Cerebro-facio-articular syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Van Maldergem syndrome
Number of Symptoms 47
OrphanetNr: 314679
OMIM Id: 601390
615546
ICD-10:
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: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias 250 / 7739
2
 (HPO:0000089) Renal hypoplasia 78 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000286) Epicanthus 371 / 7739
5
 (HPO:0000431) Wide nasal bridge 290 / 7739
6
 (HPO:0000341) Narrow forehead 96 / 7739
7
 (HPO:0000218) High palate 356 / 7739
8
 (HPO:0000689) Dental malocclusion 114 / 7739
9
 (HPO:0002714) Downturned corners of mouth 98 / 7739
10
 (HPO:0000581) Blepharophimosis 197 / 7739
11
 (HPO:0010804) Tented upper lip vermilion 47 / 7739
12
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
13
 (HPO:0010537) Wide cranial sutures 21 / 7739
14
 (HPO:0000272) Malar flattening 277 / 7739
15
 (HPO:0000260) Wide anterior fontanel 55 / 7739
16
 (HPO:0000316) Hypertelorism 644 / 7739
17
 (HPO:0000508) Ptosis 459 / 7739
18
 (HPO:0008551) Microtia 98 / 7739
19
 (HPO:0000405) Conductive hearing impairment 164 / 7739
20
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
21
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
22
 (HPO:0001249) Intellectual disability 1089 / 7739
23
 (HPO:0002650) Scoliosis 705 / 7739
24
 (HPO:0010044) Short 4th metacarpal 14 / 7739
25
 (HPO:0001762) Talipes equinovarus 309 / 7739
26
 (HPO:0001388) Joint laxity 117 / 7739
27
 (HPO:0002652) Skeletal dysplasia 113 / 7739
28
 (HPO:0000938) Osteopenia 138 / 7739
29
 (HPO:0000894) Short clavicles 30 / 7739
30
 (HPO:0000774) Narrow chest 167 / 7739
31
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
32
 (HPO:0000960) Sacral dimple 29 / 7739
33
 (HPO:0004689) Short fourth metatarsal 9 / 7739
34
 (HPO:0002023) Anal atresia 135 / 7739
35
 (HPO:0011968) Feeding difficulties 240 / 7739
36
 (HPO:0001545) Anteriorly placed anus 55 / 7739
37
 (HPO:0001510) Growth delay 295 / 7739
38
 (HPO:0001252) Muscular hypotonia 990 / 7739
39
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
40
 (HPO:0011800) Midface retrusion 221 / 7739
41
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
42
 (HPO:0003577) Congenital onset 133 / 7739
43
 (HPO:0040079) Irregular dentition 7 / 7739
44
 (HPO:0009879) Cortical gyral simplification 24 / 7739
45
 (HPO:0001302) Pachygyria 60 / 7739
46
 (HPO:0012745) Short palpebral fissure 47 / 7739
47
 (HPO:0030084) Clinodactyly 90 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: