Intellectual disability-developmental delay-contractures syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CONTRACTURES OF FEET, MUSCLE ATROPHY, AND OCULOMOTOR APRAXIA
WIEACKER SYNDROME
APRAXIA, OCULOMOTOR, WITH CONGENITAL CONTRACTURES AND MUSCLE ATROPHY
WRWF
Wieacker-Wolff syndrome
Foot contractures - muscle atrophy - oculomotor apraxia
Number of Symptoms 65
OrphanetNr: 3454
OMIM Id: 314580
ICD-10: G71.8
UMLs: C0796200
MeSH: C536703
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: X-linked recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Arthrogryposis multiplex congenita
 -Rare developmental defect during embryogenesis
Genetic skeletal muscle disease
 -Rare genetic disease
 -Rare neurologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000278) Retrognathia 100 / 7739
2
 (HPO:0000470) Short neck 345 / 7739
3
 (HPO:0010628) Facial palsy 146 / 7739
4
 (HPO:0002307) Drooling 43 / 7739
5
 (HPO:0010806) U-Shaped upper lip vermilion 18 / 7739
6
 (HPO:0000343) Long philtrum 262 / 7739
7
 (HPO:0000319) Smooth philtrum 72 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0009890) High anterior hairline 10 / 7739
10
 (HPO:0000218) High palate 356 / 7739
11
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
12
 (HPO:0000187) Broad alveolar ridges 14 / 7739
13
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
14
 (HPO:0000597) Ophthalmoparesis Very frequent [Orphanet] 71 / 7739
15
 (HPO:0000496) Abnormality of eye movement Very frequent [Orphanet] 79 / 7739
16
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
17
 (HPO:0000657) Oculomotor apraxia rare [HPO:skoehler] 54 / 7739
18
 (HPO:0000369) Low-set ears 372 / 7739
19
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
20
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
21
 (HPO:0001250) Seizures 1245 / 7739
22
 (HPO:0001284) Areflexia 198 / 7739
23
 (HPO:0001263) Global developmental delay 853 / 7739
24
 (HPO:0001249) Intellectual disability 1089 / 7739
25
 (HPO:0001256) Intellectual disability, mild 141 / 7739
26
 (HPO:0001332) Dystonia 197 / 7739
27
 (HPO:0000750) Delayed speech and language development 197 / 7739
28
 (HPO:0001257) Spasticity 251 / 7739
29
 (HPO:0002186) Apraxia 22 / 7739
30
 (HPO:0012385) Camptodactyly 113 / 7739
31
 (HPO:0004097) Deviation of finger 13 / 7739
32
 (HPO:0000774) Narrow chest 167 / 7739
33
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
34
 (HPO:0002827) Hip dislocation 94 / 7739
35
 (HPO:0009623) Proximal placement of thumb 50 / 7739
36
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
37
 (HPO:0001371) Flexion contracture 220 / 7739
38
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
39
 (HPO:0009465) Ulnar deviation of finger 48 / 7739
40
 (HPO:0001762) Talipes equinovarus 309 / 7739
41
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
42
 (HPO:0003307) Hyperlordosis 122 / 7739
43
 (HPO:0005745) Congenital foot contractures 1 / 7739
44
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
45
 (HPO:0001558) Decreased fetal movement 74 / 7739
46
 (HPO:0011968) Feeding difficulties 240 / 7739
47
 (HPO:0004322) Short stature 1232 / 7739
48
 (HPO:0002104) Apnea 106 / 7739
49
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
50
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
51
 (HPO:0010547) Muscle flaccidity 466 / 7739
52
 (HPO:0003693) Distal amyotrophy 118 / 7739
53
 (HPO:0001252) Muscular hypotonia 990 / 7739
54
 (HPO:0001324) Muscle weakness 859 / 7739
55
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
56
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
57
 (OMIM) Gyral disorganization 2 / 7739
58
 (OMIM) Fat pads on the hands and feet 1 / 7739
59
 (HPO:0012448) Delayed myelination 51 / 7739
60
 (OMIM) Proximally placed toes 2 / 7739
61
 (OMIM) Upturned nares 4 / 7739
62
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
63
 (HPO:0003577) Congenital onset 133 / 7739
64
 (OMIM) Muscle weakness, severe 3 / 7739
65
 (HPO:0002059) Cerebral atrophy 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Wieacker et al. (1985) described an apparently novel X-linked syndrome in 6 men in 4 sibships of 3 generations of a family, genealogically connected through presumably carrier females. All had congenital contractures of the feet at birth, a ...
Molecular genetics OMIM In affected members of 5 unrelated families with Wieacker-Wolff syndrome, including the families reported by Wieacker et al. (1985) and Hennekam et al. (1991), Hirata et al. (2013) identified 4 different missense mutations in the ZC4H2 gene (300897.0001-300897.0004). ...