Arrhinia - choanal atresia - microphthalmia

General Information (adopted from Orphanet):

Synonyms, Signs: BOSMA ARHINIA MICROPHTHALMIA SYNDROME
Number of Symptoms 16
OrphanetNr: 1135
OMIM Id: 603457
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Nose and cavum anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000135) Hypogonadism 89 / 7739
2
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
3
 (HPO:0004408) Abnormality of the sense of smell 28 / 7739
4
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
5
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
6
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
7
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
8
 (HPO:0000568) Microphthalmia 183 / 7739
9
 (HPO:0009924) Aplasia/Hypoplasia involving the nose Very frequent [Orphanet] 18 / 7739
10
 (HPO:0004409) Hyposmia 16 / 7739
11
 (HPO:0009927) Aplasia of the nose 3 / 7739
12
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
13
 (HPO:0000632) Lacrimation abnormality Frequent [Orphanet] 42 / 7739
14
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye 142 / 7739
15
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
16
 (HPO:0004299) Hernia of the abdominal wall 176 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: