ENDOVESLB
MCID: END088
MIFTS: 13

Endove Syndrome, Limb-Brain Type (ENDOVESLB)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Endove Syndrome, Limb-Brain Type

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

Name: Endove Syndrome, Limb-Brain Type 57
Mesomelia of Lower Extremities with Hand, Foot, and Brain Anomalies; Mlehfb 57
Mesomelia of Lower Extremities with Hand, Foot, and Brain Anomalies 57
Endoveslb 57
Mlehfb 57

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 1 patient (last curated march 2021)


Classifications:



External Ids:

OMIM® 57 619218

Summaries for Endove Syndrome, Limb-Brain Type

OMIM® : 57 Limb-brain ENDOVE syndrome (ENDOVESLB) is characterized by marked mesomelic shortening of the lower limbs due to severe hypoplasia of the tibia and fibula. The talus is absent and foot bones are rudimentary. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. In addition, there is cerebellar aplasia with hypoplasia of the brain stem (Allou et al., 2021). (619218) (Updated 05-Mar-2021)

MalaCards based summary : Endove Syndrome, Limb-Brain Type, is also known as mesomelia of lower extremities with hand, foot, and brain anomalies; mlehfb. An important gene associated with Endove Syndrome, Limb-Brain Type is EN1 (Engrailed Homeobox 1). Affiliated tissues include brain and cerebellum.

Related Diseases for Endove Syndrome, Limb-Brain Type

Symptoms & Phenotypes for Endove Syndrome, Limb-Brain Type

Symptoms via clinical synopsis from OMIM®:

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

Skeletal Skull:
microcephaly

Neurologic Central Nervous System:
absent speech
hypoplastic brain stem
no purposeful movements
seizures, tonic focal
severe generalized hypotonia
more
Genitourinary Bladder:
neurogenic bladder

Genitourinary Kidneys:
hydronephrosis, bilateral

Skeletal Limbs:
hypoplastic triangular fibulae, with spurs
globular appendages on lower legs anteriorly, over spurs
hypoplastic triangular tibiae, with spurs

Skeletal:
joint laxity (large joints)

Neurologic Peripheral Nervous System:
hyperactive reflexes

Head And Neck Head:
microcephaly

Growth Height:
short stature

Skeletal Feet:
toe syndactyly
absent talus
rudimentary and short foot bones
dysplastic and abnormally placed toenails

Head And Neck Eyes:
poor visual contact

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
Abdomen Gastrointestinal:
feeding difficulties (gastrostomy tube)

Skeletal Hands:
short malformed fingers
absent digit, bilaterally (likely 3rd digit)
absent nails, digits 2 and 4

Clinical features from OMIM®:

619218 (Updated 05-Mar-2021)

Drugs & Therapeutics for Endove Syndrome, Limb-Brain Type

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

Genetic Tests for Endove Syndrome, Limb-Brain Type

Anatomical Context for Endove Syndrome, Limb-Brain Type

MalaCards organs/tissues related to Endove Syndrome, Limb-Brain Type:

40
Brain, Cerebellum

Publications for Endove Syndrome, Limb-Brain Type

Articles related to Endove Syndrome, Limb-Brain 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-Brain Type

Expression for Endove Syndrome, Limb-Brain Type

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

Pathways for Endove Syndrome, Limb-Brain Type

GO Terms for Endove Syndrome, Limb-Brain Type

Sources for Endove Syndrome, Limb-Brain 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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