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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Meier-Gorlin syndrome


Other Names for this Disease

  • Ear, patella, short stature syndrome
  • Microtia, absent patellae, micrognathia 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 Meier-Gorlin syndrome?

Most people with Meier-Gorlin syndrome have all three characteristic features of this condition, including small ears, absent or underdeveloped kneecaps (patellae), and short stature.[1] Additional features may include small head size, low-set ears, small mouth, full lips, cleft palate, small chin, and abnormalities of the genitalia or urinary tract. Affected individuals may experience feeding and breathing problems in early infancy.[1] The OMIM database provides a full list of the signs and symptoms of Meier-Gorlin syndrome.
Last updated: 5/14/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Meier-Gorlin 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 epiphyses 90%
Atresia of the external auditory canal 90%
Cryptorchidism 90%
Delayed skeletal maturation 90%
Intrauterine growth retardation 90%
Joint hypermobility 90%
Microcephaly 90%
Micrognathia 90%
Narrow mouth 90%
Short stature 90%
Slender long bone 90%
Abnormality of the clavicles 50%
Abnormality of the ribs 50%
Camptodactyly of finger 50%
Clinodactyly of the 5th finger 50%
Craniosynostosis 50%
Female pseudohermaphroditism 50%
Low-set, posteriorly rotated ears 50%
Patellar aplasia 50%
Respiratory insufficiency 50%
Breast aplasia 7.5%
Cleft palate 7.5%
Cognitive impairment 7.5%
Displacement of the external urethral meatus 7.5%
Elbow dislocation 7.5%
Hearing impairment 7.5%
Hypoplasia of penis 7.5%
Thick lower lip vermilion 7.5%
Abnormality of pelvic girdle bone morphology -
Absent glenoid fossa -
Absent sternal ossification -
Aplasia/Hypoplasia of the patella -
Atresia of the external auditory canal -
Autosomal recessive inheritance -
Birth length less than 3rd percentile -
Blepharophimosis -
Breast hypoplasia -
Breech presentation -
Camptodactyly -
Cleft palate -
Clinodactyly of the 5th finger -
Clitoromegaly -
Cryptorchidism -
Cutaneous finger syndactyly -
Delayed skeletal maturation -
Elbow dislocation -
Failure to thrive -
Feeding difficulties in infancy -
Flat glenoid fossa -
Frontal bossing -
Gastroesophageal reflux -
Genu valgum -
Genu varum -
Hearing impairment -
Hemivertebrae -
Heterogeneous -
High palate -
Hooked clavicles -
Hyperconvex nail -
Hypoplasia of the maxilla -
Hypoplastic labia majora -
Hypoplastic labia minora -
Incomplete partition of the cochlea type II -
Intellectual disability -
Intrauterine growth retardation -
Joint contracture of the hand -
Joint laxity -
Long eyelashes -
Low-set ears -
Microcephaly -
Microdontia -
Micrognathia -
Micropenis -
Microtia -
Narrow mouth -
Pectus carinatum -
Respiratory distress -
Shawl scrotum -
Short palm -
Short palpebral fissure -
Short ribs -
Slender long bone -
Small anterior fontanelle -
Small for gestational age -
Small hand -
Strabismus -
Talipes equinovarus -
Thick lower lip vermilion -
Thin ribs -
Thin 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. Bongers EM et al. Meier-Gorlin syndrome: report of eight additional cases and review. American Journal of Medical Genetics. 2001; 102:115-124. http://www.ncbi.nlm.nih.gov/pubmed/11477602. Accessed 5/14/2012.


Other Names for this Disease
  • Ear, patella, short stature syndrome
  • Microtia, absent patellae, micrognathia 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.