WRWFFR
MCID: WCK004
MIFTS: 17

Wieacker-Wolff Syndrome, Female-Restricted (WRWFFR)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Wieacker-Wolff Syndrome, Female-Restricted

MalaCards integrated aliases for Wieacker-Wolff Syndrome, Female-Restricted:

Name: Wieacker-Wolff Syndrome, Female-Restricted 56 6
Wrwffr 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in utero
most mutations occur de novo
female-restricted


Classifications:



External Ids:

OMIM 56 301041
OMIM Phenotypic Series 56 PS314580

Summaries for Wieacker-Wolff Syndrome, Female-Restricted

OMIM : 56 Female-restricted Wieacker-Wolff syndrome (WRWFFR) is an X-linked dominant syndromic form of neurogenic arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement. Affected individuals have decreased fetal movements causing the development of contractures in utero and resulting in AMC and diffuse contractures involving the large and small joints apparent at birth. There is global developmental delay with difficulty walking or inability to walk, hypotonia that often evolves to spasticity, and variably impaired intellectual development with poor or absent speech and language. Dysmorphic facial features, including hypotonic facies, ptosis, microretrognathia, and small mouth, are seen in most patients. Seizures are uncommon; some patients have evidence of a peripheral motor neuropathy with distal muscle weakness. The level of X inactivation in lymphocytes and fibroblasts is often skewed, but may not predict the severity of the phenotype. Most cases occur sporadically; rare X-linked dominant inheritance has been reported in families (summary by Frints et al., 2019). (301041)

MalaCards based summary : Wieacker-Wolff Syndrome, Female-Restricted, is also known as wrwffr. An important gene associated with Wieacker-Wolff Syndrome, Female-Restricted is ZC4H2 (Zinc Finger C4H2-Type Containing). Affiliated tissues include eye and brain.

Related Diseases for Wieacker-Wolff Syndrome, Female-Restricted

Symptoms & Phenotypes for Wieacker-Wolff Syndrome, Female-Restricted

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
spasticity
absent speech
hyperreflexia
dysarthria
more
Skeletal Spine:
scoliosis
kyphosis

Growth Height:
short stature

Abdomen Gastrointestinal:
dysphagia
feeding difficulties
oromotor dysfunction

Head And Neck Mouth:
cleft palate
small mouth
downturned corners of the mouth
carp-shaped mouth

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Pelvis:
hip dislocation

Skeletal Hands:
camptodactyly
ulnar deviation
clenched hands
metacarpophalangeal joint contractures
overlapping digits
more
Chest Breasts:
widely spaced nipples

Chest External Features:
narrow thorax

Growth Other:
poor overall growth

Muscle Soft Tissue:
neurogenic muscle weakness and atrophy

Laboratory Abnormalities:
skewed x-inactivation may be observed in lymphocytes or fibroblasts

Head And Neck Neck:
short neck

Head And Neck Nose:
anteverted nares

Head And Neck Head:
brachycephaly
microcephaly (in some patients)

Head And Neck Eyes:
strabismus
ptosis
oculomotor apraxia
hypermetropia
duane anomaly
more
Head And Neck Face:
retrognathia
micrognathia
facial palsy
long philtrum
high forehead
more
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal:
arthrogryposis multiplex congenita
contractures, diffuse, severe
large and small joints are affected

Genitourinary Bladder:
urinary incontinence
neurogenic bladder

Skeletal Limbs:
joint contractures

Skeletal Feet:
club feet
rocker bottom feet

Prenatal Manifestations Movement:
decreased fetal movements
fetal akinesia

Neurologic Peripheral Nervous System:
motor neuropathy (in some patients)

Clinical features from OMIM:

301041

Drugs & Therapeutics for Wieacker-Wolff Syndrome, Female-Restricted

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

Genetic Tests for Wieacker-Wolff Syndrome, Female-Restricted

Anatomical Context for Wieacker-Wolff Syndrome, Female-Restricted

MalaCards organs/tissues related to Wieacker-Wolff Syndrome, Female-Restricted:

40
Eye, Brain

Publications for Wieacker-Wolff Syndrome, Female-Restricted

Articles related to Wieacker-Wolff Syndrome, Female-Restricted:

# Title Authors PMID Year
1
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. 6 56
31206972 2019

Variations for Wieacker-Wolff Syndrome, Female-Restricted

ClinVar genetic disease variations for Wieacker-Wolff Syndrome, Female-Restricted:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZC4H2 NM_018684.4(ZC4H2):c.225+2T>CSNV Pathogenic 834094 X:64141695-64141695 X:64921815-64921815
2 ZC4H2 NM_018684.3:c.274delAGdeletion Pathogenic 834096
3 ZC4H2 ZC4H2, 195-KB DELdeletion Pathogenic 834098
4 ZC4H2 NM_018684.4(ZC4H2):c.426G>A (p.Trp142Ter)SNV Pathogenic 834099 X:64139057-64139057 X:64919177-64919177
5 ZC4H2 NM_018684.4(ZC4H2):c.67C>T (p.Gln23Ter)SNV Pathogenic 834100 X:64141855-64141855 X:64921975-64921975
6 ZC4H2 NM_018684.4(ZC4H2):c.617G>T (p.Cys206Phe)SNV Likely pathogenic 422398 rs1064795753 X:64137721-64137721 X:64917841-64917841

Expression for Wieacker-Wolff Syndrome, Female-Restricted

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

Pathways for Wieacker-Wolff Syndrome, Female-Restricted

GO Terms for Wieacker-Wolff Syndrome, Female-Restricted

Sources for Wieacker-Wolff Syndrome, Female-Restricted

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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