Isolated cloverleaf skull syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Kleeblattschaedel syndrome
Number of Symptoms 19
OrphanetNr: 2343
OMIM Id: 148800
600775
ICD-10: Q75.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 150 cases [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
2
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
3
 (HPO:0001363) Craniosynostosis Frequent [Orphanet] 132 / 7739
4
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
5
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
6
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
7
 (HPO:0002676) Cloverleaf skull 14 / 7739
8
 (HPO:0000495) Recurrent corneal erosions 20 / 7739
9
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
10
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
11
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
12
 (HPO:0003070) Elbow ankylosis 8 / 7739
13
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
14
 (HPO:0002652) Skeletal dysplasia Frequent [Orphanet] 113 / 7739
15
 (HPO:0000238) Hydrocephalus 278 / 7739
16
 (HPO:0003745) Sporadic 131 / 7739
17
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
18
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
19
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: