MCID: VNM002
MIFTS: 22

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 53 71 28 69
Vmlds2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
some features may be variable


HPO:

31
van maldergem syndrome 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Van Maldergem Syndrome 2

OMIM : 53 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 joint laxity, malar flattening and hypertelorism. An important gene associated with Van Maldergem Syndrome 2 is FAT4 (FAT Atypical Cadherin 4). Affiliated tissues include brain, kidney and bone.

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:

53
Skeletal:
joint laxity
osteopenia
skeletal dysplasia

Skeletal Hands:
clinodactyly
syndactyly, cutaneous
hand deformities
short fourth metacarpals
flexion of the pip joints
more
Skeletal Spine:
scoliosis

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
talipes equinovarus
foot deformities
short fourth metatarsals

Chest RibsSternum Clavicles And Scapulae:
short clavicles

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

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

Abdomen Gastroin testinal:
poor feeding
anteriorly positioned anus

Growth Other:
poor growth

Respiratory:
respiratory difficulties due to tracheomalacia

Skeletal Limbs:
subluxation of the radial heads

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

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

Head And Neck Teeth:
dental malocclusion
irregular dentition

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

Genitourinary External Genitalia Male:
hypospadias
bifid scrotum
micropenis

Skin Nails Hair Skin:
sacral dimple

Skeletal Skull:
wide cranial sutures
thickened skull base
thickened frontal bones

Muscle Soft Tissue:
hypotonia

Genitourinary Kidneys:
hypoplastic kidneys

Chest External Features:
narrow thorax

Head And Neck Head:
large anterior fontanels

Respiratory Airways:
tracheomalacia (tracheostomy may be required)


Clinical features from OMIM:

615546

Human phenotypes related to Van Maldergem Syndrome 2:

31 (show all 45)
# Description HPO Frequency HPO Source Accession
1 joint laxity 31 HP:0001388
2 malar flattening 31 HP:0000272
3 hypertelorism 31 HP:0000316
4 clinodactyly 31 HP:0030084
5 high palate 31 HP:0000218
6 ptosis 31 HP:0000508
7 osteopenia 31 HP:0000938
8 intellectual disability 31 HP:0001249
9 scoliosis 31 HP:0002650
10 dental malocclusion 31 HP:0000689
11 skeletal dysplasia 31 HP:0002652
12 wide nasal bridge 31 HP:0000431
13 microtia 31 HP:0008551
14 sensorineural hearing impairment 31 HP:0000407
15 micrognathia 31 HP:0000347
16 feeding difficulties 31 HP:0011968
17 narrow chest 31 HP:0000774
18 epicanthus 31 HP:0000286
19 cryptorchidism 31 HP:0000028
20 growth delay 31 HP:0001510
21 short 4th metacarpal 31 HP:0010044
22 hypospadias 31 HP:0000047
23 hypoplasia of the maxilla 31 HP:0000327
24 conductive hearing impairment 31 HP:0000405
25 downturned corners of mouth 31 HP:0002714
26 renal hypoplasia 31 HP:0000089
27 talipes equinovarus 31 HP:0001762
28 blepharophimosis 31 HP:0000581
29 sacral dimple 31 HP:0000960
30 midface retrusion 31 HP:0011800
31 wide anterior fontanel 31 HP:0000260
32 tracheomalacia 31 HP:0002779
33 cutaneous finger syndactyly 31 HP:0010554
34 tented upper lip vermilion 31 HP:0010804
35 bifid scrotum 31 HP:0000048
36 atresia of the external auditory canal 31 HP:0000413
37 hypoplasia of the corpus callosum 31 HP:0002079
38 micropenis 31 HP:0000054
39 short clavicles 31 HP:0000894
40 short palpebral fissure 31 HP:0012745
41 generalized hypotonia 31 HP:0001290
42 narrow forehead 31 HP:0000341
43 short fourth metatarsal 31 HP:0004689
44 wide cranial sutures 31 HP:0010537
45 irregular dentition 31 HP:0040079

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:

# Genetic test Affiliating Genes
1 Van Maldergem Syndrome 2 28 FAT4

Anatomical Context for Van Maldergem Syndrome 2

MalaCards organs/tissues related to Van Maldergem Syndrome 2:

38
Brain, Kidney, Bone

Publications for Van Maldergem Syndrome 2

Variations for Van Maldergem Syndrome 2

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 FAT4 NM_024582.4(FAT4): c.12476G> T (p.Cys4159Phe) single nucleotide variant Pathogenic rs398122953 GRCh37 Chromosome 4, 126400898: 126400898
2 FAT4 NM_024582.4(FAT4): c.13193G> A (p.Cys4398Tyr) single nucleotide variant Pathogenic rs398122954 GRCh37 Chromosome 4, 126411170: 126411170
3 FAT4 NM_024582.4(FAT4): c.7123G> A (p.Glu2375Lys) single nucleotide variant Pathogenic rs398122955 GRCh37 Chromosome 4, 126355504: 126355504
4 FAT4 NM_024582.4(FAT4): c.9481G> T (p.Glu3161Ter) single nucleotide variant Pathogenic rs370088878 GRCh37 Chromosome 4, 126371652: 126371652
5 FAT4 NM_024582.4(FAT4): c.14512_14513delTC (p.Ser4838Leufs) deletion Pathogenic rs398122956 GRCh37 Chromosome 4, 126412489: 126412490
6 FAT4 NM_024582.4(FAT4): c.11455C> T (p.Arg3819Ter) single nucleotide variant Pathogenic rs398122957 GRCh37 Chromosome 4, 126373626: 126373626

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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