Also known as ear, patella-short stature syndrome, it presents the small ears (microtia), absent or small knee caps (patellae) and short stature. [mybiosource.com]

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We have described two females with EPS syndrome in which both breast hypoplasia and disproportionate short stature were present. These features may be associated with the EPS syndrome. [jmg.bmj.com]

If patellar anomalies are present, and microtia and short stature are absent, nail patella syndrome should be considered. [ncbi.nlm.nih.gov]

• Short Stature

  Name Ear-Patella-Short Stature Syndrome Synonyms - Classification bone, developmental, genetic, neurological Phenotypes Abnormality of epiphysis morphology ; Abnormality of the ribs ; Anotia ; Aplastic clavicle ; Atresia of the external auditory canal [mousephenotype.org]

  Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype? J Med Genet. 2000;37:719–21. [springermedizin.de]

  Also known as ear, patella-short stature syndrome, it presents the small ears (microtia), absent or small knee caps (patellae) and short stature. [mybiosource.com]

  Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: A new autosomal recessive syndrome Vertebral and eye anomalies, cutis aplasia, and short stature (VECS): A new syndrome? View more [documents.mx]

• Feeding Difficulties

  difficulties ; Global developmental delay ; Hearing impairment ; High, narrow palate ; Hypoplasia of penis ; Hypoplasia of the maxilla ; Hypoplastic labia majora ; Hypoplastic labia minora ; Hypospadias ; Intellectual disability ; Intrauterine growth [mousephenotype.org]

  The feeding difficulties and the failure to thrive can also result in the short stature. They can also present arched roof of the mouth (palate), abnormally small jaw, droopy eyelids, small head (microcephaly) and small mouth. [mybiosource.com]

  Additional findings may include various skeletal abnormalities, early feeding difficulties, and poor weight gain. [hekim.org]

  Additional clinical findings include pulmonary emphysema, feeding difficulties, urogenital abnormalities, and mammary hypoplasia. Characteristic facial features, which gradually change with age, are frequently described. [genome.jp]

• Weight Gain

  Definition A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. [uniprot.org]

  These affected children’s feeding and growth patterns should be carefully monitored as they often present a problem with the weight gain. [mybiosource.com]

  Clinical aspects Short stature, very slender, poor weight gain, delayed bone age, and absent patellae may be signs, but they are more part of the delayed bone age. [accessanesthesiology.mhmedical.com]

  Additional findings may include various skeletal abnormalities, early feeding difficulties, and poor weight gain. [hekim.org]

• Epilepsy

  Epilepsy progressive myoclonic type 2[?] Epilepsy telangiectasia[?] Epilepsy with myoclono-astatic crisis[?] Epilepsy, benign occipital[?] Epilepsy, myoclonic progressive familial[?] Epilepsy, nocturnal, frontal lobe type[?] [encyclopedia.kids.net.au]

  […] disability syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar [se-atlas.de]

  But epilepsy secondary to CDT1 variants is not known till now. [casereports.bmj.com]

  Deletion Chromosome 2, possible GHD Diastrophic Dysplasia DiGeorge Syndrome Down Syndrome Dubowitz Syndrome & CPP Dyggve Melchior Clausen Dyslexia Research Society International Dyslexia Association Edwards Syndrome Ehlers-Danlos Syndrome Empty Sella Epilepsy [magicfoundation.org]

  With Paroxysmal Exercise-Induced Dystonia Andwriter’s Cramp, Myoclonic Epilepsy AD,AR 100 80 of 80 TBX1 DiGeorge Syndrome, Velocardiofacial Syndrome AD,AR 88.7 35 of 42 TCF12 Craniosynostosis, Isolated Brachycephaly, Isolated Plagiocephaly AD 99.98 73 [igenomix.es]

• High Pitched Voice

  pitched voice, small chin, delayed closure of the fontanel, hypoglycaemia, and a bossed forehead. [isabellasbigdreams.co.uk]

  pitched voice, small chin, delayed closure of the fontanel, hypoglycemia, and a bossed forehead. [en.wikipedia.org]

• Microstomia

  Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. [uniprot.org]

  Additional features can include microstomia, micrognathia, full lips, and a narrow nose with a high nasal bridge. [cags.org.ae]

  Other clinical features include microstomia, microcephaly, hypoplasia of the maxillary, and micrognathia. The skeletal anomalies include complete dislocation of the elbow, hooked clavicle, and clinodactyly. [accessanesthesiology.mhmedical.com]

  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 [hekim.org]

  Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge. Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. [encyclopedia.pub]

• Small Head

  Feingold Medicine American journal of medical genetics 2002 Meier-Gorlin syndrome is a condition primarily characterized by short stature and underdeveloped or missing kneecaps, small ears, and, often, an abnormally small head. [semanticscholar.org]

  Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect. [encyclopedia.pub]

  They can also present arched roof of the mouth (palate), abnormally small jaw, droopy eyelids, small head (microcephaly) and small mouth. [mybiosource.com]

• Severe Short Stature

  Name Ear-Patella-Short Stature Syndrome Synonyms - Classification bone, developmental, genetic, neurological Phenotypes Abnormality of epiphysis morphology ; Abnormality of the ribs ; Anotia ; Aplastic clavicle ; Atresia of the external auditory canal [mousephenotype.org]

  Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly. [ojrd.biomedcentral.com]

• Arthritis

  Nat’l Institute on Deafness & Other Communication Disorders Information Clearinghouse 1 Communication Ave Bethesda MD 20892-3456 Phone #: 301-402-0900 800 #: 800-241-1044 e-mail: [email protected] Home page: http://www.nidcd.nih.gov NIH/National Arthritis [hekim.org]

  Internet: http://www.betterhearing.org Ear Anomalies Reconstructed: Atresia/Microtia Support Group 72 Durand Road Maplewood, NJ 07040 USA Tel: (973)761-5438 Fax: (973)378-8930 Email: atresiami[email protected] NIH/National Institute of Arthritis [metrohealth.net]

• Hip Dislocation

  Many also suffer from scoliosis, hip dislocation, delayed bone age, radial head dislocation, and seizures. [isabellasbigdreams.co.uk]

• Hyperlaxity

  […] syndrome Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Osteopetrosis and related disorders Osteopetrosis with renal tubular acidosis Osteopetrosis-hypogammaglobulinemia syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity [se-atlas.de]

• Hearing Impairment

  impairment ; High, narrow palate ; Hypoplasia of penis ; Hypoplasia of the maxilla ; Hypoplastic labia majora ; Hypoplastic labia minora ; Hypospadias ; Intellectual disability ; Intrauterine growth retardation ; Joint hyperflexibility ; Low-set ears [mousephenotype.org]

• Skin Disease

  Diseases Information Clearinghouse 1 AMS Circle Bethesda MD 20892-3675 Phone #: 301-495-4484 800 #: 877-226-4267 e-mail: [email protected] Home page: http://www.niams.nih.gov/Health_Info For a Complete Report This is an abstract of a report from [hekim.org]

  For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under “Rare Disease Information”. The information provided in this report is not intended for diagnostic purposes. [metrohealth.net]

  disease Rare skin disease Rare surgical thoracic disease Rare syndromic intellectual disability Rare systemic or rheumatologic disease Rare urogenital disease Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Renier-Gabreels-Jasper [se-atlas.de]

• Thin Skin

  The skin is thin, and the vasculature (mainly the head) is pronounced. Genital involvement may include cryptorchidism in boys. In girls - clitoris hypertrophy and hypoplasia of the labia majora or minora. [dovepress.com]

• Suggestibility

  Autosomal recessive inheritance is strongly suggested by the presence of two pairs of affected siblings and the equal sex ratio. [ncbi.nlm.nih.gov]

  Autosomal recessive inheritance is strongly suggested by the presence of two pairs of affected siblings and the equal sex ratio. © Lippincott-Raven Publishers. [journals.lww.com]

  Other conditions to be considered It is suggested that this medical disorder is part of a group of syndromes called primordial dwarfism. [accessanesthesiology.mhmedical.com]

Neuroradiographic imaging and functional inner ear investigations are recommended in the diagnostic workup of this rather specific, probably autosomal recessive mental retardation syndrome with multiple congenital anomalies. [ncbi.nlm.nih.gov]

• Delayed Bone Age

  Clinical aspects Short stature, very slender, poor weight gain, delayed bone age, and absent patellae may be signs, but they are more part of the delayed bone age. [accessanesthesiology.mhmedical.com]

  Many also suffer from scoliosis, hip dislocation, delayed bone age, radial head dislocation, and seizures. [isabellasbigdreams.co.uk]

  Some patients may have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, genu recurvatum, and delayed bone age. Most people with Meier-Gorlin syndrome have distinctive facial features. [cags.org.ae]

Treatment The treatment is based on the symptoms that are evident. The treatment plan needs to be devised with the coordinated efforts of various specialists such as orthopedists, audiologist, pediatricians and surgeons. [mybiosource.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Growth and growth hormone treatment Growth hormone treatment was effective in only four patients, one with ORC4 mutations, one with CDC6 mutations and two without mutations [ 4, 23 ]. [ojrd.biomedcentral.com]

Growth and growth hormone treatment Growth hormone treatment was effective in only four patients, one with ORC4 mutations, one with CDC6 mutations and two without mutations [4, 23]. [ncbi.nlm.nih.gov]

Possible treatments include surgery to remove the tumor, medicines, and radiation therapy. [icdlist.com]

Prognosis Life span is expected to be normal for most individuals with MGS. Osteoarthritis of the knees, secondary to patellar anomalies, may occur at a younger age than usual. [ojrd.biomedcentral.com]

Discussion and conclusion: Recognizing and giving multidisciplinary follow-up will help to know the etiology of the disease, as well as its evolution, management and genetic counseling. [go.gale.com]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Epidemiology Until now, 67 patients with MGS have been described since the first reported patients by Meier in 1959 and Gorlin in 1975 (30 males; 36 females; 1 of unknown sex; age range 0.3-55 years) [ 1 – 22 ]. [ojrd.biomedcentral.com]

Epidemiology Until now, 67 patients with MGS have been described since the first reported patients by Meier in 1959 and Gorlin in 1975 (30 males; 36 females; 1 of unknown sex; age range 0.3-55 years) [1–22]. [ncbi.nlm.nih.gov]

Pathophysiology Unknown. Diagnosis Clinically; neuroradiographic imaging and functional inner ear investigations are recommended. [accessanesthesiology.mhmedical.com]

Thus, this case report may help to prevent MGS misdiagnosis in the future. [preprints.org]

Experientia 27(3): 301-303 Nunan, J., 1992: Prevention of dehydration and calcium depletion in deserticolous geckos. Dactylus, 12: 13-17 Fay, RO.; Graffham, AA., 1982: Biostratigraphic and paleontological studies. [wwe.geoscience.net]

Growth disorders are problems that prevent children from developing normal height, weight, sexual maturity or other features. Very slow or very fast growth can sometimes signal a gland problem or disease. [icdlist.com]

System EPS Evolutionary Programming Society EPS Environment Protectors Society EPS Experimental Psychology Society EPS Edinburgh Photographic Society EPS Engineering Purchase Specification EPS Engineered/Engineering Performance Standard EPS Epidemic Prevention [abbreviationfinder.org]

Equipment Performance Specification EPS Environmental Priority Strategies EPS Engineering and Professional Services Incorporated EPS Encased Postage Stamp EPS Environmental Portfolio Standard EPS Enterprise Password Safe (computer passwords) EPS Epidemic Prevention [acronyms.thefreedictionary.com]