Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 46
OrphanetNr: 1970
OMIM Id: 220219
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with a Dandy-Walker malformation as major feature
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with a Dandy-Walker malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000046) Scrotal hypoplasia Occasional [Orphanet] 54 / 7739
3
 (HPO:0001305) Dandy-Walker malformation Very frequent [Orphanet] 79 / 7739
4
 (HPO:0100037) Abnormality of the scalp hair Very frequent [Orphanet] 6 / 7739
5
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
6
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
7
 (HPO:0000930) Elevated imprint of the transverse sinuses 3 / 7739
8
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
9
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
10
 (HPO:0000931) Thinning and bulging of the posterior fossa bones 3 / 7739
11
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
12
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
13
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
14
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
15
 (HPO:0000933) Posterior fossa cyst at the fourth ventricle 3 / 7739
16
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
17
 (HPO:0000664) Synophrys Very frequent [Orphanet] 112 / 7739
18
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
19
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
20
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
21
 (HPO:0011039) Abnormality of the helix Very frequent [Orphanet] 33 / 7739
22
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
23
 (HPO:0006824) Cranial nerve paralysis 81 / 7739
24
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
25
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
26
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
27
 (HPO:0010864) Intellectual disability, severe 120 / 7739
28
 (HPO:0002078) Truncal ataxia 41 / 7739
29
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
30
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
31
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
32
 (HPO:0001821) Broad nail 5 / 7739
33
 (HPO:0001799) Short nail 12 / 7739
34
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
35
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
36
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
37
 (HPO:0000238) Hydrocephalus 278 / 7739
38
 (OMIM) Short and broad fingernails 1 / 7739
39
 (OMIM) Extreme myopia 1 / 7739
40
 (HPO:0002335) Agenesis of cerebellar vermis 25 / 7739
41
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
42
 (OMIM) Bulging occiput 2 / 7739
43
 (OMIM) Brachytelephalangy 3 / 7739
44
 (OMIM) Partial or complete absence of cerebellar vermis 2 / 7739
45
 (HPO:0002951) Partial absence of cerebellar vermis 3 / 7739
46
 (HPO:0002198) Dilated fourth ventricle 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: