Trichodermodysplasia - dental alterations

General Information (adopted from Orphanet):

Synonyms, Signs: Pinheiro-Freire Maia-Miranda syndrome
Number of Symptoms 19
OrphanetNr: 3353
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

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:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
2
(HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
3
(HPO:0009720) Adenoma sebaceum Occasional [Orphanet] 12 / 7739
4
(HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
5
(HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
6
(HPO:0011069) Increased number of teeth Frequent [Orphanet] 39 / 7739
7
(HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
8
(HPO:0005338) Sparse lateral eyebrow Frequent [Orphanet] 21 / 7739
9
(HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
10
(HPO:0000540) Hypermetropia Occasional [Orphanet] 99 / 7739
11
(HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
12
(HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
13
(HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
14
(HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
15
(HPO:0008069) Neoplasm of the skin Very frequent [Orphanet] 84 / 7739
16
(HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
17
(HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
18
(HPO:0002299) Brittle hair Very frequent [Orphanet] 52 / 7739
19
(HPO:0000957) Cafe-au-lait spot Occasional [Orphanet] 84 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: