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Increased arm span

MedGen UID:
868335
Concept ID:
C4022729
Finding
HPO: HP:0012771

Definition

Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased arm span

Conditions with this feature

Rienhoff syndrome
MedGen UID:
816342
Concept ID:
C3810012
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Intellectual developmental disorder 62
MedGen UID:
1712636
Concept ID:
C5394083
Disease or Syndrome
DLG4-related synaptopathy is a condition that affects neurological development. This condition is characterized by delayed development and mild to moderate intellectual disabilities that typically becomes evident before age 2. Over time, many individuals with DLG4-related synaptopathy lose skills that they have learned, such as speech or motor skills. About 20 percent of people with this condition cannot speak. Affected individuals often have neurodevelopmental disorders, such as autism spectrum disorder or attention-deficit/hyperactivity disorder. About half of individuals with this condition have recurrent seizures (epilepsy) that typically begin in childhood. Brain changes can also occur. These include brain tissue loss (atrophy) and abnormalities of the tissue connecting the left and right halves of the brain (corpus callosum) or the  hippocampus, which is a region of the brain that is involved in learning and memory.\n\nIndividuals with DLG4-related synaptopathy can also have weak muscle tone (hyptonia), loose joints (joint laxity), or a spine that curves to the side (scoliosis). Movement problems, including impaired muscle coordination (ataxia), involuntary muscle coordination (dystonia), or rhythmic shaking (tremor) are common in people with this condition. Other problems can include migraine, sleep problems, or anxiety. Some people with DLG4-related synaptopathy have a distinctive body type that includes a long face, slim body, and long fingers.\n\nLess commonly, DLG4-related synaptopathy can affect a person's vision. Affected individuals can have eyes that do not point in the same direction (strabismus), farsightedness (hyperopia), or involuntary movements of the eyes (nystagmus). Some affected individuals have blindness because the area of the brain responsible for processing vision is impaired. \n\nDLG4-related synaptopathy can also cause gastrointestinal difficulties that make it difficult to eat. These can include a backflow of stomach acids into the esophagus (gastroesophageal reflux disease or GERD).\n\n

Professional guidelines

PubMed

Al ADK, Şükür NM, Özturan EK, Öztürk AP, Poyrazoğlu Ş, Baş F, Darendeliler FF
Turk J Med Sci 2023 Apr;53(2):518-525. Epub 2023 Apr 19 doi: 10.55730/1300-0144.5612. PMID: 37476877Free PMC Article
Salas-Fraire O, Rivera-Pérez JA, Guevara-Neri NP, Urrutia-García K, Martínez-Gutiérrez OA, Salas-Longoria K, Morales-Avalos R
J Orthop Sci 2023 Jan;28(1):112-116. Epub 2021 Nov 2 doi: 10.1016/j.jos.2021.10.006. PMID: 34736843
Yimam M, Burnett BP, Brownell L, Jia Q
Behav Neurol 2016;2016:7240802. Epub 2016 Nov 30 doi: 10.1155/2016/7240802. PMID: 28042201Free PMC Article

Recent clinical studies

Etiology

Tan MP, Wynn NN, Umerov M, Henderson A, Gillham A, Junejo S, Bansal SK
Chest 2009 Feb;135(2):448-454. Epub 2008 Oct 10 doi: 10.1378/chest.08-1270. PMID: 18849402

Diagnosis

Chandra N, Kumar S, Raj V, Vishwakarma PK, Sinha S, Saha RP
Am J Case Rep 2016 Oct 14;17:745-748. doi: 10.12659/ajcr.898165. PMID: 27739421Free PMC Article
Tan MP, Wynn NN, Umerov M, Henderson A, Gillham A, Junejo S, Bansal SK
Chest 2009 Feb;135(2):448-454. Epub 2008 Oct 10 doi: 10.1378/chest.08-1270. PMID: 18849402
Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E
J Inherit Metab Dis 2007 Oct;30(5):811. Epub 2007 Sep 4 doi: 10.1007/s10545-007-0546-6. PMID: 17768669

Therapy

Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E
J Inherit Metab Dis 2007 Oct;30(5):811. Epub 2007 Sep 4 doi: 10.1007/s10545-007-0546-6. PMID: 17768669

Clinical prediction guides

Moreira MF, Morais JE, Marinho DA, Silva AJ, Barbosa TM, Costa MJ
Sports Biomech 2014 Mar;13(1):62-74. doi: 10.1080/14763141.2013.865139. PMID: 24968511
Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E
J Inherit Metab Dis 2007 Oct;30(5):811. Epub 2007 Sep 4 doi: 10.1007/s10545-007-0546-6. PMID: 17768669

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