U.S. flag

An official website of the United States government

GTR Home > Tests > TOR1A

Indication

This is a clinical test intended for Help: Screening

Clinical summary

Help

Imported from OMIM

Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disorder characterized by severe joint contractures apparent at birth. Affected individuals usually have hypertonia and abnormal movements suggestive of dystonia, as well as feeding and/or breathing difficulties. More variable features may include poor overall growth, strabismus, dysmorphic facies, and global developmental delay with impaired speech (summary by Kariminejad et al., 2017).

Clinical features

Help

Imported from Human Phenotype Ontology (HPO)

  • Ptosis
  • Clubfoot
  • Dystonic disorder
  • Fetal growth restriction
  • Cardiac arrest
  • Inguinal hernia
  • Umbilical hernia
  • Hip dislocation
  • Polyhydramnios
  • Micrognathia
  • Intellectual disability, moderate
  • Hypertonia
  • Scoliosis
  • Intellectual disability, severe
  • Premature skin wrinkling
  • Strabismus
  • Normocytic anemia
  • Akinesia
  • Macrotia
  • Poikilocytosis
  • Decreased fetal movement
  • Round face
  • Hand clenching
  • Hand tremor
  • Congenital vertical talus
  • Flexion contracture
  • Medullary nephrocalcinosis
  • Elbow flexion contracture
  • Upslanted palpebral fissure
  • Thumbs, congenital Clasped
  • Delayed speech and language development
  • Growth delay
  • Short neck
  • Optic disc pallor
  • Global developmental delay
  • Kyphoscoliosis
  • Camptodactyly
  • Acanthocytosis
  • Hammertoe
  • Pes valgus
  • 11 pairs of ribs
  • Anteverted nares
  • Prominent antihelix
  • Wide nasal bridge
  • Prominent occiput
  • Absent speech
  • Generalized hypotonia
  • Long philtrum
  • Prominent nasolabial fold
  • Restrictive ventilatory defect
  • Limitation of knee mobility
  • Gastrostomy tube feeding in infancy
  • Neonatal respiratory distress
  • Microcephaly
  • Arthrogryposis multiplex congenita
Show all

Conditions tested

Target population

Help

Not provided

Clinical validity

Help

Not provided

Clinical utility

Help

Not provided

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.