MCID: CRB163
MIFTS: 21

Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome

Categories: Fetal diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Cerebellar Vermis Aplasia with Associated Features Suggesting...

MalaCards integrated aliases for Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome:

Name: Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 57
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome 58
Thompson-Baraitser Syndrome 58
Thompson Baraitser Syndrome 71

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome: Infancy,Neonatal 58

Age Of Death:

Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome: early childhood 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Orphanet: 58 Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.

MalaCards based summary: Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome, is also known as hepatic fibrosis-renal cysts-intellectual disability syndrome. Affiliated tissues include liver, kidney and eye, and related phenotypes are intellectual disability and ptosis

More information from OMIM: 213010

Related Diseases for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Symptoms & Phenotypes for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Human phenotypes related to Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome:

58 30 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 ptosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000508
3 congenital hepatic fibrosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002612
4 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000639
5 respiratory insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0002093
6 short nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0003196
7 anteverted nares 58 30 Frequent (33%) Frequent (79-30%)
HP:0000463
8 visual impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000505
9 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
10 hypertonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001276
11 abnormality of movement 58 30 Frequent (33%) Frequent (79-30%)
HP:0100022
12 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
13 biparietal narrowing 58 30 Frequent (33%) Frequent (79-30%)
HP:0004422
14 hearing abnormality 58 30 Frequent (33%) Frequent (79-30%)
HP:0000364
15 abnormal dermatoglyphics 58 30 Frequent (33%) Frequent (79-30%)
HP:0007477
16 meningocele 58 30 Frequent (33%) Frequent (79-30%)
HP:0002435
17 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0004209
18 low-set, posteriorly rotated ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000368
19 chorioretinal coloboma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000567
20 protruding ear 58 30 Frequent (33%) Frequent (79-30%)
HP:0000411
21 ventriculomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002119
22 blepharophimosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000581
23 glossoptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000162
24 multicystic kidney dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000003
25 underdeveloped nasal alae 58 30 Frequent (33%) Frequent (79-30%)
HP:0000430
26 seizure 30 Frequent (33%) HP:0001250
27 seizures 58 Frequent (79-30%)
28 abnormality of the eye 58 Frequent (79-30%)
29 abnormality of vision 58 Frequent (79-30%)
30 abnormality of the urinary system 30 HP:0000079
31 occipital encephalocele 30 HP:0002085
32 renal cyst 58 Frequent (79-30%)
33 agenesis of cerebellar vermis 30 HP:0002335
34 postaxial polydactyly 30 HP:0100259
35 periportal fibrosis 30 HP:0001405

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Liver:
periportal fibrosis
bile duct accentuation

Limbs:
postaxial hexadactyly

Neuro:
cerebellar vermis aplasia
occipital meningoencephalocele

Renal:
immature glomeruli
dilated collecting ducts

Clinical features from OMIM®:

213010 (Updated 24-Oct-2022)

Drugs & Therapeutics for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Search Clinical Trials, NIH Clinical Center for Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome

Genetic Tests for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Anatomical Context for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Organs/tissues related to Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome:

MalaCards : Liver, Kidney, Eye

Publications for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Articles related to Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome:

# Title Authors PMID Year
1
Nosology of Smith-Lemli-Opitz syndrome. 57
3322012 1987
2
A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects. 57
3812585 1987
3
An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts. 57
3085498 1986
4
Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome. 57
6859094 1983
5
Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings. 57
4430157 1974

Variations for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Expression for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Search GEO for disease gene expression data for Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome.

Pathways for Cerebellar Vermis Aplasia with Associated Features Suggesting...

GO Terms for Cerebellar Vermis Aplasia with Associated Features Suggesting...

Sources for Cerebellar Vermis Aplasia with Associated Features Suggesting...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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