Symptoma

Ear - Patella - Short Stature Syndrome

Meier-Gorlin syndrome

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. [ojrd.biomedcentral.com]

Acronym MGORS1 Synonyms Ear patella short stature syndrome EPS Microtia absent patellae micrognathia syndrome Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.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]

  • Short Stature

    It has also been called the ear-patella-short stature syndrome [Boles et al., 1994: Clin Dysmorphol 3:207-214]. We report on two brothers with Meier-Gorlin syndrome, the younger of whom was more severely affected. [ncbi.nlm.nih.gov]

    Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). Clinical Dysmorphology, 3 (3), pp. 207-14. Boles RG, et al. Further Delineation of the Ear, Patella, Short Stature Syndrome (Meier-Gorlin Syndrome). [unboundmedicine.com]

    Am JMed Genet 64:447452.Boles RG, Teebi AS, Schwartz D, Harper JF (1994): Further delineation ofthe ear, patella, short stature syndrome (Meier-Gorlin syndrome). [documents.tips]

    The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs. Am J Med Genet. 1999;84:61-67. Teebi AS, Gorlin RJ. Not a new Seckel-like syndrome but ear-patella-short stature syndrome. Am J Med Genet. 1997;70:454. [rarediseases.org]

  • 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]

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

    difficulties-developmental delay-microcephaly syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypotonia-spasticity-sleep [se-atlas.de]

  • 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]

    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. [ghr.nlm.nih.gov]

    Furthermore, patients with MGS have a recognizable facial phenotype with microstomia, full lips and retro-/micrognathia at young age (Fig. 1 ). The nose can be narrow and convex with a high nasal bridge. [ojrd.biomedcentral.com]

  • 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]

  • Low Set Ears

    […] delay ; Hearing 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 [mousephenotype.org]

  • Withdrawn

    […] symbols: HSORC1, ORC1L, PARC1 ), GMNN (Withdrawn symbols: Gem ), CDC45 (Withdrawn symbols: CDC45L, CDC45L2 ), ORC4 (Withdrawn symbols: HsORC4, ORC4L, Orc4p ), CDT1 (Withdrawn symbols: DUP, RIS2 ), CDC6 (Withdrawn symbols: CDC18L ), ORC6 (Withdrawn symbols [mousephenotype.org]

  • Clitoral Hypoplasia

    Phenotypes Abnormality of epiphysis morphology ; Abnormality of the ribs ; Anotia ; Aplastic clavicle ; Atresia of the external auditory canal ; Bifid uvula ; Breast aplasia ; Camptodactyly of finger ; Clinodactyly of the 5th finger ; Clitoral hypertrophy ; Clitoral [mousephenotype.org]

  • Clitoromegaly

    Clitoromegaly was found in two of the four re-ported cases, while in the other two, information wasnot available. Prominent eyes were noted in the Boleset al. [1996] cases. [documents.tips]

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

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

    A delayed bone age and genu recurvatum are often seen in patients with MGS. Joint contractures, including club feet, were present in 23 % (7/30) of patients. Not much is known about the reproduction of patients with MGS. [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 ]. [ojrd.biomedcentral.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

[…] brachydactyly, and premature birth: A new autosomal dominant syndrome Dwarfism, rhizomelic limb shortness, and abnormal face: New short stature syndrome sharing some manifestations with Robinow syndrome Expression of NUP98/TOP1, but not of TOP1/NUP98, in a treatment-related [documents.mx]

The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. [hekim.org]

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]

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]

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]

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]

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]

This work was supported by funding from the MRC and Lister Institute of Preventative Medicine. A.P.J. is an MRC Senior Clinical Fellow and Lister Institute Prize fellow. [nature.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]