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distal arthrogryposis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal arthrogryposis

MONDO:0019942

Also known as:arthrogryposis multiplex congenita distal

Overview

A muscle tissue disease characterized by congenital joint contractures of hand and feet.

OnsetCONGENITAL, NEONATAL, INFANTILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: at birth, newborn period, infancy.

GeneReviews

Clinical Guidance

Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. Phenotypic expression is variable within and between families. At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, prominent anterior crus of the antihelix, and/or mild contractures without impairment. At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Formal diagnostic criteria for congenital contractural arachnodactyly (CCA) have not been established.

Suggestive Findings

Classic CCA should be suspected in individuals with the following:

Arachnodactyly with positive wrist and thumb sign
Flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for distal arthrogryposis. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with congenital contractural arachnodactyly (CCA), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Classic Congenital Contractural Arachnodactyly

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 9. Recommended Surveillance for Individuals with Classic Congenital Contractural Arachnodactyly

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for distal arthrogryposis.

48 publications have been identified in PubMed for distal arthrogryposis. Research spans Case Report / Case Series (40%), Review / Meta-Analysis (13%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Patient case studies	19	40%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:97120

GARD

Genetic and Rare Diseases Info Center

GARD:786

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

GeneReviews

Differential Diagnosis

Disorders with features that overlap with those of congenital contractural arachnodactyly (CCA) are summarized in . Table 4. Disorders to Consider in the Differential Diagnosis of Congenital Contractural Arachnodactyly (CCA)

DifferentialDiagnosisDisorder	Gene	MOI	Clinical Features of Differential Diagnosis Disorder
FBN1	AD	Marfanoid habitus, dolichostenomelia; Arachnodactyly; Pectus deformity, kyphoscoliosis; Muscle hypoplasia; Severe Marfan syndrome1 may be mistaken for severe CCA as both may have crumpled ears, contractures, cardiovascular abnormalities.2	Lens (sub)luxation; High myopia; Progressive aortic root dilatation; Neonates w/severe Marfan syndrome are usually very hypotonic have valvular anomalies ("floppy valves") /or aortic root dilatation, rather than the septal defects or interrupted aortic arch in severe CCA.
TGFBR2	AD	Arachnodactyly; Pectus deformity	Joint laxity; Thin skin; Hypertelorism, bifid uvula, cleft palate; Pectus deformity, scoliosis; (Progressive) aortic root dilatation – patent ductus arteriosus Stickler syndrome
COL11A2	ADAR4	Marfanoid body habitus (in some affected individuals), but usually secondary to a shortened trunk, rather than long-bone overgrowth	Joint laxity; Early-onset rapidly progressive myopia w/ risk of cataract, retinal detachment; Hearing loss (both conductive sensorineural); Midfacial underdevelopment cleft palate; Mild spondyloepiphyseal dysplasia /or precocious arthritis Homocystinuria
CBS	AR	Limited joint mobility; Dolichostenomelia; Arachnodactyly; Kyphoscoliosis	Lens (sub)luxation; Osteoporosis; DD in some; Predisposition to thromboembolism Distal arthrogryposes(DA) (OMIM PS108120)
TPM2	ADAR5	Medially overlapping fingers; Clenched fists; Ulnar deviation of fingers; Camptodactyly; Positional foot deformities; Clubfoot; Scoliosis	Absence of marfanoid habitus, arachnodactyly, contractures of knees elbows, crumpled ears; Additional features depending on DA subtype; Often pursed lips Bethlem myopathy (See Collagen Type VI-Related Disorders OMIM 616471.)
COL12A1	ADAR	Joint contractures; Muscular hypoplasia	Absence of marfanoid habitus, arachnodactyly, crumpled ears Van den Ende - Gupta syndrome (OMIM 600920)
SCARF2	AR	Contractures; Arachnodactyly; Pectus excavatum; Femoral bowing	...

Source: GeneReviews — "Congenital Contractural Arachnodactyly"

System/Concern	Evaluation	Comment
Musculoskeletal	Orthopedics: joint contractures, bowed long bones; kyphoscoliosis	Kyphoscoliosis may be congenital, is progressive, warrants early eval. Assessment by physiatrist, OT/PT of fine motor gross motor skills related to contractures muscular hypotonia
Cardiovascular	Assessment for aortic root dilatation	The risk for aortic root dilatation is low progression uncommon; but assessing aortic root dilatation at an early stage is important for determining frequency of further cardiovascular follow up.
Ophthalmologic	Flat cornea / keratoconus	Low risk
Orthodontic	Highly arched palate, dental crowding	A highly arched palate is also assoc w/ incidence of middle ear infections. Miscellaneous/
Other	Consultation w/clinical geneticist /or genetic counselor	OT = occupational therapy; PT = physical therapy Table 6.
Recommended Evaluations Following Initial Diagnosis in Infants with Severe Congenital Contractural Arachnodactyly System/Concern	Evaluation	Comment
Constitutional	Assess nutritional status, growth.	—
Musculoskeletal	Orthopedics: joint contractures, bowed long bones; kyphoscoliosis	Kyphoscoliosis is congenital, progressive, warrants early eval. Assessment by physiatrist, OT/PT of fine motor gross motor skills related to contractures muscular hypotonia
Cardiovascular	Assess for congenital heart disease.	Commonly atrial or ventricular septal defect, interrupted aortic arch; rarely aortic root dilatation. Valvular insufficiency may occur. Gastrointestinal/
Feeding	Assess for GI malformation: a "double bubble" sign on abdominal ultrasound is indicative of a duodenal atresia/obstruction.	Duodenal or esophageal atresia intestinal malrotation
Respiratory	Assess for respiratory insufficiency.	Most common cause of death, often resulting from tracheomalacia (due to pressure from vascular anomalies) respiratory infections. It is unclear if hypotonia, emphysema, /or left-sided congestive heart failure may contribute to the respiratory problems.
Ophthalmologic	Flat cornea / keratoconus	Low risk Miscellaneous/
Other	Consultation w/clinical geneticist /or genetic counselor	OT = occupational therapy; PT = physical therapy Treatment of Manifestations Table 7.
Treatment of Manifestations in Individuals with Classic Congenital Contractural Arachnodactyly Manifestation/Concern	Treatment	Considerations/Other
Musculoskeletal	By orthopedist	Contractures may require surgical release.; Clubfeet may require casting. By physiatrist, OT/PT
Cardiovascular	By cardiologist/cardiovascular surgeon	Aortic root dilatation is managed in a standard manner. See Marfan Syndrome (full text).
Ophthalmologic	By ophthalmologist	Correction of refractive errors; Keratoconus can be treated by scleral contact lenses. It is currently unknown if corneal crosslinking is safe /or useful in CCA.
Orthodontic	By orthodontist/dentist	Use of palatal expander may be indicated.; Dental crowding may necessitate extraction of molars. OT = occupational therapy; PT = physical therapy Table 8.

Kisho

distal arthrogryposis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

distal arthrogryposis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.