Ectodermal dysplasia - blindness

General Information (adopted from Orphanet):

Synonyms, Signs: MICROPHTHALMIA, MICROCORNEA, AND SCLEROCORNEA WITH SHORT STATURE AND HAIR AND DENTAL ABNORMALITIES
Number of Symptoms 33
OrphanetNr: 1806
OMIM Id: 268320
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Ectodermal malformation syndrome associated with ocular features
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001097) Keratoconjunctivitis sicca Occasional [Orphanet] 25 / 7739
2
 (HPO:0000568) Microphthalmia 183 / 7739
3
 (HPO:0000482) Microcornea Very frequent [Orphanet] 102 / 7739
4
 (HPO:0001131) Corneal dystrophy Very frequent [Orphanet] 56 / 7739
5
 (HPO:0000647) Sclerocornea Very frequent [Orphanet] 25 / 7739
6
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
7
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
8
 (HPO:0000618) Blindness 124 / 7739
9
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
10
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
11
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
 (HPO:0001249) Intellectual disability 1089 / 7739
13
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
14
 (HPO:0008070) Sparse hair 94 / 7739
15
 (HPO:0010719) Abnormality of hair texture Occasional [Orphanet] 24 / 7739
16
 (HPO:0002213) Fine hair 77 / 7739
17
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
18
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
19
 (HPO:0004370) Abnormality of temperature regulation Occasional [Orphanet] 58 / 7739
20
 (HPO:0000478) Abnormality of the eye Occasional [Orphanet] 126 / 7739
21
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
22
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
23
 (HPO:0000692) Misalignment of teeth 18 / 7739
24
 (HPO:0000446) Narrow nasal bridge Very frequent [Orphanet] 29 / 7739
25
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
26
 (HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
27
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
28
 (HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
29
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
30
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
31
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
32
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
33
 (OMIM) Distal nasal flaring 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: