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Cervical hypertrichosis-peripheral neuropathy syndrome

MedGen UID:
341004
•Concept ID:
C1855902
•
Disease or Syndrome
Synonyms: Cervical hypertrichosis neuropathy; Familial congenital anterior cervical hypertrichosis associated with peripheral sensory and motor neuropathy; Hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy
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:0009405
OMIM®: 239840
Orphanet: ORPHA2218

Definition

A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993. [from ORDO]

Clinical features

From HPO
Sensory neuropathy
MedGen UID:
101791
•Concept ID:
C0151313
•
Disease or Syndrome
Peripheral neuropathy affecting the sensory nerves.
See: Feature record | Search on this feature
Motor polyneuropathy
MedGen UID:
82885
•Concept ID:
C0271683
•
Disease or Syndrome
Inflammation or degeneration of the peripheral motor nerves.
See: Feature record | Search on this feature
Osteomyelitis
MedGen UID:
10497
•Concept ID:
C0029443
•
Disease or Syndrome
Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
See: Feature record | Search on this feature
Isolated anterior cervical hypertrichosis
MedGen UID:
325346
•Concept ID:
C1838123
•
Disease or Syndrome
Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCervical hypertrichosis-peripheral neuropathy syndrome

Professional guidelines

PubMed

Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.
Kazachkov M, Palma JA, Norcliffe-Kaufmann L, Bar-Aluma BE, Spalink CL, Barnes EP, Amoroso NE, Balou SM, Bess S, Chopra A, Condos R, Efrati O, Fitzgerald K, Fridman D, Goldenberg RM, Goldhaber A, Kaufman DA, Kothare SV, Levine J, Levy J, Lubinsky AS, Maayan C, Moy LC, Rivera PJ, Rodriguez AJ, Sokol G, Sloane MF, Tan T, Kaufmann H
Respir Med 2018 Aug;141:37-46. Epub 2018 Jun 21 doi: 10.1016/j.rmed.2018.06.017. PMID: 30053970Free PMC Article
Dental Treatment Planning for the Patient with Oral Cancer.
Levi LE, Lalla RV
Dent Clin North Am 2018 Jan;62(1):121-130. Epub 2017 Oct 7 doi: 10.1016/j.cden.2017.08.009. PMID: 29126489
Eagle's syndrome: embryology, anatomy, and clinical management.
Fusco DJ, Asteraki S, Spetzler RF
Acta Neurochir (Wien) 2012 Jul;154(7):1119-26. Epub 2012 May 26 doi: 10.1007/s00701-012-1385-2. PMID: 22638594

Recent clinical studies

Etiology

Pathophysiological mechanisms and therapeutic approaches in obstructive sleep apnea syndrome.
Lv R, Liu X, Zhang Y, Dong N, Wang X, He Y, Yue H, Yin Q
Signal Transduct Target Ther 2023 May 25;8(1):218. doi: 10.1038/s41392-023-01496-3. PMID: 37230968Free PMC Article
Literature Commentary.
J Neuroophthalmol 2021 Dec 1;41(4):553-559. doi: 10.1097/WNO.0000000000001447. PMID: 34788240
Physical therapy management, surgical treatment, and patient-reported outcomes measures in a prospective observational cohort of patients with neurogenic thoracic outlet syndrome.
Balderman J, Abuirqeba AA, Eichaker L, Pate C, Earley JA, Bottros MM, Jayarajan SN, Thompson RW
J Vasc Surg 2019 Sep;70(3):832-841. Epub 2019 Mar 7 doi: 10.1016/j.jvs.2018.12.027. PMID: 30852035
Dental Treatment Planning for the Patient with Oral Cancer.
Levi LE, Lalla RV
Dent Clin North Am 2018 Jan;62(1):121-130. Epub 2017 Oct 7 doi: 10.1016/j.cden.2017.08.009. PMID: 29126489
Guillain-Barré and Miller Fisher syndromes--new diagnostic classification.
Wakerley BR, Uncini A, Yuki N; GBS Classification Group; GBS Classification Group
Nat Rev Neurol 2014 Sep;10(9):537-44. Epub 2014 Jul 29 doi: 10.1038/nrneurol.2014.138. PMID: 25072194

Diagnosis

Carpal tunnel syndrome: updated evidence and new questions.
Padua L, Cuccagna C, Giovannini S, Coraci D, Pelosi L, Loreti C, Bernabei R, Hobson-Webb LD
Lancet Neurol 2023 Mar;22(3):255-267. Epub 2022 Dec 13 doi: 10.1016/S1474-4422(22)00432-X. PMID: 36525982
Scalp dysesthesia: a neuropathic phenomenon.
Ju T, Vander Does A, Yosipovitch G
J Eur Acad Dermatol Venereol 2022 Jun;36(6):790-796. Epub 2022 Feb 14 doi: 10.1111/jdv.17985. PMID: 35122352
Entrapment Neuropathies of the Upper Extremity.
Doughty CT, Bowley MP
Med Clin North Am 2019 Mar;103(2):357-370. doi: 10.1016/j.mcna.2018.10.012. PMID: 30704687
Double Crush Syndrome.
Kane PM, Daniels AH, Akelman E
J Am Acad Orthop Surg 2015 Sep;23(9):558-62. doi: 10.5435/JAAOS-D-14-00176. PMID: 26306807
Guillain-Barré and Miller Fisher syndromes--new diagnostic classification.
Wakerley BR, Uncini A, Yuki N; GBS Classification Group; GBS Classification Group
Nat Rev Neurol 2014 Sep;10(9):537-44. Epub 2014 Jul 29 doi: 10.1038/nrneurol.2014.138. PMID: 25072194

Therapy

Pathophysiological mechanisms and therapeutic approaches in obstructive sleep apnea syndrome.
Lv R, Liu X, Zhang Y, Dong N, Wang X, He Y, Yue H, Yin Q
Signal Transduct Target Ther 2023 May 25;8(1):218. doi: 10.1038/s41392-023-01496-3. PMID: 37230968Free PMC Article
Axonal variants of Guillain-Barré syndrome: an update.
Shang P, Zhu M, Wang Y, Zheng X, Wu X, Zhu J, Feng J, Zhang HL
J Neurol 2021 Jul;268(7):2402-2419. Epub 2020 Mar 5 doi: 10.1007/s00415-020-09742-2. PMID: 32140865
Physical therapy management, surgical treatment, and patient-reported outcomes measures in a prospective observational cohort of patients with neurogenic thoracic outlet syndrome.
Balderman J, Abuirqeba AA, Eichaker L, Pate C, Earley JA, Bottros MM, Jayarajan SN, Thompson RW
J Vasc Surg 2019 Sep;70(3):832-841. Epub 2019 Mar 7 doi: 10.1016/j.jvs.2018.12.027. PMID: 30852035
Obstructive sleep apnoea syndrome.
Lévy P, Kohler M, McNicholas WT, Barbé F, McEvoy RD, Somers VK, Lavie L, Pépin JL
Nat Rev Dis Primers 2015 Jun 25;1:15015. doi: 10.1038/nrdp.2015.15. PMID: 27188535
Neuropathic pain after dental treatment.
Tınastepe N, Oral K
Agri 2013;25(1):1-6. doi: 10.5505/agri.2013.55477. PMID: 23588863

Prognosis

Carpal tunnel sonography.
Gervasio A, Stelitano C, Bollani P, Giardini A, Vanzetti E, Ferrari M
J Ultrasound 2020 Sep;23(3):337-347. Epub 2020 Apr 22 doi: 10.1007/s40477-020-00460-z. PMID: 32323256Free PMC Article
Physical therapy management, surgical treatment, and patient-reported outcomes measures in a prospective observational cohort of patients with neurogenic thoracic outlet syndrome.
Balderman J, Abuirqeba AA, Eichaker L, Pate C, Earley JA, Bottros MM, Jayarajan SN, Thompson RW
J Vasc Surg 2019 Sep;70(3):832-841. Epub 2019 Mar 7 doi: 10.1016/j.jvs.2018.12.027. PMID: 30852035
Bilateral vestibulopathy.
Strupp M, Feil K, Dieterich M, Brandt T
Handb Clin Neurol 2016;137:235-40. doi: 10.1016/B978-0-444-63437-5.00017-0. PMID: 27638075
Double Crush Syndrome.
Kane PM, Daniels AH, Akelman E
J Am Acad Orthop Surg 2015 Sep;23(9):558-62. doi: 10.5435/JAAOS-D-14-00176. PMID: 26306807
Suprascapular neuropathy.
Piasecki DP, Romeo AA, Bach BR Jr, Nicholson GP
J Am Acad Orthop Surg 2009 Nov;17(11):665-76. doi: 10.5435/00124635-200911000-00001. PMID: 19880677

Clinical prediction guides

Emerging biomarkers to predict clinical outcomes in Guillain-Barré syndrome.
Breville G, Sukockiene E, Vargas MI, Lascano AM
Expert Rev Neurother 2023 Jul-Dec;23(12):1201-1215. Epub 2023 Dec 15 doi: 10.1080/14737175.2023.2273386. PMID: 37902064
Physical therapy management, surgical treatment, and patient-reported outcomes measures in a prospective observational cohort of patients with neurogenic thoracic outlet syndrome.
Balderman J, Abuirqeba AA, Eichaker L, Pate C, Earley JA, Bottros MM, Jayarajan SN, Thompson RW
J Vasc Surg 2019 Sep;70(3):832-841. Epub 2019 Mar 7 doi: 10.1016/j.jvs.2018.12.027. PMID: 30852035
Eagle's syndrome: embryology, anatomy, and clinical management.
Fusco DJ, Asteraki S, Spetzler RF
Acta Neurochir (Wien) 2012 Jul;154(7):1119-26. Epub 2012 May 26 doi: 10.1007/s00701-012-1385-2. PMID: 22638594
Suprascapular neuropathy.
Piasecki DP, Romeo AA, Bach BR Jr, Nicholson GP
J Am Acad Orthop Surg 2009 Nov;17(11):665-76. doi: 10.5435/00124635-200911000-00001. PMID: 19880677
Thoracic outlet syndrome.
Huang JH, Zager EL
Neurosurgery 2004 Oct;55(4):897-902; discussion 902-3. doi: 10.1227/01.neu.0000137333.04342.4d. PMID: 15458598

Recent systematic reviews

Surgical Neuromodulation of Traumatic Brachial Plexus Injuries a Systematic Review and Meta-analysis.
AlAbbas FM
Med Arch 2023;77(5):370-376. doi: 10.5455/medarh.2023.77.370-376. PMID: 38299090Free PMC Article
Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.
Kazachkov M, Palma JA, Norcliffe-Kaufmann L, Bar-Aluma BE, Spalink CL, Barnes EP, Amoroso NE, Balou SM, Bess S, Chopra A, Condos R, Efrati O, Fitzgerald K, Fridman D, Goldenberg RM, Goldhaber A, Kaufman DA, Kothare SV, Levine J, Levy J, Lubinsky AS, Maayan C, Moy LC, Rivera PJ, Rodriguez AJ, Sokol G, Sloane MF, Tan T, Kaufmann H
Respir Med 2018 Aug;141:37-46. Epub 2018 Jun 21 doi: 10.1016/j.rmed.2018.06.017. PMID: 30053970Free PMC Article
Predictors of respiratory failure in patients with Guillain-Barré syndrome: a systematic review and meta-analysis.
Green C, Baker T, Subramaniam A
Med J Aust 2018 Mar 5;208(4):181-188. doi: 10.5694/mja17.00552. PMID: 29490222
Head and Neck Manifestations of Eosinophilic Granulomatosis with Polyangiitis: A Systematic Review.
Goldfarb JM, Rabinowitz MR, Basnyat S, Nyquist GG, Rosen MR
Otolaryngol Head Neck Surg 2016 Nov;155(5):771-778. Epub 2016 Jun 28 doi: 10.1177/0194599816657044. PMID: 27352890
The association between ophthalmologic diseases and obstructive sleep apnea: a systematic review and meta-analysis.
Huon LK, Liu SY, Camacho M, Guilleminault C
Sleep Breath 2016 Dec;20(4):1145-1154. Epub 2016 May 26 doi: 10.1007/s11325-016-1358-4. PMID: 27230013

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