MCID: BNL004
MIFTS: 7

Benallegue Lacete Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Benallegue Lacete Syndrome

MalaCards integrated aliases for Benallegue Lacete Syndrome:

Name: Benallegue Lacete Syndrome 52
Cloverleaf Skull-Asphyxiating Thoracic Dysplasia Syndrome 58
Cloverleaf Skull and Asphyxiating Thoracic Dysplasia 52
Benallegue-Lacete Syndrome 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.5
Orphanet 58 ORPHA100978

Summaries for Benallegue Lacete 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: 100978 Definition A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. Visit the Orphanet disease page for more resources.

MalaCards based summary : Benallegue Lacete Syndrome, is also known as cloverleaf skull-asphyxiating thoracic dysplasia syndrome. Affiliated tissues include bone.

Related Diseases for Benallegue Lacete Syndrome

Symptoms & Phenotypes for Benallegue Lacete Syndrome

Drugs & Therapeutics for Benallegue Lacete Syndrome

Search Clinical Trials , NIH Clinical Center for Benallegue Lacete Syndrome

Genetic Tests for Benallegue Lacete Syndrome

Anatomical Context for Benallegue Lacete Syndrome

MalaCards organs/tissues related to Benallegue Lacete Syndrome:

40
Bone

Publications for Benallegue Lacete Syndrome

Variations for Benallegue Lacete Syndrome

Expression for Benallegue Lacete Syndrome

Search GEO for disease gene expression data for Benallegue Lacete Syndrome.

Pathways for Benallegue Lacete Syndrome

GO Terms for Benallegue Lacete Syndrome

Sources for Benallegue Lacete 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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