Pilodental dysplasia - refractive errors

General Information (adopted from Orphanet):

Synonyms, Signs: TRICHODENTAL DYSPLASIA WITH HYPEROPIA
Euhidrotic ectodermal dysplasia
Kopysc-Barczyk-Krol syndrome
Number of Symptoms 31
OrphanetNr: 2892
OMIM Id: 262020
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Symptom Information: Sort by abundance 

1
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
2
 (HPO:0011065) Conical incisor 5 / 7739
3
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
4
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
5
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
6
 (HPO:0000431) Wide nasal bridge 290 / 7739
7
 (HPO:0000668) Hypodontia 81 / 7739
8
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
9
 (HPO:0002209) Sparse scalp hair 59 / 7739
10
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
11
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
12
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
13
 (HPO:0000483) Astigmatism Frequent [Orphanet] 67 / 7739
14
 (HPO:0000540) Hypermetropia Very frequent [Orphanet] 99 / 7739
15
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
16
 (HPO:0002299) Brittle hair 52 / 7739
17
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
18
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 72 / 7739
19
 (HPO:0007502) Follicular hyperkeratosis 12 / 7739
20
 (HPO:0001597) Abnormality of the nail 115 / 7739
21
 (HPO:0007588) Reticular hyperpigmentation 9 / 7739
22
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
23
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
24
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
25
 (OMIM) Sparse, thin, brittle scalp hair 1 / 7739
26
 (OMIM) Pili annulati 1 / 7739
27
 (OMIM) Conical crown form 1 / 7739
28
 (OMIM) Normal nails 15 / 7739
29
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
30
 (OMIM) Normal sweating 13 / 7739
31
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a sister and brother, with healthy nonconsanguineous parents, Kopysc et al. (1985) observed an apparently new form of ectodermal dysplasia with normal sweating and fingernails. Features were hypodontia, abnormally shaped teeth, scalp hypotrichosis, pili annulati, follicular hyperkeratosis ...