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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Adducted thumb and clubfoot syndrome


Other Names for this Disease

  • Adducted thumb clubfoot syndrome
  • Autosomal recessive adducted thumb-club foot syndrome
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Symptoms

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What are the symptoms of adducted thumb and clubfoot syndrome?

Adducted thumb-clubfoot syndrome is characterized by typical facial appearance, slight build, thin and translucent skin, severely adducted thumbs, arachnodactyly, clubfeet, joint instability, facial clefting, and coagulopathy, as well as heart, kidney, or intestinal defects.[1] Severe psychomotor and developmental delay and decreased muscle tone may also be present during infancy.[2] Cognitive development during childhood is normal.[3] 
Last updated: 1/30/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Adducted thumb and clubfoot 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 fontanelles or cranial sutures 90%
Adducted thumb 90%
Arachnodactyly 90%
Cognitive impairment 90%
Cryptorchidism 90%
Downturned corners of mouth 90%
Low-set, posteriorly rotated ears 90%
Talipes 90%
Abnormal localization of kidney 7.5%
Abnormality of the aorta 7.5%
Defect in the atrial septum 7.5%
Ventricular septal defect 7.5%
Intellectual disability 5%
Abnormality of the anterior chamber -
Abnormality of the duodenum -
Adducted thumb -
Arachnodactyly -
Autosomal recessive inheritance -
Blue sclerae -
Brachycephaly -
Broad forehead -
Bruising susceptibility -
Cleft palate -
Constipation -
Defect in the atrial septum -
Delayed cranial suture closure -
Diastasis recti -
Distal arthrogryposis -
Downslanted palpebral fissures -
Facial asymmetry -
Flat forehead -
Fragile skin -
Generalized joint laxity -
Glaucoma -
Hearing impairment -
Hiatus hernia -
High palate -
Hydronephrosis -
Hyperextensible skin -
Hypertelorism -
Intestinal malrotation -
Joint dislocation -
Joint laxity -
Large fontanelles -
Long philtrum -
Microcornea -
Microretrognathia -
Motor delay -
Myopia -
Narrow mouth -
Nephrotic syndrome -
Pectus excavatum -
Pneumothorax -
Posteriorly rotated ears -
Protruding ear -
Recurrent skin infections -
Retinal detachment -
Scarring -
Scoliosis -
Strabismus -
Talipes equinovarus -
Telecanthus -
Umbilical hernia -
Ventriculomegaly -

Last updated: 11/3/2014

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. Dundar M, et al.. Am J Hum Genet. 2009; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790573/?tool=pubmed. Accessed 1/30/2011.
  2. Robert-Gnansia E. Adducted thumbs-arthrogryposis, Dundar type. Orphanet. 2003; http://www.orphanet.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2953. Accessed 1/30/2011.
  3. Zhang L, Müller T, Baenziger JU, Janecke AR. Prog Mol Biol Transl Sci. 2010; http://www.ncbi.nlm.nih.gov/pubmed/20807649. Accessed 1/30/2011.


Other Names for this Disease
  • Adducted thumb clubfoot syndrome
  • Autosomal recessive adducted thumb-club foot 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.