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Thoracic kyphoscoliosis

MedGen UID:
863902
Concept ID:
C4015465
Finding
HPO: HP:0005659

Term Hierarchy

Conditions with this feature

Alopecia - contractures - dwarfism - intellectual disability syndrome
MedGen UID:
167081
Concept ID:
C0795895
Disease or Syndrome
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.
Spondylo-megaepiphyseal-metaphyseal dysplasia
MedGen UID:
412869
Concept ID:
C2750066
Disease or Syndrome
Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet (summary by Hellemans et al., 2009).
Syndromic multisystem autoimmune disease due to ITCH deficiency
MedGen UID:
461999
Concept ID:
C3150649
Disease or Syndrome
Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.
Progeroid features-hepatocellular carcinoma predisposition syndrome
MedGen UID:
863898
Concept ID:
C4015461
Disease or Syndrome
Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village. Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.
Lethal congenital contracture syndrome 9
MedGen UID:
903881
Concept ID:
C4225303
Disease or Syndrome
Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.
Turnpenny-fry syndrome
MedGen UID:
1683283
Concept ID:
C5193060
Disease or Syndrome
Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations (Turnpenny et al., 2018).

Professional guidelines

PubMed

Aurégan JC, Odent T, Coyle RM, Miladi L, Wicart P, Dubousset J, Le Merrer M, Padovani JP, Glorion C
Spine (Phila Pa 1976) 2014 Apr 20;39(9):E564-75. doi: 10.1097/BRS.0000000000000260. PMID: 24503682

Recent clinical studies

Etiology

Johnston JL, Featherstone G, Harms SL, Thomson GTD
Can J Neurol Sci 2021 May;48(3):383-391. Epub 2020 Aug 28 doi: 10.1017/cjn.2020.186. PMID: 32854787
Hua W, Zhang Y, Wu X, Gao Y, Li S, Wang K, Yang S, Yang C
Spine Deform 2019 Mar;7(2):338-345. doi: 10.1016/j.jspd.2018.08.001. PMID: 30660231
Hengwei F, Xueshi L, Zifang H, Wenyuan S, Chuandong L, Jingfan Y, Junlin Y
World Neurosurg 2018 Aug;116:e1-e8. Epub 2017 Oct 12 doi: 10.1016/j.wneu.2017.10.002. PMID: 29033379
Li X, Zeng L, Li X, Chen X, Ke C
Med Sci Monit 2017 Aug 19;23:4021-4027. doi: 10.12659/msm.905358. PMID: 28822231Free PMC Article
Sui WY, Huang ZF, Deng YL, Fan HW, Yang JF, Li FB, Yang JL
World Neurosurg 2017 Aug;104:723-728. Epub 2017 May 19 doi: 10.1016/j.wneu.2017.05.063. PMID: 28532908

Diagnosis

Koprulu M, Shabbir RMK, Mumtaz S, Tolun A, Malik S
Yale J Biol Med 2023 Sep;96(3):367-382. Epub 2023 Sep 29 doi: 10.59249/RLAU6003. PMID: 37780995Free PMC Article
Sui WY, Huang ZF, Deng YL, Fan HW, Yang JF, Li FB, Yang JL
World Neurosurg 2017 Aug;104:723-728. Epub 2017 May 19 doi: 10.1016/j.wneu.2017.05.063. PMID: 28532908
Martín-Fuentes AM, Pretell-Mazzini J, Curto de la Mano A, Viña-Fernández R
J Pediatr Orthop B 2013 Mar;22(2):110-6. doi: 10.1097/BPB.0b013e328357eac2. PMID: 22863687
Tsirikos AI, Demosthenous N, McMaster MJ
J Spinal Disord Tech 2009 Apr;22(2):149-53. doi: 10.1097/BSD.0b013e318167b0a6. PMID: 19342938
Khoshhal K, Letts RM
Clin Orthop Relat Res 2002 Aug;(401):65-74. doi: 10.1097/00003086-200208000-00010. PMID: 12151884

Therapy

Menger R, Lin J, Cerpa M, Lenke LG
Spine Deform 2020 Oct;8(5):1139-1142. Epub 2020 Apr 20 doi: 10.1007/s43390-020-00116-2. PMID: 32314179
Takata Y, Lenke LG, Kelly MP
Spine Deform 2020 Feb;8(1):135-138. Epub 2020 Jan 16 doi: 10.1007/s43390-020-00030-7. PMID: 31950479
Ong EKS, Wong TS, Chung WH, Chiu CK, Saw A, Hasan MS, Chan CYW, Kwan MK
J Orthop Surg (Hong Kong) 2019 Sep-Dec;27(3):2309499019879213. doi: 10.1177/2309499019879213. PMID: 31615339
Martín-Fuentes AM, Pretell-Mazzini J, Curto de la Mano A, Viña-Fernández R
J Pediatr Orthop B 2013 Mar;22(2):110-6. doi: 10.1097/BPB.0b013e328357eac2. PMID: 22863687
Thaler M, Gabl M, Lechner R, Gstöttner M, Bach CM
Eur Spine J 2010 Sep;19(9):1415-22. Epub 2010 Jun 1 doi: 10.1007/s00586-010-1398-6. PMID: 20514501Free PMC Article

Prognosis

Hua W, Zhang Y, Wu X, Gao Y, Li S, Wang K, Yang S, Yang C
Spine Deform 2019 Mar;7(2):338-345. doi: 10.1016/j.jspd.2018.08.001. PMID: 30660231
Li X, Zeng L, Li X, Chen X, Ke C
Med Sci Monit 2017 Aug 19;23:4021-4027. doi: 10.12659/msm.905358. PMID: 28822231Free PMC Article
Sui WY, Huang ZF, Deng YL, Fan HW, Yang JF, Li FB, Yang JL
World Neurosurg 2017 Aug;104:723-728. Epub 2017 May 19 doi: 10.1016/j.wneu.2017.05.063. PMID: 28532908
Khoshhal K, Letts RM
Clin Orthop Relat Res 2002 Aug;(401):65-74. doi: 10.1097/00003086-200208000-00010. PMID: 12151884
Grassi V, Tantucci C
Monaldi Arch Chest Dis 1993;48(2):183-7. PMID: 8518783

Clinical prediction guides

Hua W, Zhang Y, Wu X, Gao Y, Li S, Wang K, Yang S, Yang C
Spine Deform 2019 Mar;7(2):338-345. doi: 10.1016/j.jspd.2018.08.001. PMID: 30660231
Li X, Zeng L, Li X, Chen X, Ke C
Med Sci Monit 2017 Aug 19;23:4021-4027. doi: 10.12659/msm.905358. PMID: 28822231Free PMC Article
Fan H, Li X, Huang Z, Sui W, Yang J, Deng Y, Wang C, Lang C, Yang J
Spine (Phila Pa 1976) 2017 Dec 1;42(23):E1371-E1379. doi: 10.1097/BRS.0000000000002210. PMID: 28441314
Martín-Fuentes AM, Pretell-Mazzini J, Curto de la Mano A, Viña-Fernández R
J Pediatr Orthop B 2013 Mar;22(2):110-6. doi: 10.1097/BPB.0b013e328357eac2. PMID: 22863687
Grassi V, Tantucci C
Monaldi Arch Chest Dis 1993;48(2):183-7. PMID: 8518783

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