Autosomal recessive palmoplantar keratoderma and congenital alopecia

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME
CASS
ppk-ca, wallis type
Palmoplantar keratoderma and congenital alopecia, Wallis type
Cataract - alopecia - sclerodactyly
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
Number of Symptoms 28
OrphanetNr: 1366
OMIM Id: 212360
ICD-10: Q82.8
Q84.0
UMLs: C1859316
MeSH: C535336
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease
Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
2
 (HPO:0000519) Congenital cataract 73 / 7739
3
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
4
 (HPO:0009775) Amniotic constriction ring 21 / 7739
5
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
6
 (HPO:0100490) Camptodactyly of finger 212 / 7739
7
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
8
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
9
 (HPO:0007418) Alopecia totalis 6 / 7739
10
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
11
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
12
 (HPO:0002164) Nail dysplasia 82 / 7739
13
 (HPO:0008404) Nail dystrophy 89 / 7739
14
 (HPO:0000958) Dry skin 152 / 7739
15
 (HPO:0000987) Atypical scarring of skin Very frequent [Orphanet] 58 / 7739
16
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
17
 (HPO:0001041) Facial erythema 8 / 7739
18
 (HPO:0100679) Lack of skin elasticity Very frequent [Orphanet] 29 / 7739
19
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
20
 (HPO:0011838) Sclerodactyly 8 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (MedDRA:10066295) Keratosis pilaris 11 / 7739
23
 (OMIM) Alopecia, congenital, total 2 / 7739
24
 (OMIM) Contractures of the digits due to skin tightening 1 / 7739
25
 (OMIM) Pseudoainhum formation 1 / 7739
26
 (OMIM) Spiny follicular plugging 1 / 7739
27
 (OMIM) Tapering of the fingers 1 / 7739
28
 (OMIM) Ulerythema ophryogenes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) In a review of ectodermal dysplasia syndromes characterized by palmoplantar keratoderma (PPK) and congenital alopecia, Castori et al. (2010) suggested that there are 2 main types of unclassified syndromes that combine these 2 features. A more severe recessive ...
Clinical Description OMIM On the island of Rodrigues in the Indian Ocean, Wallis et al. (1989) described a family in which 3 sisters and 2 brothers of reportedly unrelated parents had total congenital alopecia, bilateral congenital cataracts, and skin changes of ...