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Diseases

Genetic and Rare Diseases Information Center (GARD)

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17q23.1q23.2 microdeletion syndrome


Other Names for this Disease

  • 17q23.1-q23.2 microdeletion syndrome
  • Chromosome 17q23.1-q23.2 deletion syndrome
  • Del(17)(q23.1q23.2)
  • Monosomy 17q23.1-q23.2
  • Monosomy 17q23.1q23.2
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Symptoms

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What are the signs and symptoms of 17q23.1q23.2 microdeletion syndrome?

17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities.[1][2] All individuals reported to date have had mild to moderate developmental delay, in particular delays in speech. Most have had heart defects, including patent ductus arteriosus or atrial septal defects. Limb abnormalities include long, thin fingers and toes, and hypoplasia (underdevelopment) of the patellae (knee caps). Scoliosis may also be present. Many patients have also had mild and unspecific unusual facial features.[1]
Last updated: 1/3/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for 17q23.1q23.2 microdeletion 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)
Arachnodactyly 90%
Cognitive impairment 90%
Long toe 90%
Frontal bossing 50%
Intrauterine growth retardation 50%
Neurological speech impairment 50%
Patent ductus arteriosus 50%
Pulmonary hypertension 50%
Short stature 50%
Abnormality of the epiphyses 7.5%
Abnormality of the eyelashes 7.5%
Abnormality of the hip bone 7.5%
Abnormality of the teeth 7.5%
Behavioral abnormality 7.5%
Blepharitis 7.5%
Camptodactyly of toe 7.5%
Clinodactyly of the 5th finger 7.5%
Defect in the atrial septum 7.5%
Depressed nasal bridge 7.5%
Epicanthus 7.5%
Hearing impairment 7.5%
Highly arched eyebrow 7.5%
Hyperreflexia 7.5%
Hypertelorism 7.5%
Limitation of joint mobility 7.5%
Low-set, posteriorly rotated ears 7.5%
Malar flattening 7.5%
Midline defect of the nose 7.5%
Muscular hypotonia 7.5%
Narrow mouth 7.5%
Otitis media 7.5%
Patellar aplasia 7.5%
Pes planus 7.5%
Respiratory insufficiency 7.5%
Sacral dimple 7.5%
Sandal gap 7.5%
Scoliosis 7.5%
Shawl scrotum 7.5%
Single transverse palmar crease 7.5%
Strabismus 7.5%
Abnormal facial shape -
Aggressive behavior -
Bicuspid aortic valve -
Intellectual disability, mild -
Long fingers -
Postnatal growth retardation -
Slender finger -
Small for gestational age -
Sporadic -

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. Morichon-Delvallez N. 17q23.1q23.2 microdeletion syndrome. Orphanet. 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261279. Accessed 1/2/2013.
  2. Ballif et al. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet. 2010 Mar 12;86(3):454-61. .


Other Names for this Disease
  • 17q23.1-q23.2 microdeletion syndrome
  • Chromosome 17q23.1-q23.2 deletion syndrome
  • Del(17)(q23.1q23.2)
  • Monosomy 17q23.1-q23.2
  • Monosomy 17q23.1q23.2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.