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Alar cartilages hypoplasia-coloboma-telecanthus syndrome

MedGen UID:
348504
•Concept ID:
C1859964
•
Disease or Syndrome
Synonyms: Coloboma of alar-nasal cartilages with telecanthus; Frontonasal dysplasia with alar clefts
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:0008744
OMIM®: 203000
Orphanet: ORPHA2007

Definition

A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. [from ORDO]

Clinical features

From HPO
Telecanthus
MedGen UID:
140836
•Concept ID:
C0423113
•
Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
See: Feature record | Search on this feature
Underdeveloped nasal alae
MedGen UID:
322332
•Concept ID:
C1834055
•
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
See: Feature record | Search on this feature
Cleft ala nasi
MedGen UID:
336715
•Concept ID:
C1844537
•
Finding
The presence of a notch in the margin of the ala nasi.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlar cartilages hypoplasia-coloboma-telecanthus syndrome
Follow this link to review classifications for Alar cartilages hypoplasia-coloboma-telecanthus syndrome in Orphanet.

Recent clinical studies

Etiology

Surgical correction of stenotic nares using a single pedicle advancement flap technique in three brachycephalic cats.
Rahimdoust Mozhdehi N, Salari Sedigh H, Kazemi Mehrjerdi H
Vet Med Sci 2023 Nov;9(6):2410-2413. Epub 2023 Oct 28 doi: 10.1002/vms3.1309. PMID: 37897212Free PMC Article
Oculoauriculovertebral spectrum with a full range of severe clinical manifestations--case report.
Gawrych E, Janiszewska-Olszowska J, Chojnacka H
J Craniomaxillofac Surg 2014 Dec;42(8):2064-8. Epub 2011 Dec 11 doi: 10.1016/j.jcms.2011.10.010. PMID: 22154733

Diagnosis

Oculoauriculovertebral spectrum with a full range of severe clinical manifestations--case report.
Gawrych E, Janiszewska-Olszowska J, Chojnacka H
J Craniomaxillofac Surg 2014 Dec;42(8):2064-8. Epub 2011 Dec 11 doi: 10.1016/j.jcms.2011.10.010. PMID: 22154733
Oral-facial-digital type 1 syndrome of Papillon-Léage and Psaume.
Larralde de Luna M, Raspa ML, Ibargoyen J
Pediatr Dermatol 1992 Mar;9(1):52-6. doi: 10.1111/j.1525-1470.1992.tb00326.x. PMID: 1574477

Therapy

Severe cervical dysplasia and nasal cartilage calcification following prenatal warfarin exposure.
Howe AM, Lipson AH, de Silva M, Ouvrier R, Webster WS
Am J Med Genet 1997 Sep 5;71(4):391-6. doi: 10.1002/(sici)1096-8628(19970905)71:4<391::aid-ajmg4>3.0.co;2-x. PMID: 9286443
Postoperative sequelae and complications of rhinoplasty.
Holt GR, Garner ET, McLarey D
Otolaryngol Clin North Am 1987 Nov;20(4):853-76. PMID: 3320872

Prognosis

Oculoauriculovertebral spectrum with a full range of severe clinical manifestations--case report.
Gawrych E, Janiszewska-Olszowska J, Chojnacka H
J Craniomaxillofac Surg 2014 Dec;42(8):2064-8. Epub 2011 Dec 11 doi: 10.1016/j.jcms.2011.10.010. PMID: 22154733

Supplemental Content

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    Clinical resources

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    • PubMed (OMIM)
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