Radial ray hypoplasia - choanal atresia

General Information (adopted from Orphanet):

Synonyms, Signs: Goldblatt-Viljoen syndrome
Number of Symptoms 19
OrphanetNr: 3026
OMIM Id: 179270
ICD-10:
UMLs: C0339838
C2931464
MeSH: C536263
C537280
MedDRA:
Snomed: 232373003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Nose and cavum anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
2
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
3
 (HPO:0000452) Choanal stenosis 23 / 7739
4
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
5
 (HPO:0000565) Esotropia 58 / 7739
6
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
7
 (HPO:0009622) Distally placed thumb 1 / 7739
8
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
9
 (HPO:0001245) Small thenar eminence 10 / 7739
10
 (HPO:0009778) Short thumb 50 / 7739
11
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
12
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
13
 (HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
14
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
15
 (HPO:0001052) Nevus flammeus Frequent [Orphanet] 88 / 7739
16
 (HPO:0001199) Triphalangeal thumb Very frequent [Orphanet] 56 / 7739
17
 (OMIM) Hypoplastic forearm muscles 1 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
 (OMIM) Chronic blocked nose 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: