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. Autosomal dominant inheritance (Orphanet)

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.

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Hypoplasia of the radius

MedGen UID:: 672334
•Concept ID:: C0685381
•: Congenital Abnormality

Underdevelopment of the radius.

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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.

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Distally placed thumb

MedGen UID:: 869839
•Concept ID:: C4024270
•: Anatomical Abnormality

Insertion of thumb at a more distal location than normal.

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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.

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Choanal stenosis

MedGen UID:: 108427
•Concept ID:: C0584837
•: Finding

Abnormal narrowing of the choana (the posterior nasal aperture).

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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.

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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.

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Abnormality of head or neck
Abnormality of limbs
Abnormality of the eye
- Esotropia

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVChoanal atresia with radial ray hypoplasia

Nose and cavum anomaly
- Choanal atresia with radial ray hypoplasia

Recent clinical studies

Diagnosis

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

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

Radial ray defects and associated anomalies.

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

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