Sparse hair - short stature - skin anomalies

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr: 79132
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance:
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

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
2
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
3
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
4
 (HPO:0001025) Urticaria Very frequent [Orphanet] 73 / 7739
5
 (HPO:0000953) Hyperpigmentation of the skin Very frequent [Orphanet] 75 / 7739
6
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
7
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: