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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).
 
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.
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.
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.
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.
Thoracolumbar kyphosis
MedGen UID:
383679
Concept ID:
C1855418
Anatomical Abnormality
Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.

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

Mao G, Kopparapu S, Jin Y, Davidar AD, Hersh AM, Weber-Levine C, Theodore N
Spine J 2022 Dec;22(12):1944-1952. Epub 2022 Aug 24 doi: 10.1016/j.spinee.2022.08.008. PMID: 36028216
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
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

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
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
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
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
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

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
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
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
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
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

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
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
Juhász MLW, Korta DZ, Mesinkovska NA
Dermatol Surg 2021 Apr 1;47(4):489-494. doi: 10.1097/DSS.0000000000002845. PMID: 33165070
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
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

Cristescu Teodor R, Mihaltan FD
Rom J Ophthalmol 2019 Jan-Mar;63(1):2-9. PMID: 31198891Free PMC Article
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
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
Spoon JM
Neonatal Netw 2003 May-Jun;22(3):71-5. doi: 10.1891/0730-0832.22.3.71. PMID: 12795510
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

Baldo F, Morra L, Feresin A, Faletra F, Al Naber Y, Memo L, Travan L
Ital J Pediatr 2022 Jun 6;48(1):85. doi: 10.1186/s13052-022-01281-y. PMID: 35668506Free PMC Article
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
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
Carbone F, Goelen N, Fikree A, Aziz Q, Tack J
Neurogastroenterol Motil 2021 Jul;33(7):e14086. Epub 2021 Feb 2 doi: 10.1111/nmo.14086. PMID: 33528850
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

Recent systematic reviews

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
Zhu XM, Toobaie A, Iansavichene A, Khan M, Degen RM
Knee Surg Sports Traumatol Arthrosc 2022 Nov;30(11):3907-3915. Epub 2022 May 23 doi: 10.1007/s00167-022-06997-2. PMID: 35604426
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
Gelfand AA, Johnson H, Lenaerts ME, Litwin JR, De Mesa C, Bogduk N, Goadsby PJ
Cephalalgia 2018 Feb;38(2):374-382. Epub 2017 Jan 18 doi: 10.1177/0333102416681570. PMID: 28100071
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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