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Hydrocephaly-tall stature-joint laxity syndrome

MedGen UID:
383828
•Concept ID:
C1856051
•
Disease or Syndrome
Synonyms: Daish Hardman Lamont syndrome; Hydrocephalus, tall stature, joint laxity and kyphoscoliosis
SNOMED CT: Hydrocephalus, tall stature, joint laxity syndrome (732926009); Daish Hardman Lamont syndrome (732926009); Hydrocephaly, tall stature, joint laxity syndrome (732926009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0009363
OMIM®: 236660
Orphanet: ORPHA2181

Definition

A multiple congenital anomalies syndrome described in two sisters and with the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. [from SNOMEDCT_US]

Clinical features

From HPO
Tall stature
MedGen UID:
69137
•Concept ID:
C0241240
•
Finding
A height above that which is expected according to age and gender norms.
See: Feature record | Search on this feature
Hydrocephalus
MedGen UID:
9335
•Concept ID:
C0020255
•
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
See: Feature record | Search on this feature
Kyphoscoliosis
MedGen UID:
154361
•Concept ID:
C0575158
•
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
See: Feature record | Search on this feature
Joint hypermobility
MedGen UID:
336793
•Concept ID:
C1844820
•
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
See: Feature record | Search on this feature
Thoracolumbar kyphosis
MedGen UID:
383679
•Concept ID:
C1855418
•
Anatomical Abnormality
Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHydrocephaly-tall stature-joint laxity syndrome
Follow this link to review classifications for Hydrocephaly-tall stature-joint laxity syndrome in Orphanet.

Professional guidelines

PubMed

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K
Eur J Hum Genet 2023 Nov;31(11):1251-1260. Epub 2023 Aug 30 doi: 10.1038/s41431-023-01445-2. PMID: 37644171Free PMC Article
Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care.
Atwell K, Michael W, Dubey J, James S, Martonffy A, Anderson S, Rudin N, Schrager S
J Am Board Fam Med 2021 Jul-Aug;34(4):838-848. doi: 10.3122/jabfm.2021.04.200374. PMID: 34312277
Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review.
Joseph AW, Joseph SS, Francomano CA, Kontis TC
JAMA Facial Plast Surg 2018 Jan 1;20(1):70-75. doi: 10.1001/jamafacial.2017.0793. PMID: 29121166

Recent clinical studies

Etiology

Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care.
Atwell K, Michael W, Dubey J, James S, Martonffy A, Anderson S, Rudin N, Schrager S
J Am Board Fam Med 2021 Jul-Aug;34(4):838-848. doi: 10.3122/jabfm.2021.04.200374. PMID: 34312277
Hypermobility in Hallux Valgus.
Mansur NSB, de Souza Nery CA
Foot Ankle Clin 2020 Mar;25(1):1-17. Epub 2019 Nov 26 doi: 10.1016/j.fcl.2019.10.004. PMID: 31997738
Foot and Ankle Injuries in Soccer.
Feria-Arias E, Boukhemis K, Kreulen C, Giza E
Am J Orthop (Belle Mead NJ) 2018 Oct;47(10) doi: 10.12788/ajo.2018.0096. PMID: 30481231
Neurological and spinal manifestations of the Ehlers-Danlos syndromes.
Henderson FC Sr, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):195-211. Epub 2017 Feb 21 doi: 10.1002/ajmg.c.31549. PMID: 28220607
Chronic ankle instability: biomechanics and pathomechanics of ligaments injury and associated lesions.
Bonnel F, Toullec E, Mabit C, Tourné Y; Sofcot
Orthop Traumatol Surg Res 2010 Jun;96(4):424-32. Epub 2010 May 20 doi: 10.1016/j.otsr.2010.04.003. PMID: 20493797

Diagnosis

Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know.
Thwaites PA, Gibson PR, Burgell RE
J Gastroenterol Hepatol 2022 Sep;37(9):1693-1709. Epub 2022 Jul 20 doi: 10.1111/jgh.15927. PMID: 35750466Free PMC Article
Loeys-Dietz Syndrome.
Velchev JD, Van Laer L, Luyckx I, Dietz H, Loeys B
Adv Exp Med Biol 2021;1348:251-264. doi: 10.1007/978-3-030-80614-9_11. PMID: 34807423
Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care.
Atwell K, Michael W, Dubey J, James S, Martonffy A, Anderson S, Rudin N, Schrager S
J Am Board Fam Med 2021 Jul-Aug;34(4):838-848. doi: 10.3122/jabfm.2021.04.200374. PMID: 34312277
Neurological and spinal manifestations of the Ehlers-Danlos syndromes.
Henderson FC Sr, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):195-211. Epub 2017 Feb 21 doi: 10.1002/ajmg.c.31549. PMID: 28220607
Impact of joint laxity and hypermobility on the musculoskeletal system.
Wolf JM, Cameron KL, Owens BD
J Am Acad Orthop Surg 2011 Aug;19(8):463-71. doi: 10.5435/00124635-201108000-00002. PMID: 21807914

Therapy

Post-enucleation socket syndrome-a novel pathophysiological definition.
Rokohl AC, Kopecky A, Trester M, Wawer Matos PA, Pine KR, Heindl LM
Graefes Arch Clin Exp Ophthalmol 2022 Aug;260(8):2427-2431. Epub 2022 Apr 2 doi: 10.1007/s00417-022-05648-z. PMID: 35366081Free PMC Article
Functional somatic syndromes and joint hypermobility: A systematic review and meta-analysis.
Chen G, Olver JS, Kanaan RA
J Psychosom Res 2021 Sep;148:110556. Epub 2021 Jun 24 doi: 10.1016/j.jpsychores.2021.110556. PMID: 34237584
Vaginal Rejuvenation: A Retrospective Review of Lasers and Radiofrequency Devices.
Juhász MLW, Korta DZ, Mesinkovska NA
Dermatol Surg 2021 Apr 1;47(4):489-494. doi: 10.1097/DSS.0000000000002845. PMID: 33165070
Myofascial Pain.
Weller JL, Comeau D, Otis JAD
Semin Neurol 2018 Dec;38(6):640-643. Epub 2018 Dec 6 doi: 10.1055/s-0038-1673674. PMID: 30522139
Morquio A syndrome: diagnosis and current and future therapies.
Tomatsu S, Yasuda E, Patel P, Ruhnke K, Shimada T, Mackenzie WG, Mason R, Thacker MM, Theroux M, Montaño AM, Alméciga-Díaz CJ, Barrera LA, Chinen Y, Sly WS, Rowan D, Suzuki Y, Orii T
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1(0 1):141-51. PMID: 25345096Free PMC Article

Prognosis

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K
Eur J Hum Genet 2023 Nov;31(11):1251-1260. Epub 2023 Aug 30 doi: 10.1038/s41431-023-01445-2. PMID: 37644171Free PMC Article
Eyelid laxity and sleep apnea syndrome: a review.
Cristescu Teodor R, Mihaltan FD
Rom J Ophthalmol 2019 Jan-Mar;63(1):2-9. PMID: 31198891Free PMC Article
Foot and Ankle Injuries in Soccer.
Feria-Arias E, Boukhemis K, Kreulen C, Giza E
Am J Orthop (Belle Mead NJ) 2018 Oct;47(10) doi: 10.12788/ajo.2018.0096. PMID: 30481231
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Peracha H, Sawamoto K, Averill L, Kecskemethy H, Theroux M, Thacker M, Nagao K, Pizarro C, Mackenzie W, Kobayashi H, Yamaguchi S, Suzuki Y, Orii K, Orii T, Fukao T, Tomatsu S
Mol Genet Metab 2018 Sep;125(1-2):18-37. Epub 2018 May 15 doi: 10.1016/j.ymgme.2018.05.004. PMID: 29779902Free PMC Article
Blepharochalasis.
Bergin DJ, McCord CD, Berger T, Friedberg H, Waterhouse W
Br J Ophthalmol 1988 Nov;72(11):863-7. doi: 10.1136/bjo.72.11.863. PMID: 3207663Free PMC Article

Clinical prediction guides

Overactive bladder (OAB): a failed concept needing revision to accommodate an external anatomical control system.
Petros P, Quaghebeur J, Wyndaele JJ
World J Urol 2022 Jul;40(7):1605-1613. Epub 2022 Feb 22 doi: 10.1007/s00345-022-03938-z. PMID: 35191991
Assessment of systemic joint laxity in the clinical context: Relevance and replicability of the Beighton score in chronic fatigue.
Bernhoff G, Huhmar H, Käll LB
J Back Musculoskelet Rehabil 2022;35(4):859-866. doi: 10.3233/BMR-210081. PMID: 34957987Free PMC Article
Is there a relationship between joint hypermobility and gastrointestinal disorders in children?
Quitadamo P, Thapar N, Nardo GD, Pescarin M, Bertelli L, Tortora C, Borrelli O, Giorgio R, Staiano A
Turk J Pediatr 2021;63(2):307-313. doi: 10.24953/turkjped.2021.02.015. PMID: 33929121
Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.
Sundelin HE, Stephansson O, Johansson K, Ludvigsson JF
Acta Obstet Gynecol Scand 2017 Jan;96(1):114-119. Epub 2016 Nov 22 doi: 10.1111/aogs.13043. PMID: 27743500
Symptoms accompanying fibromyalgia.
Zoppi M, Maresca M
Reumatismo 2008 Jul-Sep;60(3):217-20. doi: 10.4081/reumatismo.2008.217. PMID: 18854884

Recent systematic reviews

Association between obstructive sleep apnea and floppy eyelid syndrome: A systematic review and metaanalysis.
Cheong AJY, Ho OTW, Wang SKX, Woon CY, Yap K, Ng KJY, Xu FWX, See A, Ng ACW, Loh SRH, Chee SP, Toh ST
Surv Ophthalmol 2023 Mar-Apr;68(2):257-264. Epub 2022 Nov 23 doi: 10.1016/j.survophthal.2022.11.006. PMID: 36427560
Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know.
Thwaites PA, Gibson PR, Burgell RE
J Gastroenterol Hepatol 2022 Sep;37(9):1693-1709. Epub 2022 Jul 20 doi: 10.1111/jgh.15927. PMID: 35750466Free PMC Article
Functional somatic syndromes and joint hypermobility: A systematic review and meta-analysis.
Chen G, Olver JS, Kanaan RA
J Psychosom Res 2021 Sep;148:110556. Epub 2021 Jun 24 doi: 10.1016/j.jpsychores.2021.110556. PMID: 34237584
Overuse syndrome of the hand and wrist in musicians: a systematic review.
Betzl J, Kraneburg U, Megerle K
J Hand Surg Eur Vol 2020 Jul;45(6):636-642. Epub 2020 May 21 doi: 10.1177/1753193420912644. PMID: 32437221
The effectiveness of therapeutic exercise for joint hypermobility syndrome: a systematic review.
Palmer S, Bailey S, Barker L, Barney L, Elliott A
Physiotherapy 2014 Sep;100(3):220-7. Epub 2013 Oct 5 doi: 10.1016/j.physio.2013.09.002. PMID: 24238699

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