Deafness - enamel hypoplasia - nail defects

General Information (adopted from Orphanet):

Synonyms, Signs: heimler syndrome
Number of Symptoms 39
OrphanetNr: 3220
OMIM Id: 234580
ICD-10:
UMLs: C1856186
MeSH: C535994
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000786) Primary amenorrhea Frequent [Orphanet] 61 / 7739
2
 (HPO:0000349) Widow's peak Occasional [Orphanet] 26 / 7739
3
 (HPO:0000705) Amelogenesis imperfecta 25 / 7739
4
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
5
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
6
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
7
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
8
 (HPO:0000311) Round face Frequent [Orphanet] 104 / 7739
9
 (HPO:0000679) Taurodontia Very frequent [Orphanet] 27 / 7739
10
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
11
 (HPO:0007754) Macular dystrophy rare [HPO:skoehler] 26 / 7739
12
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
13
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
14
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
15
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
16
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
17
 (HPO:0003474) Sensory impairment Occasional [Orphanet] 54 / 7739
18
 (HPO:0001315) Reduced tendon reflexes Occasional [Orphanet] 160 / 7739
19
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
20
 (HPO:0000819) Diabetes mellitus Very frequent [Orphanet] 131 / 7739
21
 (HPO:0001176) Large hands Frequent [Orphanet] 43 / 7739
22
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
23
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
24
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
25
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
26
 (HPO:0008388) Abnormality of the toenails Very frequent [Orphanet] 28 / 7739
27
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
28
 (HPO:0008064) Ichthyosis Occasional [Orphanet] 108 / 7739
29
 (HPO:0000956) Acanthosis nigricans Occasional [Orphanet] 54 / 7739
30
 (HPO:0001820) Leukonychia Very frequent [Orphanet] 18 / 7739
31
 (HPO:0003777) Pili torti Very frequent [Orphanet] 24 / 7739
32
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
33
 (HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
34
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
35
 (OMIM) Punctate leukonychia 1 / 7739
36
 (OMIM) Normal primary teeth 1 / 7739
37
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
38
 (OMIM) Beau's lines (fingernails and toenails) 1 / 7739
39
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: