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PARC syndrome

MedGen UID:
373923
•Concept ID:
C1838256
•
Disease or Syndrome
Synonym: Poikiloderma, Alopecia, Retrognathism, and Cleft palate
SNOMED CT: PARC syndrome (771186004); Poikiloderma, alopecia, retrognathism, cleft palate syndrome (771186004); PARC (poikiloderma, alopecia, retrognathism, cleft palate) syndrome (771186004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010867
OMIM®: 600331
Orphanet: ORPHA2825

Definition

A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. [from SNOMEDCT_US]

Clinical features

From HPO
Microretrognathia
MedGen UID:
326907
•Concept ID:
C1839546
•
Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
See: Feature record | Search on this feature
Absent eyebrow
MedGen UID:
98133
•Concept ID:
C0431448
•
Congenital Abnormality
Absence of the eyebrow.
See: Feature record | Search on this feature
Cleft palate
MedGen UID:
756015
•Concept ID:
C2981150
•
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
See: Feature record | Search on this feature
Alopecia
MedGen UID:
7982
•Concept ID:
C0002170
•
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
See: Feature record | Search on this feature
Poikiloderma
MedGen UID:
97905
•Concept ID:
C0392777
•
Disease or Syndrome
Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
See: Feature record | Search on this feature
Absent eyelashes
MedGen UID:
334299
•Concept ID:
C1843005
•
Congenital Abnormality
Lack of eyelashes.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPARC syndrome
Follow this link to review classifications for PARC syndrome in Orphanet.

Professional guidelines

PubMed

Multidisciplinary practice guidelines for the diagnosis, genetic counseling and treatment of pheochromocytomas and paragangliomas.
Garcia-Carbonero R, Matute Teresa F, Mercader-Cidoncha E, Mitjavila-Casanovas M, Robledo M, Tena I, Alvarez-Escola C, Arístegui M, Bella-Cueto MR, Ferrer-Albiach C, Hanzu FA
Clin Transl Oncol 2021 Oct;23(10):1995-2019. Epub 2021 May 6 doi: 10.1007/s12094-021-02622-9. PMID: 33959901Free PMC Article
Obstructive sleep disordered breathing in 2- to 18-year-old children: diagnosis and management.
Kaditis AG, Alonso Alvarez ML, Boudewyns A, Alexopoulos EI, Ersu R, Joosten K, Larramona H, Miano S, Narang I, Trang H, Tsaoussoglou M, Vandenbussche N, Villa MP, Van Waardenburg D, Weber S, Verhulst S
Eur Respir J 2016 Jan;47(1):69-94. Epub 2015 Nov 5 doi: 10.1183/13993003.00385-2015. PMID: 26541535
Peutz-Jeghers syndrome: a systematic review and recommendations for management.
Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV
Gut 2010 Jul;59(7):975-86. doi: 10.1136/gut.2009.198499. PMID: 20581245

Recent clinical studies

Clinical prediction guides

Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome?
Verloes A, Soyeur-Broux M, Arrese-Estrada J, Piérard-Franchimont C, Dodinval P, Piérard GE
Dermatologica 1990;181(2):142-4. doi: 10.1159/000247904. PMID: 2242783

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
      Related literature resources in PubMed

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