MCID: WCK001
MIFTS: 33

Wieacker-Wolff Syndrome

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Wieacker-Wolff Syndrome

MalaCards integrated aliases for Wieacker-Wolff Syndrome:

Name: Wieacker-Wolff Syndrome 53 55 13 69
Wieacker Syndrome 53 72 71 28
Miles-Carpenter X-Linked Mental Retardation Syndrome 53 71 69
Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches 53 71
Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia 53 71
Mental Retardation, X-Linked, Syndromic 4 53 71
Mrxs4 53 71
Wrwf 53 71
Mcs 53 71
Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy 53
Oculomotor Apraxia with Congenital Contractures and Muscle Atrophy 71
Intellectual Disability-Developmental Delay-Contractures Syndrome 55
Foot Contractures-Muscle Atrophy-Oculomotor Apraxia Syndrome 55
Miles-Carpenter X-Linked Mental Retardation Syndrome; Mcs 53
X-Linked Intellectual Disability, Miles-Carpenter Type 55
Mental Retardation, X-Linked, Syndromic 4; Mrxs4 53
Wieacker-Wolf Syndrome 71

Characteristics:

Orphanet epidemiological data:

55
intellectual disability-developmental delay-contractures syndrome
Inheritance: Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;
x-linked intellectual disability, miles-carpenter type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Miscellaneous:
onset in utero
carrier females may show mild features, such as mild contractures, club feet, and intellectual disability

Inheritance:
x-linked recessive


HPO:

31
wieacker-wolff syndrome:
Onset and clinical course congenital onset
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



Summaries for Wieacker-Wolff Syndrome

OMIM : 53 Wieacker-Wolff syndrome is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder (summary by Hirata et al., 2013). (314580)

MalaCards based summary : Wieacker-Wolff Syndrome, also known as wieacker syndrome, is related to intellectual disability-developmental delay-contractures syndrome and miles-carpenter syndrome, and has symptoms including ptosis, scoliosis and kyphosis. An important gene associated with Wieacker-Wolff Syndrome is ZC4H2 (Zinc Finger C4H2-Type Containing). Affiliated tissues include skin, eye and skeletal muscle.

UniProtKB/Swiss-Prot : 71 Wieacker-Wolf syndrome: A severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder.

Wikipedia : 72 Wieacker Syndrome or Wieacker-Wolff syndrome is a rare, severely disabling, genetic disorder. It is an... more...

Related Diseases for Wieacker-Wolff Syndrome

Diseases related to Wieacker-Wolff Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 intellectual disability-developmental delay-contractures syndrome 11.8
2 miles-carpenter syndrome 11.6
3 cleft palate, isolated 10.2

Symptoms & Phenotypes for Wieacker-Wolff Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
dystonia
spasticity
cerebral atrophy
delayed myelination
more
Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
kyphosis
lordosis

Growth Height:
short stature

Head And Neck Mouth:
broad alveolar ridges
drooling
high-arched palate
carp-shaped mouth

Skeletal Pelvis:
hip dislocation

Skin Nails Hair Hair:
high anterior hairline

Skin Nails Hair Skin:
palmar hyperkeratosis
low fingerprint arches

Abdomen Gastroin testinal:
poor feeding

Skeletal Feet:
club feet
equinovarus
proximally placed toes

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Ears:
low-set ears

Head And Neck Eyes:
ptosis
exotropia
upslanting palpebral fissures
oculomotor apraxia (in some patients)

Head And Neck Head:
microcephaly

Head And Neck Face:
long philtrum
micrognathia
retrognathia
flat philtrum
facial weakness

Respiratory:
apnea
neonatal respiratory distress

Neurologic Peripheral Nervous System:
areflexia

Skeletal Hands:
camptodactyly
proximally placed thumbs
ulnar deviation of the fingers

Chest External Features:
narrow shoulders
narrow thorax

Skeletal:
joint contractures
arthrogryposis, congenital

Head And Neck Nose:
upturned nares

Muscle Soft Tissue:
muscle weakness, severe
fat pads on the hands and feet


Clinical features from OMIM:

314580

Human phenotypes related to Wieacker-Wolff Syndrome:

55 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 55 31 Occasional (29-5%) HP:0000508
2 scoliosis 55 31 Occasional (29-5%) HP:0002650
3 kyphosis 55 31 Occasional (29-5%) HP:0002808
4 global developmental delay 55 31 Very frequent (99-80%) HP:0001263
5 intellectual disability, mild 55 31 Very frequent (99-80%) HP:0001256
6 oculomotor apraxia 55 31 occasional (7.5%) Very frequent (99-80%) HP:0000657
7 exotropia 55 31 Very frequent (99-80%) HP:0000577
8 distal amyotrophy 55 31 Very frequent (99-80%) HP:0003693
9 congenital foot contractures 55 31 Very frequent (99-80%) HP:0005745
10 seizures 31 HP:0001250
11 dystonia 31 HP:0001332
12 low-set ears 31 HP:0000369
13 short neck 31 HP:0000470
14 high palate 31 HP:0000218
15 abnormality of eye movement 55 Very frequent (99-80%)
16 intellectual disability 31 HP:0001249
17 spasticity 31 HP:0001257
18 neurological speech impairment 55 Very frequent (99-80%)
19 hyperlordosis 31 HP:0003307
20 facial palsy 31 HP:0010628
21 delayed speech and language development 31 HP:0000750
22 microcephaly 31 HP:0000252
23 smooth philtrum 31 HP:0000319
24 anteverted nares 31 HP:0000463
25 short stature 31 HP:0004322
26 intellectual disability, severe 55 Frequent (79-30%)
27 abnormality of movement 55 Very frequent (99-80%)
28 skeletal muscle atrophy 55 Frequent (79-30%)
29 long philtrum 31 HP:0000343
30 micrognathia 31 HP:0000347
31 feeding difficulties 31 HP:0011968
32 retrognathia 31 HP:0000278
33 strabismus 55 Occasional (29-5%)
34 narrow chest 31 HP:0000774
35 joint hyperflexibility 55 Frequent (79-30%)
36 broad alveolar ridges 31 HP:0000187
37 limitation of joint mobility 55 Very frequent (99-80%)
38 abnormal dermatoglyphics 55 Very frequent (99-80%)
39 apnea 31 HP:0002104
40 arthrogryposis multiplex congenita 31 HP:0002804
41 hypogonadism 55 Frequent (79-30%)
42 hip dislocation 31 HP:0002827
43 clinodactyly of the 5th finger 55 Very frequent (99-80%)
44 apraxia 31 HP:0002186
45 upslanted palpebral fissure 31 HP:0000582
46 talipes equinovarus 31 HP:0001762
47 areflexia 31 HP:0001284
48 decreased fetal movement 31 HP:0001558
49 facial asymmetry 55 Frequent (79-30%)
50 microcornea 55 Frequent (79-30%)

UMLS symptoms related to Wieacker-Wolff Syndrome:


facial paresis, seizures, ophthalmoplegia, muscle spasticity, apnea

Drugs & Therapeutics for Wieacker-Wolff Syndrome

Search Clinical Trials , NIH Clinical Center for Wieacker-Wolff Syndrome

Genetic Tests for Wieacker-Wolff Syndrome

Genetic tests related to Wieacker-Wolff Syndrome:

# Genetic test Affiliating Genes
1 Wieacker Syndrome 28

Anatomical Context for Wieacker-Wolff Syndrome

MalaCards organs/tissues related to Wieacker-Wolff Syndrome:

38
Skin, Eye, Skeletal Muscle

Publications for Wieacker-Wolff Syndrome

Articles related to Wieacker-Wolff Syndrome:

# Title Authors Year
1
Wieacker-Wolff syndrome with associated cleft palate in a female case. ( 29150902 )
2018
2
Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome. ( 9272167 )
1997
3
Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq. ( 2890303 )
1987

Variations for Wieacker-Wolff Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Wieacker-Wolff Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 ZC4H2 p.Val63Leu VAR_069621 rs398122938
2 ZC4H2 p.Arg198Gln VAR_069622 rs879255235
3 ZC4H2 p.Pro201Ser VAR_069623 rs398122939
4 ZC4H2 p.Arg213Trp VAR_069624 rs879255236
5 ZC4H2 p.Arg18Lys VAR_079397
6 ZC4H2 p.Leu66His VAR_079398

ClinVar genetic disease variations for Wieacker-Wolff Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZC4H2 NM_018684.3(ZC4H2): c.187G> C (p.Val63Leu) single nucleotide variant Pathogenic rs398122938 GRCh37 Chromosome X, 64141735: 64141735
2 ZC4H2 NM_018684.3(ZC4H2): c.593G> A (p.Arg198Gln) single nucleotide variant Pathogenic rs879255235 GRCh38 Chromosome X, 64917865: 64917865
3 ZC4H2 NM_018684.3(ZC4H2): c.601C> T (p.Pro201Ser) single nucleotide variant Pathogenic rs398122939 GRCh37 Chromosome X, 64137737: 64137737
4 ZC4H2 NM_018684.3(ZC4H2): c.637C> T (p.Arg213Trp) single nucleotide variant Pathogenic rs879255236 GRCh37 Chromosome X, 64137701: 64137701
5 ZC4H2 NM_018684.3(ZC4H2): c.197T> A (p.Leu66His) single nucleotide variant Pathogenic rs1057520297 GRCh38 Chromosome X, 64921845: 64921845
6 ZC4H2 NM_018684.3(ZC4H2): c.225+5G> A single nucleotide variant Pathogenic rs1057520298 GRCh37 Chromosome X, 64141692: 64141692
7 ZC4H2 NM_018684.3(ZC4H2): c.53G> A (p.Arg18Lys) single nucleotide variant Pathogenic rs1057520299 GRCh38 Chromosome X, 64976325: 64976325

Expression for Wieacker-Wolff Syndrome

Search GEO for disease gene expression data for Wieacker-Wolff Syndrome.

Pathways for Wieacker-Wolff Syndrome

GO Terms for Wieacker-Wolff Syndrome

Sources for Wieacker-Wolff Syndrome

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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