arthrogryposis, distal, type 1A

Summary

arthrogryposis, distal, type 1A (MONDO:0007157) is a disease caused by TPM2 (GenCC Strong), with 8 cohort genes and 5 clinical trials. The dominant Reactome pathway is Striated Muscle Contraction (3 cohort genes).

At a glance

• Causal gene: TPM2 (GenCC Strong)
• Cohort genes: 8
• ClinVar variants: 272
• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	arthrogryposis, distal, type 1A
Mondo ID	MONDO:0007157
OMIM	108120
DOID	DOID:0111597
SNOMED CT	715314008
UMLS	C0220662
MedGen	113099
GARD	0024527
Is cancer (heuristic)	no

Also known as: AMC · arthrogryposis multiplex congenita · arthrogryposis, distal, type 1A · DA1A

Data availability: 272 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › disorder of development or morphogenesis › developmental defect during embryogenesis › multiple congenital anomalies/dysmorphic syndrome › multiple congenital anomalies/dysmorphic syndrome without intellectual disability › digitotalar dysmorphism › arthrogryposis, distal, type 1A

Related subtypes (2): digitotalar dysmorphism; ulnar drift, hereditary, arthrogryposis, distal, type 1B

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

272 retrieved; paginated sample, class counts are floors:

119 likely benign, 89 uncertain significance, 15 conflicting classifications of pathogenicity, 13 benign, 12 likely pathogenic, 10 pathogenic, 8 benign/likely benign, 5 pathogenic/likely pathogenic, 1 pathogenic; risk factor

ClinVar	Variant (HGVS)	Gene	Classification	Review
560980	NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter)	CNTNAP1	Pathogenic	criteria provided, multiple submitters, no conflicts
446117	NM_000245.4(MET):c.3701A>G (p.Tyr1234Cys)	MET	Pathogenic; risk factor	no assertion criteria provided
12460	NM_003289.4(TPM2):c.271C>G (p.Arg91Gly)	TPM2	Pathogenic	no assertion criteria provided
12462	NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)	TPM2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
12463	NM_003289.4(TPM2):c.397C>T (p.Arg133Trp)	TPM2	Pathogenic	criteria provided, multiple submitters, no conflicts
12464	NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)	TPM2	Pathogenic	criteria provided, single submitter
12465	NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)	TPM2	Pathogenic	criteria provided, multiple submitters, no conflicts
140486	NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del)	TPM2	Pathogenic	criteria provided, multiple submitters, no conflicts
140493	NM_003289.4(TPM2):c.628C>T (p.Gln210Ter)	TPM2	Pathogenic	criteria provided, single submitter
1686270	NM_003289.4(TPM2):c.394_396dup (p.Asn132dup)	TPM2	Pathogenic	criteria provided, single submitter
2434210	NM_003289.4(TPM2):c.220del (p.Ala74fs)	TPM2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
450194	NM_003289.4(TPM2):c.70C>T (p.Gln24Ter)	TPM2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
569587	NM_003289.4(TPM2):c.463G>A (p.Ala155Thr)	TPM2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
632042	NM_003289.4(TPM2):c.663T>A (p.Tyr221Ter)	TPM2	Pathogenic	criteria provided, single submitter
816832	NM_003289.4(TPM2):c.620_631dup (p.Gln210_Ala211insValGluAlaGln)	TPM2	Pathogenic	no assertion criteria provided
977300	NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)	TPM2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1067848	NM_003289.4(TPM2):c.364G>A (p.Glu122Lys)	TPM2	Likely pathogenic	criteria provided, single submitter
12466	NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del)	TPM2	Likely pathogenic	criteria provided, single submitter
1468701	NM_003289.4(TPM2):c.493-2A>G	TPM2	Likely pathogenic	criteria provided, single submitter
2017054	NM_003289.4(TPM2):c.479G>T (p.Arg160Leu)	TPM2	Likely pathogenic	criteria provided, single submitter
3667651	NM_003289.4(TPM2):c.640-1G>A	TPM2	Likely pathogenic	criteria provided, single submitter
458722	NM_003289.4(TPM2):c.360TGA[1] (p.Asp121del)	TPM2	Likely pathogenic	criteria provided, single submitter
4734141	NM_003289.4(TPM2):c.563+1G>T	TPM2	Likely pathogenic	criteria provided, single submitter
521421	NM_003289.4(TPM2):c.26A>C (p.Gln9Pro)	TPM2	Likely pathogenic	criteria provided, multiple submitters, no conflicts
577391	NM_003289.4(TPM2):c.382A>G (p.Lys128Glu)	TPM2	Likely pathogenic	criteria provided, multiple submitters, no conflicts
816834	NM_003289.4(TPM2):c.180T>G (p.Tyr60Ter)	TPM2	Likely pathogenic	no assertion criteria provided
848549	NM_003289.4(TPM2):c.41A>T (p.Asp14Val)	TPM2	Likely pathogenic	criteria provided, single submitter
939822	NM_003289.4(TPM2):c.606C>A (p.Asn202Lys)	TPM2	Likely pathogenic	criteria provided, single submitter
1302243	NM_003289.4(TPM2):c.773-9_773-8insCA	TPM2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1494530	NM_003289.4(TPM2):c.773-10_773-9insCG	TPM2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 12 · Orphanet: 20 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
TPM2	Strong	Autosomal dominant	arthrogryposis, distal, type 1A	12

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TPM2	Orphanet:1146	Distal arthrogryposis type 1
TPM2	Orphanet:1147	Sheldon-Hall syndrome
TPM2	Orphanet:171436	Typical nemaline myopathy
TPM2	Orphanet:171439	Childhood-onset nemaline myopathy
TPM2	Orphanet:171881	Cap myopathy
TPM2	Orphanet:2020	Congenital fiber-type disproportion myopathy
MET	Orphanet:319298	Papillary renal cell carcinoma
MET	Orphanet:33402	Pediatric hepatocellular carcinoma
MET	Orphanet:47044	Hereditary papillary renal cell carcinoma
MET	Orphanet:488265	Osteofibrous dysplasia
MET	Orphanet:90636	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
MYH3	Orphanet:1146	Distal arthrogryposis type 1
MYH3	Orphanet:1147	Sheldon-Hall syndrome
MYH3	Orphanet:2053	Freeman-Sheldon syndrome
MYH3	Orphanet:2990	Autosomal recessive multiple pterygium syndrome
MYH3	Orphanet:3275	Spondylocarpotarsal synostosis
MYH3	Orphanet:65743	Autosomal dominant multiple pterygium syndrome
MYH8	Orphanet:319340	Carney complex-trismus-pseudocamptodactyly syndrome
MYH8	Orphanet:3377	Trismus-pseudocamptodactyly syndrome
CNTNAP1	Orphanet:2680	Hypomyelination neuropathy-arthrogryposis syndrome

Cohort genes → proteins

8 cohort genes, 7 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	8

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TPM2	HGNC:12011	ENSG00000198467	P07951	Tropomyosin beta chain	gencc,clinvar
GLIPR2	HGNC:18007	ENSG00000122694	Q9H4G4	Golgi-associated plant pathogenesis-related protein 1	clinvar
FAM219A	HGNC:19920	ENSG00000164970	Q8IW50	Protein FAM219A	clinvar
MYHAS	HGNC:50609	ENSG00000272975		myosin heavy chain gene cluster antisense RNA	clinvar
MET	HGNC:7029	ENSG00000105976	P08581	Hepatocyte growth factor receptor	clinvar
MYH3	HGNC:7573	ENSG00000109063	P11055	Myosin-3	clinvar
MYH8	HGNC:7578	ENSG00000133020	P13535	Myosin-8	clinvar
CNTNAP1	HGNC:8011	ENSG00000108797	P78357	Contactin-associated protein 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TPM2	Tropomyosin beta chain	Binds to actin filaments in muscle and non-muscle cells.
MET	Hepatocyte growth factor receptor	Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand.
MYH3	Myosin-3	Muscle contraction.
MYH8	Myosin-8	Muscle contraction.
CNTNAP1	Contactin-associated protein 1	Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons.

Protein-family classification

Druggable: 1 · Difficult: 2 · Unknown: 5 · Druggable fraction: 0.12

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Scaffold/PPI	2	4.3×	0.223
Kinase	1	3.5×	0.382
Other/Unknown	5	1.1×	0.496

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TPM2	Other/Unknown	no		Tropomyosin
GLIPR2	Other/Unknown	no		CRISP-related, CAP_dom, Allrgn_V5/Tpx1_CS
FAM219A	Other/Unknown	no		FAM219
MYHAS	Other/Unknown	no
MET	Kinase	yes	2.7.10.1	Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Semap_dom
MYH3	Scaffold/PPI	no		Myosin_head_motor_dom-like, Myosin_tail, SH3_Myosin
MYH8	Scaffold/PPI	no		Myosin_head_motor_dom-like, Myosin_tail, SH3_Myosin
CNTNAP1	Other/Unknown	no		FA58C, EGF, Laminin_G

Expression context

Cohort genes with no expression data: 0.

5 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	8
unknown	0

Top tissues across cohort

Tissue	Cohort genes
blood vessel layer	1
popliteal artery	1
saphenous vein	1
granulocyte	1
leukocyte	1
monocyte	1
medulla oblongata	1
superior vestibular nucleus	1
ventricular zone	1
hindlimb stylopod muscle	1
muscle of leg	1
skeletal muscle tissue	1
cartilage tissue	1
germinal epithelium of ovary	1
pigmented layer of retina	1
left testis	1
right testis	1
testis	1
quadriceps femoris	1
skeletal muscle tissue of rectus abdominis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TPM2	283	ubiquitous	marker	saphenous vein, popliteal artery, blood vessel layer
GLIPR2	251	ubiquitous	marker	monocyte, leukocyte, granulocyte
FAM219A	245	ubiquitous	yes	ventricular zone, superior vestibular nucleus, medulla oblongata
MYHAS	65	tissue_specific	yes	skeletal muscle tissue, hindlimb stylopod muscle, muscle of leg
MET	270	ubiquitous	marker	pigmented layer of retina, germinal epithelium of ovary, cartilage tissue
MYH3	203	tissue_specific	yes	left testis, right testis, testis
MYH8	67	tissue_specific	marker	vastus lateralis, quadriceps femoris, skeletal muscle tissue of rectus abdominis
CNTNAP1	209	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MET	5,823
MYH3	1,795
MYH8	1,719
CNTNAP1	1,292
GLIPR2	1,054
FAM219A	411
TPM2	357
MYHAS	0

Intra-cohort edges

A	B	Sources
MYH3	TPM2	biogrid_interaction

Structural data

PDB: 2 · AlphaFold-only: 5 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MET	P08581	130
GLIPR2	Q9H4G4	3

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TPM2	P07951	91.51
CNTNAP1	P78357	81.51
MYH8	P13535	75.13
MYH3	P11055	74.35
FAM219A	Q8IW50	63.93

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 48. Enrichment computed across 8 evidence-associated genes (5 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Striated Muscle Contraction	3	185.2×	1e-05	TPM2, MYH3, MYH8
Drug-mediated inhibition of MET activation	1	1142.0×	0.016	MET
MET activates STAT3	1	761.3×	0.016	MET
MET activates PTPN11	1	456.8×	0.016	MET
MET interacts with TNS proteins	1	456.8×	0.016	MET
MET Receptor Activation	1	380.7×	0.016	MET
MET activates PI3K/AKT signaling	1	380.7×	0.016	MET
Muscle contraction	2	30.9×	0.016	MYH3, MYH8
Sema4D mediated inhibition of cell attachment and migration	1	285.5×	0.016	MET
Neurofascin interactions	1	285.5×	0.016	CNTNAP1
MET receptor recycling	1	228.4×	0.016	MET
MET activates RAS signaling	1	207.6×	0.016	MET
MET activates RAP1 and RAC1	1	207.6×	0.016	MET
Listeria monocytogenes entry into host cells	1	207.6×	0.016	MET
InlB-mediated entry of Listeria monocytogenes into host cell	1	152.3×	0.021	MET
Sema4D in semaphorin signaling	1	134.3×	0.022	MET
MET promotes cell motility	1	120.2×	0.022	MET
MECP2 regulates neuronal receptors and channels	1	120.2×	0.022	MET
Regulation of MITF-M-dependent genes involved in cell cycle and proliferation	1	114.2×	0.022	MET
Negative regulation of MET activity	1	103.8×	0.023	MET
Semaphorin interactions	1	78.8×	0.028	MET
MET activates PTK2 signaling	1	76.1×	0.028	MET
PI3K/AKT Signaling in Cancer	1	73.7×	0.028	MET
Bacterial Infection Pathways	1	67.2×	0.029	MET
Signaling by MET	1	63.4×	0.029	MET
Transcriptional Regulation by MECP2	1	63.4×	0.029	MET
Negative regulation of the PI3K/AKT network	1	55.7×	0.032	MET
Smooth Muscle Contraction	1	53.1×	0.032	TPM2
MITF-M-dependent gene expression	1	36.2×	0.045	MET
MAPK1/MAPK3 signaling	1	26.2×	0.060	MET

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
muscle contraction	3	104.0×	1e-04	TPM2, MYH3, MYH8
muscle filament sliding	2	351.1×	3e-04	MYH3, MYH8
skeletal muscle contraction	2	170.2×	8e-04	MYH3, MYH8
ATP metabolic process	2	156.0×	8e-04	MYH3, MYH8
neuromuscular junction development, skeletal muscle fiber	1	2808.7×	0.003	CNTNAP1
regulation of ATP-dependent activity	1	1404.3×	0.004	TPM2
postsynaptic density organization	1	1404.3×	0.004	CNTNAP1
paranodal junction maintenance	1	1404.3×	0.004	CNTNAP1
protein localization to paranode region of axon	1	702.2×	0.006	CNTNAP1
protein localization to juxtaparanode region of axon	1	702.2×	0.006	CNTNAP1
negative regulation of hydrogen peroxide-mediated programmed cell death	1	702.2×	0.006	MET
paranodal junction assembly	1	468.1×	0.008	CNTNAP1
hepatocyte growth factor receptor signaling pathway	1	351.1×	0.010	MET
neuronal action potential propagation	1	234.1×	0.014	CNTNAP1
endothelial cell morphogenesis	1	175.5×	0.016	MET
neuromuscular process controlling posture	1	175.5×	0.016	CNTNAP1
central nervous system myelination	1	165.2×	0.016	CNTNAP1
positive regulation of endothelial cell chemotaxis	1	165.2×	0.016	MET
regulation of synapse maturation	1	156.0×	0.016	CNTNAP1
myelination in peripheral nervous system	1	147.8×	0.016	CNTNAP1
actin filament-based movement	1	133.8×	0.016	MYH3
positive chemotaxis	1	133.8×	0.016	MET
branching morphogenesis of an epithelial tube	1	122.1×	0.017	MET
pancreas development	1	112.3×	0.017	MET
face morphogenesis	1	82.6×	0.023	MYH3
excitatory postsynaptic potential	1	73.9×	0.024	MET
positive regulation of epithelial cell migration	1	68.5×	0.024	GLIPR2
embryonic limb morphogenesis	1	66.9×	0.024	MYH3
semaphorin-plexin signaling pathway	1	66.9×	0.024	MET
sarcomere organization	1	63.8×	0.024	MYH3

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 7

Druggability breadth: 1 of 8 evidence-associated genes (12%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
MET	AFATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MET	95	4
TPM2	0	0
GLIPR2	0	0
FAM219A	0	0
MYHAS	0	0
MYH3	0	0
MYH8	0	0
CNTNAP1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
AFATINIB	4	MET
FEDRATINIB	4	MET
TIVOZANIB	4	MET
AXITINIB	4	MET
SORAFENIB	4	MET
NERATINIB	4	MET
INFIGRATINIB PHOSPHATE	4	MET
INFIGRATINIB	4	MET
PALBOCICLIB	4	MET
ENTRECTINIB	4	MET
DABRAFENIB	4	MET
CABOZANTINIB S-MALATE	4	MET
AFATINIB DIMALEATE	4	MET
CABOZANTINIB	4	MET
CERITINIB	4	MET
VANDETANIB	4	MET
BOSUTINIB	4	MET
CAPMATINIB	4	MET
TEPOTINIB	4	MET
BRIGATINIB	4	MET
ENSARTINIB	4	MET
PAZOPANIB	4	MET
NINTEDANIB	4	MET
SUNITINIB	4	MET
ERLOTINIB	4	MET
CRIZOTINIB	4	MET
MIDOSTAURIN	4	MET
GEFITINIB	4	MET
LINSITINIB	3	MET
RIGOSERTIB	3	MET

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
MET	2,015	Binding:2005, Functional:6, ADMET:4

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
MET	2.7.10.1	receptor protein-tyrosine kinase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
MET	2,015

Pharmacogenomics

Cohort genes with a PharmGKB record: 7; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
AFATINIB	4	MET
FEDRATINIB	4	MET
TIVOZANIB	4	MET
AXITINIB	4	MET
SORAFENIB	4	MET
NERATINIB	4	MET
INFIGRATINIB PHOSPHATE	4	MET
INFIGRATINIB	4	MET
PALBOCICLIB	4	MET
ENTRECTINIB	4	MET
DABRAFENIB	4	MET
CABOZANTINIB S-MALATE	4	MET
AFATINIB DIMALEATE	4	MET
CABOZANTINIB	4	MET
CERITINIB	4	MET
VANDETANIB	4	MET
BOSUTINIB	4	MET
CAPMATINIB	4	MET
TEPOTINIB	4	MET
BRIGATINIB	4	MET
ENSARTINIB	4	MET
PAZOPANIB	4	MET
NINTEDANIB	4	MET
SUNITINIB	4	MET
ERLOTINIB	4	MET
CRIZOTINIB	4	MET
MIDOSTAURIN	4	MET
GEFITINIB	4	MET
LINSITINIB	3	MET
RIGOSERTIB	3	MET

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	MET
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	7	TPM2, GLIPR2, FAM219A, MYHAS, MYH3, MYH8, CNTNAP1

Undrugged target profiles

7 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
TPM2	0	—
GLIPR2	0	—
FAM219A	0	—
MYHAS	0	—
MYH3	0	—
MYH8	0	—
CNTNAP1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	5

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07360574	Not specified	NOT_YET_RECRUITING	Piezo2-related Arthrogryposis & physiopathOLOgy 3
NCT01144741	Not specified	TERMINATED	Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
NCT05393375	Not specified	COMPLETED	Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
NCT05673265	Not specified	UNKNOWN	Pediatric and Adult Registry for Patients With ARThrogryposis
NCT06130592	Not specified	UNKNOWN	Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound