AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES

General Information (adopted from Orphanet):

Synonyms, Signs: IRIS DYSPLASIA WITH OCULAR HYPERTELORISM, PSYCHOMOTOR RETARDATION, AND SENSORINEURAL DEAFNESS
DE HAUWERE SYNDROME
Number of Symptoms 33
OrphanetNr:
OMIM Id: 109120
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000506) Telecanthus 156 / 7739
2
(HPO:0002690) Large sella turcica 12 / 7739
3
(HPO:0012368) Flat face 106 / 7739
4
(HPO:0000256) Macrocephaly 298 / 7739
5
(HPO:0000520) Proptosis 192 / 7739
6
(HPO:0000272) Malar flattening 277 / 7739
7
(HPO:0000248) Brachycephaly 222 / 7739
8
(HPO:0000316) Hypertelorism 644 / 7739
9
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
10
(HPO:0007873) Abnormally prominent line of Schwalbe 4 / 7739
11
(HPO:0000486) Strabismus 576 / 7739
12
(HPO:0000558) Rieger anomaly 5 / 7739
13
(HPO:0007676) Hypoplasia of the iris 22 / 7739
14
(HPO:0007886) Absent extraocular muscles 1 / 7739
15
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
16
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
17
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
18
(HPO:0006958) Abnormal auditory evoked potentials 12 / 7739
19
(HPO:0001249) Intellectual disability 1089 / 7739
20
(HPO:0002673) Coxa valga 57 / 7739
21
(HPO:0002827) Hip dislocation 94 / 7739
22
(HPO:0000925) Abnormality of the vertebral column 20 / 7739
23
(HPO:0004322) Short stature 1232 / 7739
24
(HPO:0010547) Muscle flaccidity 466 / 7739
25
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
26
(HPO:0001252) Muscular hypotonia 990 / 7739
27
(HPO:0001324) Muscle weakness 859 / 7739
28
(OMIM) Lumbar vertebrae tall 2 / 7739
29
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
30
(OMIM) Mild proptosis 2 / 7739
31
(OMIM) Joint hyperlaxity 5 / 7739
32
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
33
(HPO:0002119) Ventriculomegaly 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The Axenfeld-Rieger group of anomalies includes Axenfeld anomaly (defects limited to the peripheral anterior segment of the eye), Rieger anomaly (peripheral abnormalities of the anterior segment with additional changes in the iris), and Axenfeld-Rieger syndrome (eye abnormalities plus ...