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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Trismus-pseudocamptodactyly syndrome


Other Names for this Disease

  • Arthrogryposis distal type 7
  • Distal arthrogryposis type 7
  • Dutch-Kentucky syndrome
  • Hecht syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of trismus-pseudocamptodactyly syndrome?

While the symptoms of trismus-pseudocamptodactyly syndrome vary from patient to patient, characteristic symptoms include the inability to open the mouth wide (e.g., less than 6 mm, just under 1/4th of an inch) and shortened muscles, including of the hamstrings and calf muscles. As a result of shortened muscles some infants with trismus-pseudocamptodactyly syndrome have closed or clinched fists, club foot, metatarsus adductus, and calcaneovalgus (where the foot bends sharply at the ankle) at birth.[1][2] Children with this syndrome may crawl on their knuckles.[2] In adulthood the syndrome may cause reduced hand dexterity,[1] however hand limitation does not often interfere with normal function.[2] The most serious complications of the condition occur as a result of the limited mobility of the mouth, including impairment of adequate calorie intake, speech development, dental care, and difficulty with intubation.[2]
Last updated: 4/13/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Trismus-pseudocamptodactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the musculature 90%
Limitation of joint mobility 90%
Short stature 90%
Symphalangism affecting the phalanges of the hand 90%
Abnormality of the hip bone 7.5%
Mandibular prognathia 7.5%
Ptosis 7.5%
Deep philtrum 5%
Macrocephaly 5%
Autosomal dominant inheritance -
Cutaneous syndactyly of toes -
Dysphagia -
Facial asymmetry -
Feeding difficulties -
Hammertoe -
Hip dislocation -
Micrognathia -
Talipes equinovarus -
Trismus -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Carlos R, Contreras E, Cabrera J. Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review. Oral Dis. 2005 May;
  2. Lefaivre JF, Aitchison MJ. Surgical correction of trismus in a child with Hecht syndrome. Ann Plast Surg. 2003 Mar;


Other Names for this Disease
  • Arthrogryposis distal type 7
  • Distal arthrogryposis type 7
  • Dutch-Kentucky syndrome
  • Hecht syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.