Congenital intrauterine infection-like syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BLCPMG
Microcephaly - intracranial calcification - intellectual deficit
Baraitser-Reardon syndrome
Baraitser-Brett-Piesowicz syndrome
pseudo-torch syndrome
Number of Symptoms 50
OrphanetNr: 1229
OMIM Id: 251290
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic neurological disease
 -Rare genetic disease
Rare neurologic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency rare [HPO:skoehler] 232 / 7739
2
 (HPO:0000340) Sloping forehead 86 / 7739
3
 (HPO:0011451) Congenital microcephaly 6 / 7739
4
 (HPO:0000463) Anteverted nares 305 / 7739
5
 (HPO:0000218) High palate 356 / 7739
6
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
7
 (HPO:0000343) Long philtrum 262 / 7739
8
 (HPO:0000308) Microretrognathia 78 / 7739
9
 (HPO:0007957) Corneal opacity 84 / 7739
10
 (HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
11
 (HPO:0000639) Nystagmus 555 / 7739
12
 (HPO:0010697) Anterior pyramidal cataract 22 / 7739
13
 (HPO:0007759) Opacification of the corneal stroma rare [HPO:skoehler] 77 / 7739
14
 (HPO:0000369) Low-set ears 372 / 7739
15
 (HPO:0002922) Increased CSF protein 27 / 7739
16
 (HPO:0002187) Intellectual disability, profound 44 / 7739
17
 (HPO:0001263) Global developmental delay 853 / 7739
18
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
19
 (HPO:0001257) Spasticity 251 / 7739
20
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
21
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
22
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
23
 (HPO:0002514) Cerebral calcification Very frequent [Orphanet] 89 / 7739
24
 (HPO:0000952) Jaundice 105 / 7739
25
 (HPO:0001410) Decreased liver function 59 / 7739
26
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
27
 (HPO:0001744) Splenomegaly 337 / 7739
28
 (HPO:0002240) Hepatomegaly 467 / 7739
29
 (HPO:0001508) Failure to thrive 454 / 7739
30
 (HPO:0000967) Petechiae 26 / 7739
31
 (HPO:0001873) Thrombocytopenia 224 / 7739
32
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
33
 (OMIM) Calcification in the pons and cerebellum 1 / 7739
34
 (OMIM) Refractory seizures 15 / 7739
35
 (HPO:0002126) Polymicrogyria 64 / 7739
36
 (OMIM) Apneic spells 3 / 7739
37
 (OMIM) Small echogenic kidneys 2 / 7739
38
 (HPO:0003812) Phenotypic variability 129 / 7739
39
 (OMIM) Developmental delay, profound 6 / 7739
40
 (OMIM) No evidence of intrauterine infection in mother or newborn 1 / 7739
41
 (OMIM) Hypogenesis of the corpus callosum 1 / 7739
42
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
43
 (HPO:0002119) Ventriculomegaly 253 / 7739
44
 (HPO:0001302) Pachygyria 60 / 7739
45
 (HPO:0001339) Lissencephaly 30 / 7739
46
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
47
 (OMIM) Intracranial calcifications, band-like, particularly periventricular and in the basal ganglia and thalamus 1 / 7739
48
 (OMIM) Cortical calcifications (in some patients) 1 / 7739
49
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
50
 (OMIM) Bitemporal grooving 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Band-like calcification with simplified gyration and polymicrogyria (BLCPMG) is an autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. The disorder has sometimes been referred ...
Clinical Description OMIM Ishitsu et al. (1985) described 2 brothers, aged 49 and 17 months, with microcephaly, severe mental retardation, quadriplegia, and calcification of the cerebral white matter. Congenital toxoplasmosis was excluded by the negative serology in the mother and sons, ...
Molecular genetics OMIM In 9 individuals from 6 families with autosomal recessive band-like calcification with simplified gyration and polymicrogyria (BLCPMG), O'Driscoll et al. (2010) identified homozygous or compound heterozygous mutations in the OCLN gene (see, e.g., 602876.0001-602876.0004). Several of the patients ...