Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis

General Information (adopted from Orphanet):

Synonyms, Signs: Berant syndrome
Capra-DeMarco syndrome
Familial scaphocephaly - radioulnar synostosis
Number of Symptoms 38
OrphanetNr: 171839
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: X-linked recessive inheritance
Autosomal dominant inheritance
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
2
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
3
 (HPO:0008678) Renal hypoplasia/aplasia Very frequent [Orphanet] 127 / 7739
4
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
5
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
6
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
7
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
8
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
9
 (HPO:0009933) Narrow naris Frequent [Orphanet] 16 / 7739
10
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
11
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
12
 (HPO:0000262) Turricephaly Very frequent [Orphanet] 38 / 7739
13
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
14
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
15
 (HPO:0000436) Abnormality of the nasal tip Very frequent [Orphanet] 18 / 7739
16
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
17
 (HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
18
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
19
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
20
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
21
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
22
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
23
 (HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 76 / 7739
24
 (HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 54 / 7739
25
 (HPO:0000768) Pectus carinatum Very frequent [Orphanet] 136 / 7739
26
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
27
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
28
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
29
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
30
 (HPO:0002974) Radioulnar synostosis Very frequent [Orphanet] 52 / 7739
31
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
32
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
33
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
34
 (HPO:0001601) Laryngomalacia Frequent [Orphanet] 61 / 7739
35
 (HPO:0002308) Arnold-Chiari malformation Very frequent [Orphanet] 42 / 7739
36
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
37
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
38
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: