VAN MALDERGEM SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBROFACIOARTICULAR SYNDROME
VMLDS1
Number of Symptoms 59
OrphanetNr:
OMIM Id: 601390
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000089) Renal hypoplasia 78 / 7739
2
 (HPO:0000047) Hypospadias 250 / 7739
3
 (HPO:0000341) Narrow forehead 96 / 7739
4
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
5
 (HPO:0000218) High palate 356 / 7739
6
 (HPO:0000431) Wide nasal bridge 290 / 7739
7
 (HPO:0000272) Malar flattening 277 / 7739
8
 (HPO:0010537) Wide cranial sutures 21 / 7739
9
 (HPO:0000581) Blepharophimosis 197 / 7739
10
 (HPO:0002714) Downturned corners of mouth 98 / 7739
11
 (HPO:0000260) Wide anterior fontanel 55 / 7739
12
 (HPO:0000286) Epicanthus 371 / 7739
13
 (HPO:0010804) Tented upper lip vermilion 47 / 7739
14
 (HPO:0000689) Dental malocclusion 114 / 7739
15
 (HPO:0000347) Micrognathia 426 / 7739
16
 (HPO:0000316) Hypertelorism 644 / 7739
17
 (HPO:0000508) Ptosis 459 / 7739
18
 (HPO:0000405) Conductive hearing impairment 164 / 7739
19
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
20
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
21
 (HPO:0008551) Microtia 98 / 7739
22
 (HPO:0001249) Intellectual disability 1089 / 7739
23
 (HPO:0002652) Skeletal dysplasia 113 / 7739
24
 (HPO:0001762) Talipes equinovarus 309 / 7739
25
 (HPO:0000894) Short clavicles 30 / 7739
26
 (HPO:0000774) Narrow chest 167 / 7739
27
 (HPO:0001388) Joint laxity 117 / 7739
28
 (HPO:0000938) Osteopenia 138 / 7739
29
 (HPO:0001155) Abnormality of the hand 54 / 7739
30
 (HPO:0010554) Cutaneous finger syndactyly 39 / 7739
31
 (HPO:0002650) Scoliosis 705 / 7739
32
 (HPO:0010044) Short 4th metacarpal 14 / 7739
33
 (HPO:0000960) Sacral dimple 29 / 7739
34
 (HPO:0004689) Short fourth metatarsal 9 / 7739
35
 (HPO:0001760) Abnormality of the foot 96 / 7739
36
 (HPO:0001545) Anteriorly placed anus 55 / 7739
37
 (HPO:0002023) Anal atresia 135 / 7739
38
 (HPO:0011968) Feeding difficulties 240 / 7739
39
 (HPO:0001510) Growth delay 295 / 7739
40
 (HPO:0002779) Tracheomalacia 26 / 7739
41
 (HPO:0001324) Muscle weakness 859 / 7739
42
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
43
 (HPO:0010547) Muscle flaccidity 466 / 7739
44
 (HPO:0001252) Muscular hypotonia 990 / 7739
45
 (OMIM) Flexion of the PIP joints 2 / 7739
46
 (OMIM) Subluxation of the radial heads 3 / 7739
47
 (OMIM) Thickening of the nasal alae 2 / 7739
48
 (OMIM) Simplified gyral pattern 11 / 7739
49
 (OMIM) Webbing of the fingers 2 / 7739
50
 (OMIM) Respiratory difficulties due to tracheomalacia 2 / 7739
51
 (OMIM) Thickened skull base 2 / 7739
52
 (OMIM) Irregular dentition 6 / 7739
53
 (MedDRA:10066854) Periventricular nodular heterotopia 3 / 7739
54
 (OMIM) Thick gums 2 / 7739
55
 (HPO:0001302) Pachygyria 60 / 7739
56
 (OMIM) Thickened frontal bones 2 / 7739
57
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
58
 (OMIM) Subcortical band heterotopia 6 / 7739
59
 (MedDRA:10058668) Clinodactyly 91 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia ...
Clinical Description OMIM Van Maldergem et al. (1992) described a mentally retarded girl with facial abnormalities (tele- and epicanthus, ptosis, broad nasal bridge, inverted W-shaped upper lip, everted lower lip, macrostomia, malformed ears), abnormal extremities (camptodactyly, genu recurvatum, interdigital webbing), and ...
Molecular genetics OMIM In 4 patients from 3 unrelated consanguineous families with Van Maldergem syndrome-1 (VMLDS1; 601390), Cappello et al. (2013) identified 3 different homozygous mutations in the DCHS1 gene (603057.0001-603057.0003). The mutations were found by autozygosity mapping combined with targeted ...