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Lethal congenital contracture syndrome 11(LCCS11)

MedGen UID:
934637
•Concept ID:
C4310670
•
Disease or Syndrome
Synonym: LCCS11
 
Gene (location): GLDN (15q21.2)
 
Monarch Initiative: MONDO:0014965
OMIM®: 617194

Definition

Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene. [from MONDO]

Clinical features

From HPO
Retrognathia
MedGen UID:
19766
•Concept ID:
C0035353
•
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
See: Feature record | Search on this feature
Pulmonary hypoplasia
MedGen UID:
78574
•Concept ID:
C0265783
•
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
See: Feature record | Search on this feature
Polyhydramnios
MedGen UID:
6936
•Concept ID:
C0020224
•
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
See: Feature record | Search on this feature
Decreased fetal movement
MedGen UID:
68618
•Concept ID:
C0235659
•
Finding
An abnormal reduction in quantity or strength of fetal movements.
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R
Hum Mutat 2017 Nov;38(11):1477-1484. Epub 2017 Aug 17 doi: 10.1002/humu.23297. PMID: 28726266Free PMC Article

Prognosis

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R
Hum Mutat 2017 Nov;38(11):1477-1484. Epub 2017 Aug 17 doi: 10.1002/humu.23297. PMID: 28726266Free PMC Article

Supplemental Content

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    Clinical resources

    Reviews

    Related information

    • ClinVar
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      Related information in NCBI Gene
    • GTR
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    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
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