RETT SYNDROME, CONGENITAL VARIANT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 40
OrphanetNr:
OMIM Id: 613454
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000253) Progressive microcephaly 37 / 7739
2
(HPO:0002307) Drooling 43 / 7739
3
(HPO:0002353) EEG abnormality 188 / 7739
4
(HPO:0000735) Impaired social interactions 20 / 7739
5
(HPO:0003763) Bruxism 7 / 7739
6
(HPO:0001270) Motor delay 322 / 7739
7
(HPO:0001250) Seizures 1245 / 7739
8
(HPO:0100703) Tongue thrusting 4 / 7739
9
(HPO:0000817) Poor eye contact 26 / 7739
10
(HPO:0010864) Intellectual disability, severe 120 / 7739
11
(HPO:0001332) Dystonia 197 / 7739
12
(HPO:0001257) Spasticity 251 / 7739
13
(HPO:0002072) Chorea 53 / 7739
14
(HPO:0002305) Athetosis 31 / 7739
15
(HPO:0100660) Dyskinesia 19 / 7739
16
(HPO:0002186) Apraxia 22 / 7739
17
(HPO:0002808) Kyphosis 289 / 7739
18
(HPO:0002650) Scoliosis 705 / 7739
19
(HPO:0001763) Pes planus 176 / 7739
20
(HPO:0001762) Talipes equinovarus 309 / 7739
21
(HPO:0002019) Constipation 194 / 7739
22
(HPO:0002020) Gastroesophageal reflux 101 / 7739
23
(HPO:0001319) Neonatal hypotonia 101 / 7739
24
(OMIM) Abnormal breathing pattern 8 / 7739
25
(OMIM) Lack of speech development 20 / 7739
26
(OMIM) Genu valgu 1 / 7739
27
(OMIM) EEG shows with a multifocal pattern with spikes and sharp waves 1 / 7739
28
(OMIM) Jerky limb movements 1 / 7739
29
(OMIM) Reduced white matter volume 3 / 7739
30
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
31
(OMIM) Simplified gyral pattern 11 / 7739
32
(OMIM) Abnormal sleep pattern 2 / 7739
33
(OMIM) Neonatal irritability 1 / 7739
34
(HPO:0009879) Cortical gyral simplification 24 / 7739
35
(OMIM) Slow postnatal growth 1 / 7739
36
(HPO:0012448) Delayed myelination 51 / 7739
37
(OMIM) Neonatal irresponsiveness 1 / 7739
38
(HPO:0001302) Pachygyria 60 / 7739
39
(OMIM) Stereotypic movements 3 / 7739
40
(OMIM) Developmental regression before age 6 months 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; 312750), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by ...
Clinical Description OMIM Ariani et al. (2008) reported 2 unrelated girls, aged 22 years and 7 years, with a congenital variant of Rett syndrome. Both had normal birth, but developed progressive microcephaly at age 3 months. Both showed poor response early ...
Molecular genetics OMIM In 2 unrelated girls with a congenital variant of Rett syndrome, Ariani et al. (2008) identified heterozygous truncating mutations in the FOXG1 gene (164874.0001 and 164874.0002).

Mencarelli et al. (2010) identified 4 different de novo heterozygous ...