Cloverleaf skull - multiple congenital anomalies

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 28
OrphanetNr: 93267
OMIM Id: 607161
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0000062) Ambiguous genitalia Frequent [Orphanet] 74 / 7739
2
(HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
3
(HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
4
(HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
5
(HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
6
(HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
7
(HPO:0002714) Downturned corners of mouth Very frequent [Orphanet] 98 / 7739
8
(HPO:0002691) Platybasia Very frequent [Orphanet] 10 / 7739
9
(HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
10
(HPO:0002676) Cloverleaf skull Very frequent [Orphanet] 14 / 7739
11
(HPO:0004331) Decreased skull ossification Very frequent [Orphanet] 31 / 7739
12
(HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
13
(HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
14
(HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
15
(HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
16
(HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
17
(HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
18
(HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
19
(HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
20
(HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
21
(HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
22
(HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
23
(HPO:0009623) Proximal placement of thumb Frequent [Orphanet] 50 / 7739
24
(HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
25
(HPO:0001539) Omphalocele Frequent [Orphanet] 102 / 7739
26
(HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
27
(HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
28
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: