Ear-patella-short stature syndrome (EPS), also known as Meier-Gorlin syndrome, is a rare genetic disorder characterized by small ears (microtia), absent or small knee caps (patellae), and short stature. Additional findings may include various skeletal abnormalities, early feeding difficulties, and poor weight gain. In addition, characteristic features of the head and face may be present including a small mouth (microstomia), with full lips, small circumference of the head (microcephaly), and/or underdevelopment (hypoplasia) of the upper (maxillary) and/or lower (mandibular) jaw bones (micrognathia). EPS is thought to be inherited as an autosomal recessive genetic disorder.
The typical clinical characteristics of EPS noted above, small ears, kneecap abnormalities and short stature may be apparent at birth (congenital). The physical characteristics and symptoms of EPS vary from case to case; affected children will not have all the symptoms listed below.
Infants with EPS exhibit abnormally underdeveloped (hypoplastic) or absent outer ears (microtia) and external ear canals (acoustic meatus). Furthermore, the ears may be low set and/or malformed (dysplastic).
Affected infants may also have various skeletal malformations. As mentioned earlier, the most distinctive of these may be the absent or small knee caps (patellae). Other skeletal malformations may include unusually slender ribs and long bones (e.g., the bones of the arms and legs), missing or deformed ribs, dislocation of the elbows, hook-shaped collar bones (clavicles), and/or an abnormal flattening of the end portion (or head) of the long bones (epiphyses). In some cases an absent or abnormally shallow depression on the upper arm bone (humerus) where the bone meets the shoulder (abnormal glenoid fossa), detachment of cartilage and bone tissue from the surface of a bone (osteochondritis dissecans), abnormally extended joints (hyperextensibility), abnormally stiff joints that may lock in position (joint contractures), and/or degeneration of the rounded projections on the sides of the head of the thigh bone (aseptic necrosis of the lateral femoral condyles) have been found.
In most cases of EPS, abnormally slow growth may have occurred during fetal development (prenatal growth retardation). As a result, most affected infants exhibit low birth weights, have feeding difficulties, and fail to thrive leading to unusually slow physical development (postnatal growth retardation and delayed bone age), potentially resulting in short stature. Other physical characteristics may include a slight build and/or a narrow torso.
In addition to the typical facial features already noted, some individuals present with a triangular face, and/or a highly arched roof of the mouth (palate) and/or premature closure of the fibrous joints (sutures) between the bones of an infant’s skull (craniosynostosis) as well as the soft, membrane-covered space near an infant’s forehead where two of the sutures meet (anterior fontanelle). The anterior fontanelle usually closes at about 18 months of age. Addition features include an abnormally small jaw (micrognathia), small mouth, droopy eyelids (ptosis), and microcephaly, a condition in which the head circumference is smaller than would be expected for age and sex.
Some individuals with EPS show abnormalities of the hands and feet. The fifth finger may be abnormally bent (clinodactyly), and/or one or more fingers may be permanently flexed (camptodactyly).
Most individuals with EPS have normal intelligence. The acquisition of skills requiring mental and motor coordination (psychomotor development) is normal or borderline normal. Some affected children show delays in attaining developmental milestones.
Some boys with EPS may experience failure of the testes to descend into the scrotum (cryptorchidism) or abnormal placement of the urinary opening on the underside of the penis (hypospadias). Some girls with EPS may have underdeveloped (hypoplastic) breasts after reaching puberty.
EPS is thought to be inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother.
Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.
Parents of two affected individuals reported in the medical literature were closely related by blood (consanguineous). If both parents carry the same disease gene, there is a higher than normal risk that their children may inherit the two genes believed to be necessary for the development of the disease.
Since EPS was first described in 1959 only about thirty-five cases have been reported in the medical literature (June, 2005). Researchers believe the disorder is under-diagnosed making it difficult to determine its true frequency in the general population. EPS is believed to affect males and females in equal numbers.
EPS may be diagnosed at birth, based on detailed medical history, physical examination, and other testing modalities, including ultrasonography of the kneecaps.
The association of microtia and very small or absent kneecaps is essential for the clinical diagnosis of EPS. Characteristic abnormalities of the ears (microtia) are present at birth. Further bone development and subsequent abnormalities (e.g., craniosynostosis) may be diagnosed through careful examination of the entire bone system (skeletal survey) using ultrasonography or x-ray methods.
The treatment of EPS is directed towards specific symptoms or complaints. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, specialists who assess and treat hearing problems (audiologists), those who specialize in diagnosing and treating skeletal abnormalities (orthopedists), and other health care professionals may be needed to systematically and comprehensively plan an affected child's treatment.
For example, maxillofacial surgery may be used to correct malformation of the jaw after jaw growth is complete.
In addition, pediatricians may closely monitor an affected child's feeding, growth patterns, and respiratory problems since poor weight gain and recurrent respiratory tract infections are the most serious complications of EPS during early infancy and childhood. Early intervention is important in ensuring that children with EPS reach their potential. Services that may be beneficial may include special remedial education, physical therapy, and other medical, social, and/or vocational services.
Genetic counseling will be of benefit for affected individuals, their siblings and parents.
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McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:224690; Last Update: 6/27/02. Available at: www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?224690