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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Wrinkly skin syndrome


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Symptoms

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What are the signs and symptoms of wrinkly skin syndrome?

Common signs and symptoms of wrinkly skin syndrome include sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel (a baby's "soft spot" on the top of his/her head). Additional signs and symptoms that have been described in individual cases, include:[1]

Small head size (microcephaly)
Unusual facial characteristics 
Downslanting eyes
Delayed motor development
Intellectual disability
Joint laxity, subluxation (a tendon slips out of its normal position)
Hernias
Last updated: 10/12/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Wrinkly skin 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)
Cutis laxa 90%
Deep palmar crease 90%
Lack of skin elasticity 90%
Abnormality of adipose tissue 50%
Abnormality of dental morphology 50%
Abnormality of the hip bone 50%
Alopecia 50%
Amyotrophy 50%
Carious teeth 50%
Cognitive impairment 50%
Delayed eruption of teeth 50%
Dry skin 50%
Facial asymmetry 50%
Hernia 50%
Hypertelorism 50%
Intrauterine growth retardation 50%
Joint hypermobility 50%
Kyphosis 50%
Malar flattening 50%
Muscular hypotonia 50%
Prematurely aged appearance 50%
Skin ulcer 50%
Abnormal retinal pigmentation 7.5%
Defect in the atrial septum 7.5%
Myopia 7.5%
Optic atrophy 7.5%
Prominent occiput 7.5%
Seizures 7.5%
Short stature 7.5%
Upslanted palpebral fissure 7.5%
Atrial septal aneurysm -
Autosomal recessive inheritance -
Hypoplasia of the musculature -
Intellectual disability -
Muscular hypotonia -
Neonatal wrinkled skin of hands and feet -
Palmoplantar cutis laxa -
Scapular winging -

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. Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet. 2009 Sep;17(9):1099-110; http://www.nature.com.ezproxy.nihlibrary.nih.gov/ejhg/journal/v17/n9/full/ejhg200922a.html. Accessed 10/12/2011.


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.