Ichthyosis - oral and digital anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: Clayton Smith-Donnai syndrome
Number of Symptoms 15
OrphanetNr: 2272
OMIM Id: 258840
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: Autosomal ichthyosis syndrome with other associated signs
 -Rare genetic disease
 -Rare skin disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
2
 (HPO:0000161) Median cleft lip Very frequent [Orphanet] 27 / 7739
3
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
4
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
5
 (HPO:0001032) Absent distal interphalangeal creases 9 / 7739
6
 (HPO:0001238) Slender finger Very frequent [Orphanet] 23 / 7739
7
 (HPO:0001155) Abnormality of the hand Very frequent [Orphanet] 54 / 7739
8
 (HPO:0001182) Tapered finger 93 / 7739
9
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
10
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
11
 (HPO:0007395) Postnatal-onset ichthyosiform erythroderma 1 / 7739
12
 (HPO:0040065) Abnormal morphology of bones of the upper limbs Very frequent [Orphanet] 25 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Gap between second and third fingers 1 / 7739
15
 (OMIM) Midline groove in lower lip 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: