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Shield chest

MedGen UID:
322348
Concept ID:
C1834124
Finding
Synonym: Broad chest
 
HPO: HP:0000914

Definition

A broad chest. [from HPO]

Term Hierarchy

Conditions with this feature

Fucosidosis
MedGen UID:
5288
Concept ID:
C0016788
Disease or Syndrome
Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).
Dyggve-Melchior-Clausen syndrome
MedGen UID:
120527
Concept ID:
C0265286
Disease or Syndrome
Dyggve-Melchior-Clausen disease (DMC) is an autosomal recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia and impaired intellectual development. Short-trunk dwarfism and microcephaly are present, and specific radiologic appearances most likely reflect abnormalities of the growth plates, including platyspondyly with notched end plates, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small iliac wings with lacy iliac crests (summary by El Ghouzzi et al., 2003).
Cardio-facio-cutaneous syndrome
MedGen UID:
266149
Concept ID:
C1275081
Disease or Syndrome
Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia, has been reported in some individuals.
Spondyloepiphyseal dysplasia with congenital joint dislocations
MedGen UID:
373381
Concept ID:
C1837657
Disease or Syndrome
CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.
Noonan syndrome 2
MedGen UID:
344290
Concept ID:
C1854469
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
Noonan syndrome 3
MedGen UID:
349931
Concept ID:
C1860991
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
X-linked intellectual disability-craniofacioskeletal syndrome
MedGen UID:
394716
Concept ID:
C2678036
Disease or Syndrome
X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.
Noonan syndrome 7
MedGen UID:
462320
Concept ID:
C3150970
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
LEOPARD syndrome 3
MedGen UID:
462321
Concept ID:
C3150971
Disease or Syndrome
Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.
Spondyloepimetaphyseal dysplasia, Maroteaux type
MedGen UID:
463613
Concept ID:
C3159322
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Spondyloepiphyseal dysplasia tarda, X-linked
MedGen UID:
762085
Concept ID:
C3541456
Congenital Abnormality
X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of long bones (epiphyses) in the arms and legs. "Tarda" indicates that signs and symptoms of this condition are not present at birth, but appear later in childhood, typically between ages 6 and 10.\n\nMales with X-linked spondyloepiphyseal dysplasia tarda have skeletal abnormalities and short stature. Affected boys grow steadily until late childhood, when their growth slows. Their adult height ranges from 4 feet 6 inches (137 cm) to 5 feet 4 inches (163 cm). Impaired growth of the spinal bones (vertebrae) primarily causes the short stature. Spinal abnormalities include flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive thinning of the discs between vertebrae, and an abnormal curvature of the spine (scoliosis or kyphosis). These spinal problems also cause back pain in people with this condition. Individuals with X-linked spondyloepiphyseal dysplasia tarda have a short torso and neck, and their arms are disproportionately long compared to their height.\n\nOther skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); multiple abnormalities of the epiphyses, including a short upper end of the thigh bone (femoral neck); and a broad, barrel-shaped chest. A painful joint condition called osteoarthritis that typically occurs in older adults often develops in early adulthood in people with X-linked spondyloepiphyseal dysplasia tarda and worsens over time, most often affecting the hips, knees, and shoulders.
Spondylo-ocular syndrome
MedGen UID:
900371
Concept ID:
C4225412
Disease or Syndrome
Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.
Anauxetic dysplasia 2
MedGen UID:
1384439
Concept ID:
C4479357
Disease or Syndrome
Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017). For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095).
Noonan syndrome 1
MedGen UID:
1638960
Concept ID:
C4551602
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
MedGen UID:
1803802
Concept ID:
C5676895
Disease or Syndrome
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-2 (CFSMR2) is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech (Alanay et al., 2014). For a general phenotypic description and discussion of genetic heterogeneity of CFSMR, see CFSMR1 (213980).

Professional guidelines

PubMed

Tignanelli CJ, Rix A, Napolitano LM, Hemmila MR, Ma S, Kummerfeld E
JAMA Netw Open 2020 Mar 2;3(3):e201316. doi: 10.1001/jamanetworkopen.2020.1316. PMID: 32215632Free PMC Article
Harris EE
Cancer Control 2008 Apr;15(2):120-9. doi: 10.1177/107327480801500204. PMID: 18376379
Samson DJ, Seidenfeld J, Simon GR, Turrisi AT 3rd, Bonnell C, Ziegler KM, Aronson N; American College of Chest Physicians
Chest 2007 Sep;132(3 Suppl):314S-323S. doi: 10.1378/chest.07-1384. PMID: 17873177

Recent clinical studies

Etiology

Carvalho AB, Lemos-Marini SHV, Guerra-Junior G, Maciel-Guerra AT
J Pediatr Endocrinol Metab 2018 Jan 26;31(2):167-173. doi: 10.1515/jpem-2017-0273. PMID: 29303780
Bondy CA
Curr Opin Cardiol 2008 Nov;23(6):519-26. doi: 10.1097/hco.0b013e3283129b89. PMID: 18839441Free PMC Article
Tsezou A, Hadjiathanasiou C, Gourgiotis D, Galla A, Kavazarakis E, Pasparaki A, Kapsetaki M, Sismani C, Theodoridis C, Patsalis PC, Moschonas N, Kitsiou S
Clin Genet 1999 Dec;56(6):441-6. doi: 10.1034/j.1399-0004.1999.560606.x. PMID: 10665663
Park E
Am J Phys Anthropol 1977 May;46(3):455-61. doi: 10.1002/ajpa.1330460311. PMID: 193403

Diagnosis

Mondal E, Chanda PK, Musabber NA, Haque MA, Robel AB, Deb PK, Biswas H, Moshwan MM, Azad U, Kamrul-Hasan AB
Mymensingh Med J 2022 Jan;31(1):263-266. PMID: 34999713
Jajor J, Kostiukow A, Samborski W, Rostkowska E, Śliwa A, Antosiak-Cyrak K
Int J Environ Res Public Health 2019 Oct 12;16(20) doi: 10.3390/ijerph16203870. PMID: 31614840Free PMC Article
Wu HH, Li H
Ann Endocrinol (Paris) 2019 Feb;80(1):10-15. Epub 2018 Mar 24 doi: 10.1016/j.ando.2017.10.011. PMID: 29580553
Carvalho AB, Lemos-Marini SHV, Guerra-Junior G, Maciel-Guerra AT
J Pediatr Endocrinol Metab 2018 Jan 26;31(2):167-173. doi: 10.1515/jpem-2017-0273. PMID: 29303780
Higurashi M, Iijima K, Ikeda Y, Egi S, Ohzeki T
Birth Defects Orig Artic Ser 1982;18(4):155-67. PMID: 7159716

Therapy

Wu HH, Li H
Ann Endocrinol (Paris) 2019 Feb;80(1):10-15. Epub 2018 Mar 24 doi: 10.1016/j.ando.2017.10.011. PMID: 29580553
Gawlik A, Malecka-Tendera E
Nat Clin Pract Endocrinol Metab 2008 Mar;4(3):173-7. Epub 2008 Jan 29 doi: 10.1038/ncpendmet0747. PMID: 18227816
Tsezou A, Hadjiathanasiou C, Gourgiotis D, Galla A, Kavazarakis E, Pasparaki A, Kapsetaki M, Sismani C, Theodoridis C, Patsalis PC, Moschonas N, Kitsiou S
Clin Genet 1999 Dec;56(6):441-6. doi: 10.1034/j.1399-0004.1999.560606.x. PMID: 10665663
Park E
Am J Phys Anthropol 1977 May;46(3):455-61. doi: 10.1002/ajpa.1330460311. PMID: 193403

Prognosis

Bondy CA
Curr Opin Cardiol 2008 Nov;23(6):519-26. doi: 10.1097/hco.0b013e3283129b89. PMID: 18839441Free PMC Article

Clinical prediction guides

Mondal E, Chanda PK, Musabber NA, Haque MA, Robel AB, Deb PK, Biswas H, Moshwan MM, Azad U, Kamrul-Hasan AB
Mymensingh Med J 2022 Jan;31(1):263-266. PMID: 34999713
Carvalho AB, Lemos-Marini SHV, Guerra-Junior G, Maciel-Guerra AT
J Pediatr Endocrinol Metab 2018 Jan 26;31(2):167-173. doi: 10.1515/jpem-2017-0273. PMID: 29303780

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