine.

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Chronic kidney disease

MedGen UID:: 473458
•Concept ID:: C1561643
•: Disease or Syndrome

Functional anomaly of the kidney persisting for at least three months.

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Renal insufficiency

MedGen UID:: 332529
•Concept ID:: C1565489
•: Disease or Syndrome

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.

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Renal cyst

MedGen UID:: 854361
•Concept ID:: C3887499
•: Disease or Syndrome

A fluid filled sac in the kidney.

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Hand polydactyly

MedGen UID:: 510636
•Concept ID:: C0158733
•: Congenital Abnormality

A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.

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Foot polydactyly

MedGen UID:: 510637
•Concept ID:: C0158734
•: Congenital Abnormality

A kind of polydactyly characterized by the presence of a supernumerary toe or toes.

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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.

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Short phalanx of finger

MedGen UID:: 163753
•Concept ID:: C0877165
•: Finding

Short (hypoplastic) phalanx of finger, affecting one or more phalanges.

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Fibular hypoplasia

MedGen UID:: 316909
•Concept ID:: C1832119
•: Finding

Underdevelopment of the fibula.

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Hypoplasia of the ulna

MedGen UID:: 395934
•Concept ID:: C1860614
•: Congenital Abnormality

Underdevelopment of the ulna.

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Pulmonary valve insufficiency

MedGen UID:: 11031
•Concept ID:: C0034088
•: Pathologic Function

The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Jaundice

MedGen UID:: 43987
•Concept ID:: C0022346
•: Sign or Symptom

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.

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Pancreatic cysts

MedGen UID:: 45293
•Concept ID:: C0030283
•: Disease or Syndrome

A cyst of the pancreas that possess a lining of mucous epithelium.

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Autosomal dominant polycystic liver disease

MedGen UID:: 56388
•Concept ID:: C0158683
•: Disease or Syndrome

Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).

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Hepatic fibrosis

MedGen UID:: 116093
•Concept ID:: C0239946
•: Disease or Syndrome

The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.

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Bile duct proliferation

MedGen UID:: 120603
•Concept ID:: C0267818
•: Disease or Syndrome

Proliferative changes of the bile ducts.

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Pancreatic fibrosis

MedGen UID:: 120607
•Concept ID:: C0267952
•: Disease or Syndrome

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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.

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Lateral clavicle hook

MedGen UID:: 98426
•Concept ID:: C0426805
•: Finding

An excessive upward convexity of the lateral clavicle.

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Short ribs

MedGen UID:: 98094
•Concept ID:: C0426817
•: Finding

Reduced rib length.

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Thoracic dysplasia

MedGen UID:: 853272
•Concept ID:: C1406921
•: Congenital Abnormality

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Metaphyseal irregularity

MedGen UID:: 325478
•Concept ID:: C1838662
•: Finding

Irregularity of the normally smooth surface of the metaphyses.

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Irregular epiphyses

MedGen UID:: 337584
•Concept ID:: C1846449
•: Finding

An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.

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Cone-shaped epiphyses of the phalanges of the hand

MedGen UID:: 347156
•Concept ID:: C1859480
•: Finding

A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.

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Hypoplastic iliac wing

MedGen UID:: 351279
•Concept ID:: C1865027
•: Anatomical Abnormality

Underdevelopment of the ilium ala.

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Hypoplastic pelvis

MedGen UID:: 760700
•Concept ID:: C3536734
•: Anatomical Abnormality

Underdevelopment of the bony pelvis.

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Horizontal ribs

MedGen UID:: 812840
•Concept ID:: C3806510
•: Finding

A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.

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Early ossification of capital femoral epiphyses

MedGen UID:: 870187
•Concept ID:: C4024621
•: Anatomical Abnormality

Developmental acceleration of ossification of the proximal epiphysis of the femur.

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Respiratory insufficiency

MedGen UID:: 11197
•Concept ID:: C0035229
•: Pathologic Function

Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.

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Pulmonary hypoplasia

MedGen UID:: 78574
•Concept ID:: C0265783
•: Congenital Abnormality

A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.

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Recurrent respiratory infections

MedGen UID:: 812812
•Concept ID:: C3806482
•: Finding

An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.

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Nephritis

MedGen UID:: 14328
•Concept ID:: C0027697
•: Disease or Syndrome

The presence of inflammation affecting the kidney.

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Conjugated hyperbilirubinemia

MedGen UID:: 82787
•Concept ID:: C0268307
•: Disease or Syndrome

Abnormally high level of conjugated bilirubin in the blood.

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Retinal degeneration

MedGen UID:: 48432
•Concept ID:: C0035304
•: Finding

A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.

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Show all Hide all

Abnormality of limbs
Abnormality of metabolism/homeostasis
- Conjugated hyperbilirubinemia
Abnormality of the cardiovascular system
- Pulmonary valve insufficiency
Abnormality of the digestive system
Abnormality of the eye
- Retinal degeneration
Abnormality of the genitourinary system
Abnormality of the immune system
- Nephritis
Abnormality of the musculoskeletal system
Abnormality of the respiratory system
Growth abnormality
- Short stature

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVJeune thoracic dystrophy
- CROGVAsphyxiating thoracic dystrophy 1
- CROGVAsphyxiating thoracic dystrophy 2
- CROGVAsphyxiating thoracic dystrophy 3
- CROGVAsphyxiating thoracic dystrophy 4
- CROGVAsphyxiating thoracic dystrophy 5

Inherited renal tubular disease
- Jeune thoracic dystrophy
  - Asphyxiating thoracic dystrophy 1

Professional guidelines

PubMed

Thoracic insufficiency syndrome: Approaches to assessment and management.

Tsukahara K, Mayer OH
Paediatr Respir Rev 2022 Dec;44:78-84. Epub 2022 Mar 7 doi: 10.1016/j.prrv.2022.02.003. PMID: 35339395 Free PMC Article

Prenatal Diagnosis of Jeune Syndrome by Whole-Exome Sequencing in a Case With Mild Skeletal Changes.

Adamo L, Kassif E, Jacobson JM, Achiron R
J Ultrasound Med 2020 Sep;39(9):1869-1871. Epub 2020 Mar 10 doi: 10.1002/jum.15266. PMID: 32154601

Chest wall hypoplasia--principles and treatment.

Mayer OH
Paediatr Respir Rev 2015 Jan;16(1):30-4. Epub 2014 Nov 5 doi: 10.1016/j.prrv.2014.10.012. PMID: 25434647

See all (5)

Recent clinical studies

Etiology

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.

Peng Y, Zhou L, Chen J, Huang X, Pang J, Liu J, Tang W, Yang S, Liang C, Xie W
BMC Med Genomics 2023 Dec 7;16(1):318. doi: 10.1186/s12920-023-01753-y. PMID: 38062428 Free PMC Article

Thoracic insufficiency syndrome: Approaches to assessment and management.

Tsukahara K, Mayer OH
Paediatr Respir Rev 2022 Dec;44:78-84. Epub 2022 Mar 7 doi: 10.1016/j.prrv.2022.02.003. PMID: 35339395 Free PMC Article

Clinical phenocopies of albinism.

Dumitrescu AV, Pfeifer WL, Drack AV
J AAPOS 2021 Aug;25(4):220.e1-220.e8. Epub 2021 Jul 17 doi: 10.1016/j.jaapos.2021.03.015. PMID: 34280564

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA
Nat Cell Biol 2015 Aug;17(8):1074-1087. Epub 2015 Jul 13 doi: 10.1038/ncb3201. PMID: 26167768 Free PMC Article

Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy.

Poyner SE, Bradshaw WT
Neonatal Netw 2013 Sep-Oct;32(5):342-52. doi: 10.1891/0730-0832.32.5.342. PMID: 23985472

See all (46)

Diagnosis

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, Bernardini L, Mancini C, Soli F, Cocciadiferro D, Guadagnolo D, Mastromoro G, Putotto C, Fontana F, Brunetti-Pierri N, Novelli A, Pizzuti A, Marino B, Digilio MC, Mazza T, Dallapiccola B, Ruiz-Perez VL, Tartaglia M, Castori M, De Luca A
Eur J Hum Genet 2023 Apr;31(4):479-484. Epub 2023 Jan 4 doi: 10.1038/s41431-022-01276-7. PMID: 36599940 Free PMC Article

Clinical phenocopies of albinism.

Dumitrescu AV, Pfeifer WL, Drack AV
J AAPOS 2021 Aug;25(4):220.e1-220.e8. Epub 2021 Jul 17 doi: 10.1016/j.jaapos.2021.03.015. PMID: 34280564

Thoracic Insufficiency Syndrome.

Mayer O, Campbell R, Cahill P, Redding G
Curr Probl Pediatr Adolesc Health Care 2016 Mar;46(3):72-97. Epub 2015 Dec 30 doi: 10.1016/j.cppeds.2015.11.001. PMID: 26747620

Chest wall hypoplasia--principles and treatment.

Mayer OH
Paediatr Respir Rev 2015 Jan;16(1):30-4. Epub 2014 Nov 5 doi: 10.1016/j.prrv.2014.10.012. PMID: 25434647

Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy.

Poyner SE, Bradshaw WT
Neonatal Netw 2013 Sep-Oct;32(5):342-52. doi: 10.1891/0730-0832.32.5.342. PMID: 23985472

See all (78)

Therapy

Management of Thoracic Insufficiency Syndrome in Patients With Jeune Syndrome Using the 70 mm Radius Vertical Expandable Prosthetic Titanium Rib.

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

Successful recovery from respiratory failure by external distraction sternoplasty in a patient with Jeune syndrome.

Park S, Kang CH, Park IK, Kim YT
J Thorac Cardiovasc Surg 2015 Mar;149(3):e53-5. Epub 2014 Nov 20 doi: 10.1016/j.jtcvs.2014.11.030. PMID: 25500290

Mortality and life-threatening events after vertical expandable prosthetic titanium rib surgery in children with hypoplastic chest wall deformity.

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

Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid.

Labrune P, Fabre M, Trioche P, Estournet-Mathiaud B, Grangeponte MC, Rambaud C, Maurage C, Bernard O
Am J Med Genet 1999 Dec 3;87(4):324-8. doi: 10.1002/(sici)1096-8628(19991203)87:4<324::aid-ajmg8>3.0.co;2-u. PMID: 10588838

Pseudotumor cerebri in children receiving recombinant human growth hormone.

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

See all (6)

Prognosis

Fetal magnetic resonance imaging of skeletal dysplasias.

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

Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy.

Poyner SE, Bradshaw WT
Neonatal Netw 2013 Sep-Oct;32(5):342-52. doi: 10.1891/0730-0832.32.5.342. PMID: 23985472

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.

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

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).

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

Chest wall deformities.

Golladay ES, Golladay GJ
Indian J Pediatr 1997 May-Jun;64(3):339-50. doi: 10.1007/BF02845203. PMID: 10771855

See all (31)

Clinical prediction guides

THE CASE OF JEUNE SYNDROME AMONG THE PRECARPATHIAN POPULATION.

Fomenko NM, Synoverska OB, Marchuk LI, Dziubynsky YS
Wiad Lek 2021;74(10 pt 1):2520-2524. PMID: 34897015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.

Schaballie H, Renard M, Vermylen C, Scheers I, Revencu N, Regal L, Cassiman D, Sevenants L, Hoffman I, Corveleyn A, Bordon V, Haerynck F, Allegaert K, De Boeck K, Roskams T, Boeckx N, Bossuyt X, Meyts I
Eur J Pediatr 2013 May;172(5):613-22. Epub 2013 Jan 12 doi: 10.1007/s00431-012-1908-0. PMID: 23315050

Ciliary disorder of the skeleton.

Huber C, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):165-74. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31336. PMID: 22791528

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).

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

See all (26)

MedGen

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Asphyxiating thoracic dystrophy 1(ATD1; SRTD1)

Definition

Additional description

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

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