ENDOVESL
MCID: END087
MIFTS: 10

Endove Syndrome, Limb-Only Type (ENDOVESL)

Aliases & Classifications for Endove Syndrome, Limb-Only Type

MalaCards integrated aliases for Endove Syndrome, Limb-Only Type:

Name: Endove Syndrome, Limb-Only Type 57
Mesomelia of Lower Extremities with Hand and Foot Anomalies; Mlehf 57
Mesomelia of Lower Extremities with Hand and Foot Anomalies 57
Endovesl 57
Mlehf 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 3 unrelated patients (last curated march 2021)


External Ids:

OMIM® 57 619217

Summaries for Endove Syndrome, Limb-Only Type

OMIM® : 57 Limb-only ENDOVE syndrome (ENDOVESL) is characterized by marked mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. Patients also exhibit abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies have been observed (Allou et al., 2021). (619217) (Updated 05-Apr-2021)

MalaCards based summary : Endove Syndrome, Limb-Only Type, is also known as mesomelia of lower extremities with hand and foot anomalies; mlehf. An important gene associated with Endove Syndrome, Limb-Only Type is ENDOVESL (ENDOVE Syndrome, Limb-Only Type).

Related Diseases for Endove Syndrome, Limb-Only Type

Symptoms & Phenotypes for Endove Syndrome, Limb-Only Type

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen External Features:
umbilical hernia

Genitourinary Ureters:
vesicoureteral reflux

Genitourinary External Genitalia Female:
hypoplastic labia majora

Skin Nails Hair Nails:
dysplastic toenails
volar nails, digits 3, 4, and/or 5
absent nails, index fingers
normally placed nails of thumbs
toenails partially displaced to plantar surface
more
Skeletal Limbs:
hypoplastic rhomboid or triangular tibiae, with spurs
hypoplastic triangular fibulae, with spurs
globular appendages on lower legs anteriorly, over spurs

Growth Height:
short stature

Genitourinary Kidneys:
hydronephrosis

Genitourinary Internal Genitalia Male:
bilateral cryptorchidism

Skeletal Feet:
polydactyly (in 1 patient)
cutaneous syndactyly of all toes
absent or short distal phalanges
absent toes (in 1 patient)

Skeletal Hands:
cutaneous syndactyly, primarily of third interdigital space
osseous syndactyly of digits 3 and 4 (in 1 patient)
limited flexion of fingers
absence of flexion creases (in 1 patient)
pointed distal phalanges (in 1 patient)
more

Clinical features from OMIM®:

619217 (Updated 05-Apr-2021)

Drugs & Therapeutics for Endove Syndrome, Limb-Only Type

Search Clinical Trials , NIH Clinical Center for Endove Syndrome, Limb-Only Type

Genetic Tests for Endove Syndrome, Limb-Only Type

Anatomical Context for Endove Syndrome, Limb-Only Type

Publications for Endove Syndrome, Limb-Only Type

Articles related to Endove Syndrome, Limb-Only Type:

# Title Authors PMID Year
1
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. 57
33568816 2021

Variations for Endove Syndrome, Limb-Only Type

Expression for Endove Syndrome, Limb-Only Type

Search GEO for disease gene expression data for Endove Syndrome, Limb-Only Type.

Pathways for Endove Syndrome, Limb-Only Type

GO Terms for Endove Syndrome, Limb-Only Type

Sources for Endove Syndrome, Limb-Only Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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