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Increased upper to lower segment ratio

MedGen UID:
375459
Concept ID:
C1844571
Finding
HPO: HP:0012774

Definition

Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased upper to lower segment ratio

Conditions with this feature

Aarskog syndrome
MedGen UID:
61234
Concept ID:
C0175701
Disease or Syndrome
Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body, most commonly the head and face, the hands and feet, and the genitals and urinary system (genitourinary tract). This condition mainly affects males, although females may have mild features of the syndrome.\n\nPeople with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. Affected individuals can also have wide, flat feet with broad, rounded toes. Other abnormalities in people with Aarskog-Scott syndrome include heart defects and a split in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).\n\nMost males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis instead of hanging below. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).\n\nThe intellectual development of people with Aarskog-Scott syndrome varies widely. Most individuals with Aarskog-Scott syndrome have normal intelligence; however, some may have mild learning and behavior problems, and in rare cases, severe intellectual disability has been reported.
Congenital contractural arachnodactyly
MedGen UID:
67391
Concept ID:
C0220668
Congenital Abnormality
Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers; kyphoscoliosis (usually progressive); a marfanoid habitus (a long and slender build, dolichostenomelia, pectus deformity, muscular hypoplasia, highly arched palate); and abnormal "crumpled" ears. At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies. Phenotypic expression can vary within and between families.
Brachyolmia type 1, Hobaek type
MedGen UID:
338605
Concept ID:
C1849055
Disease or Syndrome
Rock et al. (2008) provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (BCYM1B; 271630) forms, which are inherited in an autosomal recessive fashion. Both forms of type 1 are characterized by scoliosis, platyspondyly with rectangular and elongated vertebral bodies, overfaced pedicles, and irregular, narrow intervertebral spaces. The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Type 2 brachyolmia (BCYM2; 613678), sometimes referred to as the Maroteaux type, is also an autosomal recessive disorder, primarily distinguished from type 1 by rounded vertebral bodies and less overfaced pedicles. Some cases are associated with precocious calcification of the falx cerebri. Type 3 brachyolmia (BCYM3; 113500) is an autosomal dominant form, caused by mutation in the TRPV4 gene (605427), with severe kyphoscoliosis and flattened, irregular cervical vertebrae. Paradoxically, although the limbs are mildly shortened in all types of brachyolmia, they show minimal epiphyseal and metaphyseal abnormalities on radiographs. Type 4 brachyolmia (BCYM4; 612847) is an autosomal recessive form, caused by mutation in the PAPSS2 gene (603005), with mild epiphyseal and metaphyseal changes.

Professional guidelines

PubMed

Wo K, Morrison BJ, Harada RN
Ann Vasc Surg 2017 Jan;38:99-104. Epub 2016 Aug 10 doi: 10.1016/j.avsg.2016.04.013. PMID: 27521824
Sippell WG
Horm Res 1994;41 Suppl 2:14-5. doi: 10.1159/000183952. PMID: 8088698

Recent clinical studies

Etiology

Coles CE, Haviland JS, Kirby AM, Griffin CL, Sydenham MA, Titley JC, Bhattacharya I, Brunt AM, Chan HYC, Donovan EM, Eaton DJ, Emson M, Hopwood P, Jefford ML, Lightowlers SV, Sawyer EJ, Syndikus I, Tsang YM, Twyman NI, Yarnold JR, Bliss JM; IMPORT Trial Management Group
Lancet 2023 Jun 24;401(10394):2124-2137. Epub 2023 Jun 8 doi: 10.1016/S0140-6736(23)00619-0. PMID: 37302395
Shashi KK, Lee T, Kurugol S, Garg H, Ghelani SJ, Nelson CP, Chow JS
Pediatr Radiol 2022 Jul;52(8):1492-1499. Epub 2022 Apr 7 doi: 10.1007/s00247-022-05349-z. PMID: 35386015
Coles CE, Griffin CL, Kirby AM, Titley J, Agrawal RK, Alhasso A, Bhattacharya IS, Brunt AM, Ciurlionis L, Chan C, Donovan EM, Emson MA, Harnett AN, Haviland JS, Hopwood P, Jefford ML, Kaggwa R, Sawyer EJ, Syndikus I, Tsang YM, Wheatley DA, Wilcox M, Yarnold JR, Bliss JM; IMPORT Trialists
Lancet 2017 Sep 9;390(10099):1048-1060. Epub 2017 Aug 2 doi: 10.1016/S0140-6736(17)31145-5. PMID: 28779963Free PMC Article
Dror Y, Stern F, Gomori MJ
Curr Aging Sci 2014;7(3):187-213. doi: 10.2174/1874609808666150201214955. PMID: 25643069
Kim SJ, Agashe MV, Song SH, Choi HJ, Lee H, Song HR
J Bone Joint Surg Br 2012 Jan;94(1):128-33. doi: 10.1302/0301-620X.94B1.27567. PMID: 22219260

Diagnosis

Dieckmeyer M, Löffler MT, El Husseini M, Sekuboyina A, Menze B, Sollmann N, Wostrack M, Zimmer C, Baum T, Kirschke JS
Front Endocrinol (Lausanne) 2022;13:882163. Epub 2022 May 20 doi: 10.3389/fendo.2022.882163. PMID: 35669688Free PMC Article
Dietl A, Zimmermann ME, Brandl C, Wallner S, Burkhardt R, Maier LS, Luchner A, Heid IM, Stark KJ
BMJ Open 2021 Nov 2;11(11):e052004. doi: 10.1136/bmjopen-2021-052004. PMID: 34728452Free PMC Article
Yamada K, Satoh S, Hashizume H, Yoshimura N, Kagotani R, Ishimoto Y, Abe Y, Toyoda H, Terai H, Masuda T, Muraki S, Nakamura H, Yoshida M
J Bone Miner Metab 2019 Jan;37(1):118-124. Epub 2018 Jan 11 doi: 10.1007/s00774-017-0901-0. PMID: 29327302
Dror Y, Stern F, Gomori MJ
Curr Aging Sci 2014;7(3):187-213. doi: 10.2174/1874609808666150201214955. PMID: 25643069
Abe T, Loenneke JP, Thiebaud RS, Fukunaga T
Age (Dordr) 2014 Apr;36(2):813-21. Epub 2013 Nov 17 doi: 10.1007/s11357-013-9600-5. PMID: 24243442Free PMC Article

Therapy

Coles CE, Haviland JS, Kirby AM, Griffin CL, Sydenham MA, Titley JC, Bhattacharya I, Brunt AM, Chan HYC, Donovan EM, Eaton DJ, Emson M, Hopwood P, Jefford ML, Lightowlers SV, Sawyer EJ, Syndikus I, Tsang YM, Twyman NI, Yarnold JR, Bliss JM; IMPORT Trial Management Group
Lancet 2023 Jun 24;401(10394):2124-2137. Epub 2023 Jun 8 doi: 10.1016/S0140-6736(23)00619-0. PMID: 37302395
Moutray T, Evans JR, Lois N, Armstrong DJ, Peto T, Azuara-Blanco A
Cochrane Database Syst Rev 2018 Mar 15;3(3):CD012314. doi: 10.1002/14651858.CD012314.pub2. PMID: 29543992Free PMC Article
Coles CE, Griffin CL, Kirby AM, Titley J, Agrawal RK, Alhasso A, Bhattacharya IS, Brunt AM, Ciurlionis L, Chan C, Donovan EM, Emson MA, Harnett AN, Haviland JS, Hopwood P, Jefford ML, Kaggwa R, Sawyer EJ, Syndikus I, Tsang YM, Wheatley DA, Wilcox M, Yarnold JR, Bliss JM; IMPORT Trialists
Lancet 2017 Sep 9;390(10099):1048-1060. Epub 2017 Aug 2 doi: 10.1016/S0140-6736(17)31145-5. PMID: 28779963Free PMC Article
Dror Y, Stern F, Gomori MJ
Curr Aging Sci 2014;7(3):187-213. doi: 10.2174/1874609808666150201214955. PMID: 25643069
Kim SJ, Agashe MV, Song SH, Choi HJ, Lee H, Song HR
J Bone Joint Surg Br 2012 Jan;94(1):128-33. doi: 10.1302/0301-620X.94B1.27567. PMID: 22219260

Prognosis

Kiss L, Szoverfi Z, Bereczki F, Eltes PE, Szollosi B, Szita J, Hoffer Z, Lazary A
Clin Spine Surg 2023 Aug 1;36(7):E306-E310. Epub 2022 Aug 10 doi: 10.1097/BSD.0000000000001369. PMID: 35945667Free PMC Article
Dieckmeyer M, Löffler MT, El Husseini M, Sekuboyina A, Menze B, Sollmann N, Wostrack M, Zimmer C, Baum T, Kirschke JS
Front Endocrinol (Lausanne) 2022;13:882163. Epub 2022 May 20 doi: 10.3389/fendo.2022.882163. PMID: 35669688Free PMC Article
Deng XM, Zhu TY, Wang GJ, Gao BL, Wang JT, Li RX, Zhang YF, Ding HX
World J Surg Oncol 2021 Oct 11;19(1):296. doi: 10.1186/s12957-021-02405-0. PMID: 34635107Free PMC Article
Kozlik P, Zuk J, Bartyzel S, Zarychta J, Okon K, Zareba L, Bazan JG, Kosalka J, Soja J, Musial J, Bazan-Socha S
Clin Exp Allergy 2020 Jan;50(1):15-28. Epub 2019 Oct 6 doi: 10.1111/cea.13501. PMID: 31532863
Abe T, Loenneke JP, Thiebaud RS, Fukunaga T
Age (Dordr) 2014 Apr;36(2):813-21. Epub 2013 Nov 17 doi: 10.1007/s11357-013-9600-5. PMID: 24243442Free PMC Article

Clinical prediction guides

Reimelt AM, Vasilescu DM, Beare R, Labode J, Knudsen L, Grothausmann R
Am J Physiol Lung Cell Mol Physiol 2023 Mar 1;324(3):L358-L372. Epub 2023 Jan 31 doi: 10.1152/ajplung.00069.2022. PMID: 36719077
Kiss L, Szoverfi Z, Bereczki F, Eltes PE, Szollosi B, Szita J, Hoffer Z, Lazary A
Clin Spine Surg 2023 Aug 1;36(7):E306-E310. Epub 2022 Aug 10 doi: 10.1097/BSD.0000000000001369. PMID: 35945667Free PMC Article
Savarirayan R, Baratela W, Butt T, Cormier-Daire V, Irving M, Miller BS, Mohnike K, Ozono K, Rosenfeld R, Selicorni A, Thompson D, White KK, Wright M, Fredwall SO
Orphanet J Rare Dis 2022 Jun 13;17(1):224. doi: 10.1186/s13023-022-02372-z. PMID: 35698202Free PMC Article
Kozlik P, Zuk J, Bartyzel S, Zarychta J, Okon K, Zareba L, Bazan JG, Kosalka J, Soja J, Musial J, Bazan-Socha S
Clin Exp Allergy 2020 Jan;50(1):15-28. Epub 2019 Oct 6 doi: 10.1111/cea.13501. PMID: 31532863
Yamada K, Satoh S, Hashizume H, Yoshimura N, Kagotani R, Ishimoto Y, Abe Y, Toyoda H, Terai H, Masuda T, Muraki S, Nakamura H, Yoshida M
J Bone Miner Metab 2019 Jan;37(1):118-124. Epub 2018 Jan 11 doi: 10.1007/s00774-017-0901-0. PMID: 29327302

Recent systematic reviews

Moutray T, Evans JR, Lois N, Armstrong DJ, Peto T, Azuara-Blanco A
Cochrane Database Syst Rev 2018 Mar 15;3(3):CD012314. doi: 10.1002/14651858.CD012314.pub2. PMID: 29543992Free PMC Article

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