The deletion was not present in the patient's mother's DNA sample, but the father's DNA was unavailable. Currently there are no known treatments. There have been very few reported cases of Primrose syndrome worldwide. [en.wikipedia.org]

A review of literature pertaining to calcification of the external ears is presented. [doi.org]

All the main manifestations were present in our patient. Despite the phenotypic similarity to five other cases, our patient had mild intellectual disability. [ncbi.nlm.nih.gov]

• Short Stature

  Hermann, Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature, Clinical Dysmorphology, 10.1097/MCD.0000000000000244, 28, 1, (41-45), (2019). Ruth Cleaver, Jonathan Berg, Emily Craft, Alison Foster, Richard J. [doi.org]

  Additional findings are hypotrichosis (sparse hair), cataracts, skin atrophy, dental anomalies and short stature. In most cases intelligence is normal, but some may show mental retardation. [bredagenetics.com]

  stature Decreased body height Small stature [ more ] 0004322 Synophrys Monobrow Unibrow [ more ] 0000664 5%-29% of people have these symptoms Aggressive behavior Aggression Aggressive behaviour Aggressiveness [ more ] 0000718 Autism 0000717 Cerebral [rarediseases.info.nih.gov]

• Flexion Contracture

  Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper jaw retrusion [ more ] 0000327 Increased size of the mandible 0040309 Knee flexion [rarediseases.info.nih.gov]

• Absent Nails

  nails Aplastic nails [ more ] 0001798 Bilateral cryptorchidism 0008689 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Gynecomastia Enlarged male breast 0000771 Midface retrusion Decreased size of midface Midface [rarediseases.info.nih.gov]

• Hearing Impairment

  impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Developmental regression Loss of developmental milestones Mental deterioration in childhood [ more ] 0002376 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 [rarediseases.info.nih.gov]

  The patient was a mentally retarded 43-year-old woman who had hearing impairment, distorted facial features, muscle atrophy, cataracts, and ossification of cartilage. [en.wikipedia.org]

• Hearing Problem

  problems, cataracts, brain calcification, and the ossification of ear cartilage. [ncbi.nlm.nih.gov]

  The common symptoms in all reported cases of primrose syndrome include ossified pinnae, learning disabilities or mental retardation, hearing problems, movement disorders (ataxia, paralysis, and parkinsonism among others (likely due, in part, to calcification [en.wikipedia.org]

• Downturned Corners of the Mouth

  corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Generalized osteoporosis 0040160 Genu valgum Knock knees 0002857 Hearing impairment Deafness [rarediseases.info.nih.gov]

Treatment is supportive. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI. [diseaseinfosearch.org]

Optimal dosing standards and treatment regimens await clarification in adequately powered clinical trials. [aafp.org]

The cause is currently unknown and there are no known treatments. [en.wikipedia.org]

Obtained from seeds of Oenothera biennis, it is used for its anti-inflammatory effects in the treatment of skin diseases. [medical-dictionary.thefreedictionary.com]

Non-hormonal treatments The placebo effect Part of the reason few PMS treatments provide long-term relief is the so-called 'placebo effect'. [netdoctor.co.uk]

This paper exemplifies our work on developing reliable omics-based predictors for diagnosis and prognosis. [dtls.nl]

Prognosis With proper diagnosis and treatment, most PCOS symptoms can be adequately controlled or eliminated. Infertility can be corrected and pregnancy achieved in most women although, in some, hormonal disturbances and anovulation may recur. [medical-dictionary.thefreedictionary.com]

Primrose syndrome (PS) (OMIM#295090) is an extremely rare entity of unknown etiology characterized by the progressive wasting of distal muscles of the legs, the small muscles of the hands resulting in contractures, the presence of intellectual disability [ncbi.nlm.nih.gov]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

In the patients the authors have seen, however, neither etiology nor treatment has been this straightforward. Powered by Soroush Sabzi, PCHelperTeam.com - TeXource.com [bermansexualhealth.com]

Tucker emphasized study of the "clinical course" of the disorder in guiding the diagnostic process to neurobehavioral etiologies. [internationalbrain.org]

Nutritional factors in the etiology of the premenstrual tension syndromes. J Reprod Med. 1983;28:446–64. 32. Budeiri D, Li Wan Po A, Dornan JC. Is evening primrose oil of value in the treatment of premenstrual syndrome?. [aafp.org]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2]. 3 Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. 4 Department of Clinical Epidemiology [ncbi.nlm.nih.gov]

Relevant External Links for ZBTB20 Genetic Association Database (GAD) ZBTB20 Human Genome Epidemiology (HuGE) Navigator ZBTB20 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ZBTB20 No data available for Genatlas for ZBTB20 Gene Identification [genecards.org]

Contact Details Organisation AMC, Department of Clinicial Epidemiology, Biostatistics and Bioinformatics (KEBB) Address Meibergdreef 9, 1105 AZ Amsterdam Contact person Prof. dr. [dtls.nl]

Bert Redeker & Raoul C Hennekam Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [nature.com]

Other symptoms usually occur, different in each case, but it is unknown whether or not these symptoms are caused by the same disease. [5] Pathophysiology [ edit ] The cause of Primrose syndrome is currently unknown. [en.wikipedia.org]

In Omega-6 Essential Fatty Acids: Pathophysiology and roles in clinical medicine, Alan R Liss, New York, 1990, 421–426. Douglas S. " Premenstrual syndrome. Evidence-based treatment in family practice ." Can Fam Physician. 2002 Nov; 48: 1789–1797. [verywell.com]

This complement of pathophysiologic mechanisms operates synergistically to move individuals with TBI toward either recovery or to neuropsychiatric morbidity. [internationalbrain.org]

Evening Primrose oil 1000mg is a traditional supplement that is recognised by health practitioners as one of the most sensational preventative discovery’s since vitamin C. [zestlife.co.uk]

Other than that, EPO is not believed to have any negative side effects and is valuable in reducing inflammation and preventing Alzheimer's disease. [dsdaytoday.blogspot.com]

Natural Prevention and Healing of Asherman’s Syndrome Systemic Enzyme Therapy for Scar Tissue Prevention Systemic Enzyme Therapy using systemic enzymes helps the body to break-down and prevent scar tissue formation. [natural-fertility-info.com]

There have been known benefits of green tea such as aiding in losing weight and helps in the prevention of eye disease and protects the vision. [earthclinic.com]

It helps to restore the balance of hormones and thus, prevents the symptoms. [ayurtimes.com]