MCID: BMR004
MIFTS: 19

Beemer Lethal Malformation Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Beemer Lethal Malformation Syndrome

MalaCards integrated aliases for Beemer Lethal Malformation Syndrome:

Name: Beemer Lethal Malformation Syndrome 56 52
Beemer Ertbruggen Syndrome 52 71
Peculiar Facial Appearance, Hydrocephalus, Double-Outlet Right Ventricle, Genital Anomalies and Dense Bones with Lethal Outcome 52
Lethal Hydrocephalus-Cardiac Malformation-Dense Bones Syndrome 58
Hydrocephalus, Cardiac Malformation, Dense Bones, Etc. 56
Hydrocephalus, Cardiac Malformation, Dense Bones, Etc 52
Beemer-Ertbruggen Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
beemer-ertbruggen syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
beemer lethal malformation syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 209970
MESH via Orphanet 44 C537668
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1859526
Orphanet 58 ORPHA1237
MedGen 41 C1859526
UMLS 71 C1859526

Summaries for Beemer Lethal Malformation Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1237 Definition Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus , cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984. Visit the Orphanet disease page for more resources.

MalaCards based summary : Beemer Lethal Malformation Syndrome, also known as beemer ertbruggen syndrome, is related to hydrocephalus and double outlet right ventricle. Affiliated tissues include bone and heart, and related phenotypes are respiratory insufficiency and wide nasal bridge

More information from OMIM: 209970

Related Diseases for Beemer Lethal Malformation Syndrome

Diseases related to Beemer Lethal Malformation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hydrocephalus 10.6
2 double outlet right ventricle 10.6

Symptoms & Phenotypes for Beemer Lethal Malformation Syndrome

Human phenotypes related to Beemer Lethal Malformation Syndrome:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
2 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
3 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 deep philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002002
6 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
7 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
8 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
9 abnormality of cardiovascular system morphology 31 hallmark (90%) HP:0030680
10 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
11 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
12 ambiguous genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000062
13 communicating hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0001334
14 hydrocephalus 31 HP:0000238
15 malformation of the heart and great vessels 58 Very frequent (99-80%)
16 abnormality of the skeletal system 31 HP:0000924

Symptoms via clinical synopsis from OMIM:

56
Neuro:
hydrocephalus

Nose:
broad nasal bridge
bulbous

Skeletal:
dense bones

Heme:
thrombocytopenia

Cardiovascular:
cardiac malformation

G U:
ambiguous external genitalia

Clinical features from OMIM:

209970

Drugs & Therapeutics for Beemer Lethal Malformation Syndrome

Search Clinical Trials , NIH Clinical Center for Beemer Lethal Malformation Syndrome

Genetic Tests for Beemer Lethal Malformation Syndrome

Anatomical Context for Beemer Lethal Malformation Syndrome

MalaCards organs/tissues related to Beemer Lethal Malformation Syndrome:

40
Bone, Heart

Publications for Beemer Lethal Malformation Syndrome

Articles related to Beemer Lethal Malformation Syndrome:

# Title Authors PMID Year
1
Peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome. 56 61
6507485 1984

Variations for Beemer Lethal Malformation Syndrome

Expression for Beemer Lethal Malformation Syndrome

Search GEO for disease gene expression data for Beemer Lethal Malformation Syndrome.

Pathways for Beemer Lethal Malformation Syndrome

GO Terms for Beemer Lethal Malformation Syndrome

Sources for Beemer Lethal Malformation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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