LCCS10
MCID: LTH042
MIFTS: 25

Lethal Congenital Contracture Syndrome 10 (LCCS10)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Lethal Congenital Contracture Syndrome 10

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 10:

Name: Lethal Congenital Contracture Syndrome 10 57 73
Nek9-Related Lethal Skeletal Dysplasia 58 28 5
Lccs10 57 73
Lethal Skeletal Dysplasia-Fetal Akinesia-Contractures-Thoracic Dysplasia-Pulmonary Hypoplasia Syndrome 58

Characteristics:


Inheritance:

Lethal Congenital Contracture Syndrome 10: Autosomal recessive 57
Nek9-Related Lethal Skeletal Dysplasia: Autosomal recessive 58

Prevelance:

Nek9-Related Lethal Skeletal Dysplasia: <1/1000000 (Worldwide) 58

Age Of Onset:

Nek9-Related Lethal Skeletal Dysplasia: Antenatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of 5 patients from 2 likely related irish traveler families (last curated july 2016)


Classifications:

Orphanet: 58  
Rare respiratory diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Lethal Congenital Contracture Syndrome 10

UniProtKB/Swiss-Prot: 73 A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.

MalaCards based summary: Lethal Congenital Contracture Syndrome 10, is also known as nek9-related lethal skeletal dysplasia. An important gene associated with Lethal Congenital Contracture Syndrome 10 is NEK9 (NIMA Related Kinase 9). Affiliated tissues include bone, skeletal muscle and thymus, and related phenotypes are high palate and short neck

Orphanet: 58 NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.

More information from OMIM: 617022 PS253310

Related Diseases for Lethal Congenital Contracture Syndrome 10

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 10

Human phenotypes related to Lethal Congenital Contracture Syndrome 10:

30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 30 HP:0000218
2 short neck 30 HP:0000470
3 narrow palate 30 HP:0000189
4 cardiomegaly 30 HP:0001640
5 broad ribs 30 HP:0000885
6 hydrops fetalis 30 HP:0001789
7 intrauterine growth retardation 30 HP:0001511
8 micrognathia 30 HP:0000347
9 talipes equinovarus 30 HP:0001762
10 fetal akinesia sequence 30 HP:0001989
11 long philtrum 30 HP:0000343
12 hypoplasia of the thymus 30 HP:0000778
13 ventricular septal defect 30 HP:0001629
14 adducted thumb 30 HP:0001181
15 overriding aorta 30 HP:0002623
16 narrow chest 30 HP:0000774
17 omphalocele 30 HP:0001539
18 oligohydramnios 30 HP:0001562
19 overlapping fingers 30 HP:0010557
20 pulmonary hypoplasia 30 HP:0002089
21 torticollis 30 HP:0000473
22 thoracic scoliosis 30 HP:0002943
23 stiff neck 30 HP:0025258

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Neck:
short neck
stiff neck
small thymus
reduced flexion of neck
torticollis, right

Growth Other:
intrauterine growth retardation

Skeletal Feet:
talipes equinovarus

Skeletal Spine:
thoracic scoliosis

Prenatal Manifestations Movement:
fetal akinesia

Abdomen External Features:
omphalocele (in 1 patient)
protruding abdomen (in 1 patient)

Chest External Features:
narrow chest and thorax

Chest Diaphragm:
intact diaphragm but bulging upwards (in 1 patient)

Muscle Soft Tissue:
variation in fiber size with some very small fibers (in 1 patient)
changes compatible with central denervation (in 1 patient)

Prenatal Manifestations Amniotic Fluid:
oligohydramnios (in 1 patient)

Head And Neck Mouth:
narrow palate
high-arched palate

Head And Neck Face:
micrognathia
long philtrum

Skeletal Hands:
overlapping fingers
adducted thumbs
lateral deviation of fingers

Respiratory Lung:
hypoplastic lungs

Cardiovascular Heart:
ventricular septal defect (in 1 patient)
double outlet ventricles (in 1 patient)
overriding aorta (in 1 patient)
enlarged heart (in 1 patient)

Abdomen Spleen:
small spleen

Chest Ribs Sternum Clavicles And Scapulae:
short broad ribs
narrow rib cage

Skeletal Limbs:
multiple contractures
shortening of upper and lower limbs
bowed short femurs (in 1 family)

Prenatal Manifestations:
hydrops fetalis (in 1 patient)

Clinical features from OMIM®:

617022 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 10

Search Clinical Trials, NIH Clinical Center for Lethal Congenital Contracture Syndrome 10

Genetic Tests for Lethal Congenital Contracture Syndrome 10

Genetic tests related to Lethal Congenital Contracture Syndrome 10:

# Genetic test Affiliating Genes
1 Nek9-Related Lethal Skeletal Dysplasia 28 NEK9

Anatomical Context for Lethal Congenital Contracture Syndrome 10

Organs/tissues related to Lethal Congenital Contracture Syndrome 10:

MalaCards : Bone, Skeletal Muscle, Thymus, Spleen, Heart, Lung
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Lethal Congenital Contracture Syndrome 10

Articles related to Lethal Congenital Contracture Syndrome 10:

# Title Authors PMID Year
1
Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. 57 5
26908619 2016

Variations for Lethal Congenital Contracture Syndrome 10

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 10:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEK9 NM_033116.6(NEK9):c.1489C>T (p.Arg497Ter) SNV Pathogenic
242929 rs757011098 GRCh37: 14:75573244-75573244
GRCh38: 14:75106541-75106541
2 NEK9 NM_033116.6(NEK9):c.190G>A (p.Gly64Arg) SNV Uncertain Significance
830039 rs1484479258 GRCh37: 14:75593435-75593435
GRCh38: 14:75126732-75126732
3 NEK9 NM_033116.6(NEK9):c.1126G>A (p.Ala376Thr) SNV Likely Benign
982714 rs370474070 GRCh37: 14:75576444-75576444
GRCh38: 14:75109741-75109741
4 NEK9 NM_033116.6(NEK9):c.324C>T (p.His108=) SNV Benign
1181094 GRCh37: 14:75590822-75590822
GRCh38: 14:75124119-75124119
5 NEK9 NM_033116.6(NEK9):c.300T>A (p.Ile100=) SNV Benign
1253709 GRCh37: 14:75590846-75590846
GRCh38: 14:75124143-75124143
6 NEK9 NM_033116.6(NEK9):c.*13G>A SNV Benign
1325899 GRCh37: 14:75551254-75551254
GRCh38: 14:75084551-75084551

Expression for Lethal Congenital Contracture Syndrome 10

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 10.

Pathways for Lethal Congenital Contracture Syndrome 10

GO Terms for Lethal Congenital Contracture Syndrome 10

Sources for Lethal Congenital Contracture Syndrome 10

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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