MCID: VNM002
MIFTS: 23

Van Maldergem Syndrome 2

Categories: Genetic diseases

Aliases & Classifications for Van Maldergem Syndrome 2

MalaCards integrated aliases for Van Maldergem Syndrome 2:

Name: Van Maldergem Syndrome 2 54 24 71 29 69
Vmlds2 24 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
some features may be variable


HPO:

32
van maldergem syndrome 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Van Maldergem Syndrome 2

OMIM : 54
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 (summary by Cappello et al., 2013). For a discussion of genetic heterogeneity of Van Maldergem syndrome, see 601390. (615546)

MalaCards based summary : Van Maldergem Syndrome 2, is also known as vmlds2, and has symptoms including scoliosis, ptosis and micrognathia. An important gene associated with Van Maldergem Syndrome 2 is FAT4 (FAT Atypical Cadherin 4). Affiliated tissues include brain, bone and kidney.

UniProtKB/Swiss-Prot : 71 Van Maldergem syndrome 2: 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.

Related Diseases for Van Maldergem Syndrome 2

Symptoms & Phenotypes for Van Maldergem Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
high-arched palate
tented upper lip
downturned mouth
thick gums

Muscle Soft Tissue:
hypotonia

Head And Neck- Eyes:
ptosis
epicanthal folds
hypertelorism
short palpebral fissures

Head And Neck- Face:
micrognathia
maxillary hypoplasia
flat midface
bitemporal narrowing

Skeletal:
joint laxity
osteopenia
skeletal dysplasia

Growth- Other:
poor growth

Genitourinary- Internal Genitalia Male:
cryptorchidism

Skeletal- Hands:
clinodactyly
syndactyly, cutaneous
hand deformities
short fourth metacarpals
flexion of the pip joints
more
Skeletal- Skull:
wide cranial sutures
thickened skull base
thickened frontal bones

Head And Neck- Teeth:
dental malocclusion
irregular dentition

Head And Neck- Head:
large anterior fontanels

Respiratory- Airways:
tracheomalacia (tracheostomy may be required)

Skeletal- Limbs:
subluxation of the radial heads

Skeletal- Spine:
scoliosis

Neurologic- Central Nervous System:
mental retardation
thin corpus callosum
intellectual disability
periventricular nodular heterotopia
subcortical band heterotopia

Abdomen- Gastroin testinal:
poor feeding
anteriorly positioned anus

Genitourinary- External Genitalia Male:
micropenis
hypospadias
bifid scrotum

Skeletal- Feet:
foot deformities
talipes equinovarus
short fourth metatarsals

Head And Neck- Ears:
hearing loss, sensorineural
hearing loss, conductive
microtia
atresia of the external auditory canals

Genitourinary- Kidneys:
hypoplastic kidneys

Head And Neck- Nose:
broad nasal bridge
thickening of the nasal alae

Chest- External Features:
narrow thorax

Skin Nails & Hair- Skin:
sacral dimple

Respiratory:
respiratory difficulties due to tracheomalacia

Chest- Ribs Sternum Clavicles And Scapulae:
short clavicles


Clinical features from OMIM:

615546

Human phenotypes related to Van Maldergem Syndrome 2:

32 (show all 45)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 ptosis 32 HP:0000508
3 micrognathia 32 HP:0000347
4 micropenis 32 HP:0000054
5 hypertelorism 32 HP:0000316
6 joint laxity 32 HP:0001388
7 hypospadias 32 HP:0000047
8 cryptorchidism 32 HP:0000028
9 talipes equinovarus 32 HP:0001762
10 short 4th metacarpal 32 HP:0010044
11 narrow chest 32 HP:0000774
12 intellectual disability 32 HP:0001249
13 hypoplasia of the corpus callosum 32 HP:0002079
14 clinodactyly 32 HP:0030084
15 wide nasal bridge 32 HP:0000431
16 osteopenia 32 HP:0000938
17 bifid scrotum 32 HP:0000048
18 midface retrusion 32 HP:0011800
19 feeding difficulties 32 HP:0011968
20 wide anterior fontanel 32 HP:0000260
21 renal hypoplasia 32 HP:0000089
22 tracheomalacia 32 HP:0002779
23 narrow forehead 32 HP:0000341
24 wide cranial sutures 32 HP:0010537
25 high palate 32 HP:0000218
26 blepharophimosis 32 HP:0000581
27 epicanthus 32 HP:0000286
28 muscular hypotonia 32 HP:0001252
29 dental malocclusion 32 HP:0000689
30 microtia 32 HP:0008551
31 downturned corners of mouth 32 HP:0002714
32 sensorineural hearing impairment 32 HP:0000407
33 malar flattening 32 HP:0000272
34 skeletal dysplasia 32 HP:0002652
35 sacral dimple 32 HP:0000960
36 irregular dentition 32 HP:0040079
37 short clavicles 32 HP:0000894
38 growth delay 32 HP:0001510
39 short palpebral fissure 32 HP:0012745
40 hypoplasia of the maxilla 32 HP:0000327
41 conductive hearing impairment 32 HP:0000405
42 cutaneous finger syndactyly 32 HP:0010554
43 tented upper lip vermilion 32 HP:0010804
44 atresia of the external auditory canal 32 HP:0000413
45 short fourth metatarsal 32 HP:0004689

UMLS symptoms related to Van Maldergem Syndrome 2:


joint laxity

Drugs & Therapeutics for Van Maldergem Syndrome 2

Search Clinical Trials , NIH Clinical Center for Van Maldergem Syndrome 2

Genetic Tests for Van Maldergem Syndrome 2

Genetic tests related to Van Maldergem Syndrome 2:

id Genetic test Affiliating Genes
1 Van Maldergem Syndrome 2 29 24 FAT4

Anatomical Context for Van Maldergem Syndrome 2

MalaCards organs/tissues related to Van Maldergem Syndrome 2:

39
Brain, Bone, Kidney

Publications for Van Maldergem Syndrome 2

Variations for Van Maldergem Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Van Maldergem Syndrome 2:

71
id Symbol AA change Variation ID SNP ID
1 FAT4 p.Glu2375Lys VAR_070925 rs398122955
2 FAT4 p.Cys4159Phe VAR_070926 rs398122953
3 FAT4 p.Cys4398Tyr VAR_070927 rs398122954

ClinVar genetic disease variations for Van Maldergem Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FAT4 NM_024582.4(FAT4): c.11455C> T (p.Arg3819Ter) single nucleotide variant Pathogenic rs398122957 GRCh37 Chromosome 4, 126373626: 126373626
2 FAT4 NM_024582.4(FAT4): c.12476G> T (p.Cys4159Phe) single nucleotide variant Pathogenic rs398122953 GRCh37 Chromosome 4, 126400898: 126400898
3 FAT4 NM_024582.4(FAT4): c.13193G> A (p.Cys4398Tyr) single nucleotide variant Pathogenic rs398122954 GRCh37 Chromosome 4, 126411170: 126411170
4 FAT4 NM_024582.4(FAT4): c.7123G> A (p.Glu2375Lys) single nucleotide variant Pathogenic rs398122955 GRCh37 Chromosome 4, 126355504: 126355504
5 FAT4 NM_024582.4(FAT4): c.9481G> T (p.Glu3161Ter) single nucleotide variant Pathogenic rs370088878 GRCh37 Chromosome 4, 126371652: 126371652
6 FAT4 NM_024582.4(FAT4): c.14512_14513delTC (p.Ser4838Leufs) deletion Pathogenic rs398122956 GRCh37 Chromosome 4, 126412489: 126412490

Expression for Van Maldergem Syndrome 2

Search GEO for disease gene expression data for Van Maldergem Syndrome 2.

Pathways for Van Maldergem Syndrome 2

GO Terms for Van Maldergem Syndrome 2

Sources for Van Maldergem Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....