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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Acromicric dysplasia


Other Names for this Disease

  • Acromicric skeletal dysplasia
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Symptoms

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What are the signs and symptoms of acromicric dysplasia?

Acromicric dysplasia usually first becomes apparent during late infancy. It is mainly characterized by abnormally short hands and feet, short stature, and mild facial abnormalities. Certain bones in the hands, fingers, feet and toes are abnormally short and stubby (brachydactyly). The long bones of the arms and legs may also be abnormally short. In some cases, individuals may have a malformation of the thigh bone (femur). Most affected individuals described in the medical literature have reached an average adult height of about four feet.[1] Characteristic facial features that have been reported include a round face; narrow palpebral fissures; well-defined eyebrows; long eyelashes; a bulbous nose with anteverted nostrils; a long and prominent philtrum; and thick lips with a small mouth.[2] As affected individuals age, the distinctive facial characteristics typically become less obvious.[1] Other features that occasionally occur in affected individuals include well-developed muscles; a hoarse voice; frequent ear, tracheal, and respiratory infections; and spine abnormalities.[2] Life expectancy is normal.[2]
Last updated: 1/30/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Acromicric dysplasia. 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 eye 90%
Anteverted nares 90%
Brachydactyly syndrome 90%
Long philtrum 90%
Round face 90%
Short nose 90%
Short palm 90%
Decreased nerve conduction velocity 50%
Narrow mouth 50%
Thick lower lip vermilion 50%
Abnormality of the femur 7.5%
Delayed skeletal maturation 7.5%
Limitation of joint mobility 7.5%
Autosomal dominant inheritance -
Bulbous nose -
Cone-shaped epiphysis -
Deep philtrum -
Fifth metacarpal with ulnar notch -
Hoarse voice -
Long eyelashes -
Ovoid vertebral bodies -
Severe short stature -
Short foot -
Short long bones -
Short metacarpal -
Short phalanx of finger -
Thickened skin -

Last updated: 9/2/2014

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. Acromicric Dysplasia. NORD. August 8, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1078/viewAbstract. Accessed 1/30/2012.
  2. L. Faivre-Olivier. Acromicric dysplasia. Orphanet. May 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=969. Accessed 1/25/2012.


Other Names for this Disease
  • Acromicric skeletal dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.