ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 29
OrphanetNr:
OMIM Id: 609944
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000047) Hypospadias 250 / 7739
2
(HPO:0000322) Short philtrum 130 / 7739
3
(HPO:0000272) Malar flattening 277 / 7739
4
(HPO:0000426) Prominent nasal bridge 121 / 7739
5
(HPO:0000490) Deeply set eye 131 / 7739
6
(HPO:0000535) Sparse and thin eyebrow 76 / 7739
7
(HPO:0011800) Midface retrusion 221 / 7739
8
(HPO:0000276) Long face 109 / 7739
9
(HPO:0000218) High palate 356 / 7739
10
(HPO:0001128) Trichiasis 4 / 7739
11
(HPO:0000621) Entropion 12 / 7739
12
(HPO:0000347) Micrognathia 426 / 7739
13
(HPO:0000486) Strabismus 576 / 7739
14
(HPO:0000613) Photophobia 158 / 7739
15
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
16
(HPO:0000767) Pectus excavatum 244 / 7739
17
(HPO:0009466) Radial deviation of finger 101 / 7739
18
(HPO:0002808) Kyphosis 289 / 7739
19
(HPO:0000023) Inguinal hernia 181 / 7739
20
(HPO:0000968) Ectodermal dysplasia 46 / 7739
21
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
22
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
(MedDRA:10010984) Corneal abrasion 4 / 7739
24
(MedDRA:10058668) Clinodactyly 91 / 7739
25
(OMIM) Balanced translocation carrier 46,XY,+(11:18)(p13:q21)mat 1 / 7739
26
(OMIM) Poor corneal tear film 1 / 7739
27
(OMIM) Abnormal/absent meibomian glands 1 / 7739
28
(OMIM) Coarse, dry scalp hair 2 / 7739
29
(OMIM) Progressive thinning of scalp hair 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hill et al. (2004) reported 2 brothers with trichiasis (misdirected lashes), entropion with corneal abrasions, strabismus, progressive thinning of the scalp hair, sensorineural hearing impairment, mild learning difficulties, and inguinal hernias. The brothers had distinctive facial features with ...