CHANDS

General Information (adopted from Orphanet):

Synonyms, Signs: CURLY HAIR-ANKYLOBLEPHARON-NAIL DYSPLASIA SYNDROME
Number of Symptoms 6
OrphanetNr:
OMIM Id: 214350
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0009755) Ankyloblepharon 10 / 7739
2
(HPO:0002710) Commissural lip pit 5 / 7739
3
(HPO:0002212) Curly hair 21 / 7739
4
(HPO:0002164) Nail dysplasia 82 / 7739
5
(OMIM) Ankyloblepharon filiform 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Baughman (1971) described a seemingly distinct 'new' syndrome characterized by curly hair and hypoplastic nails with congenital ankyloblepharon (fusion of eyelids).

Toriello (1994) suggested that the disorder reported by Ohishi et al. (1991) as a possibly ...