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Choanal atresia with radial ray hypoplasia

MedGen UID:
419083
Concept ID:
C2931464
Disease or Syndrome
Synonyms: Goldblatt-Viljoen syndrome; Radial ray hypoplasia and choanal atresia; Radial ray hypoplasia choanal atresia; Radial ray hypoplasia-choanal atresia syndrome
SNOMED CT: Choanal atresia with radial ray hypoplasia (232373003); Goldblatt Viljoen syndrome (232373003)
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.
 
Monarch Initiative: MONDO:0008358
OMIM®: 179270
Orphanet: ORPHA3026

Definition

An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait. [from SNOMEDCT_US]

Clinical features

From HPO
Short thumb
MedGen UID:
98469
Concept ID:
C0431890
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
Hypoplasia of the radius
MedGen UID:
672334
Concept ID:
C0685381
Congenital Abnormality
Underdevelopment of the radius.
Small thenar eminence
MedGen UID:
335432
Concept ID:
C1846474
Finding
Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.
Distally placed thumb
MedGen UID:
869839
Concept ID:
C4024270
Anatomical Abnormality
Insertion of thumb at a more distal location than normal.
Choanal atresia
MedGen UID:
3395
Concept ID:
C0008297
Congenital Abnormality
Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
Choanal stenosis
MedGen UID:
108427
Concept ID:
C0584837
Finding
Abnormal narrowing of the choana (the posterior nasal aperture).
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChoanal atresia with radial ray hypoplasia

Recent clinical studies

Diagnosis

Lehalle D, Gordon CT, Oufadem M, Goudefroye G, Boutaud L, Alessandri JL, Baena N, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Decaestecker C, Gaillard D, Goldenberg A, Gonzales M, Holder-Espinasse M, Jacquemont ML, Lacombe D, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Morin G, Pasquier L, Petit F, Rio M, Smigiel R, Thauvin-Robinet C, Vasiljevic A, Verloes A, Malan V, Munnich A, de Pontual L, Vekemans M, Lyonnet S, Attié-Bitach T, Amiel J
Hum Mutat 2014 Apr;35(4):478-85. Epub 2014 Mar 5 doi: 10.1002/humu.22517. PMID: 24470203
Cox H, Viljoen D, Versfeld G, Beighton P
Clin Genet 1989 May;35(5):322-30. doi: 10.1111/j.1399-0004.1989.tb02952.x. PMID: 2788043

Prognosis

Cox H, Viljoen D, Versfeld G, Beighton P
Clin Genet 1989 May;35(5):322-30. doi: 10.1111/j.1399-0004.1989.tb02952.x. PMID: 2788043
Goldblatt J, Viljoen D
Am J Med Genet 1987 Nov;28(3):647-54. doi: 10.1002/ajmg.1320280312. PMID: 3425633

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