CASE REPORT A 25-year-old man presented to the Division of General Neurology, at Universidade Federal de São Paulo, with developmental delay and learning disabilities since childhood. [scielo.br]

Joint hyperextensibility and pectus excavatum might be present. Secondary sexual development and testicular size is normal. There is hypernasality, without velopharyngeal incompetence or palatal clefting. Seizures are present in some patients. [ncbi.nlm.nih.gov]

Clinical description Patients present tall stature, long hyper-extensible fingers and toes, short halluces and long second toes. Patients have mild to moderate intellectual disability. [orpha.net]

Case Presentation A 17-year-old boy with unremarkable past history presented to the medical outpatient department (OPD) of Khyber Teaching Hospital (KTH), Peshawar, with a one-week history of dysphagia. [journals.sagepub.com]

There is no specific treatment for this condition. Patients need special education and psychological follow-up, and attention should be given to diagnose early psychiatric disorders. [semanticscholar.org]

Management and treatment There is no specific treatment for this condition. Patients require specialized education and psychological follow-up. Psychiatric disorders (psychosis) should be diagnosed as early as possible. [orpha.net]

There is no specific treatment for this condition. Patients should be monitored periodically to prevent severity of the condition. [article.sapub.org]

Management including treatment There is no specific treatment for this condition. Attention should be given to prevent severe scoliosis and progressive orthopaedic problems. [ncbi.nlm.nih.gov]

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]

Treatment and prognosis The prognosis is generally poor with a majority of cases being stillborn or not surviving beyond the early neonatal period. A lot of the mortality can be due to development of pulmonary hypoplasia. [radiopaedia.org]

Prognosis Data on life expectancy are not available as most reports describe patients in adolescence and young adulthood. Special attention should be given to comorbidity and behavioral problems. [orpha.net]

Prognosis Most reports describe patients at adolescent and young adult age. Special attention should be given to comorbidity and behavioural problems. Unresolved questions Thus far, the genetic defect and the mechanism is unknown. [ncbi.nlm.nih.gov]

Since there is a wide variety of signs and symptoms, treatment and prognosis for the condition vary greatly from person to person. [rarediseases.org]

Etiology The Lujan-Fryns syndrome is a developmental disorder of genetic origin. In the original Lujan family, a novel missense mutation in the mediator complex subunit 12, MED12 gene (Xq13) was found as the cause of Lujan-Fryns syndrome. [orpha.net]

There is currently no treatment for LFS or MED12 malfunction as the exact etiology remains unclear1. We report as case of LFS in a 12 year old female patient. 2. [article.sapub.org]

[…] with the Lujan-Fryns syndrome. 61 56 Gurrieri F...Neri G 2018074 1991 9 X-linked mental retardation with marfanoid habitus: first report of four Italian patients. 61 56 Lalatta F...Neri G 2018063 1991 10 Clinical genetics evaluation in identifying the etiology [malacards.org]

However, neither the exact etiology nor the prevalence rates in general population are known.11 It must be specifically considered in the differential diagnoses of mentally retarded and psychiatric patients and in those with marfanoid body habitus and [journals.sagepub.com]

[…] several other features of LFS can be found with Marfan syndrome, a connective tissue disorder.[4] The finding of aortic root dilation in both disorders suggests that a mutation in an unspecified connective tissue regulating gene may contribute to the etiology [en.wikipedia.org]

Summary Epidemiology The syndrome affects predominantly males. The prevalence in the general population is not known. Clinical description Patients present tall stature, long hyper-extensible fingers and toes, short halluces and long second toes. [orpha.net]

Epidemiology The prevalence in the general population is not known. The Lujan-Fryns syndrome affects predominantly males. [ncbi.nlm.nih.gov]

[…] specialized follow-up care, including neuro-psychological evaluation methods and therapies, and special education, should be given to diagnose and prevent psychiatric disorders and related behavioral problems such as psychosis and outbursts of aggression.[9] Epidemiology [en.wikipedia.org]

[…] amino acid asparagine, normally located at position 1007 along the MED12 sequence, has been mistakenly replaced by serine.[27] This mutation in MED12 causes incorrect expression and activity of the protein it encodes, resulting in the disorder.[3][9] Pathophysiology [en.wikipedia.org]

Attention should be given to prevent severe scoliosis and progressive orthopaedic problems. Patients with cardiac problems or epileptic seizures should be examined on a regular basis. [ncbi.nlm.nih.gov]

A variety of corrective, preventive and intervention therapies may be prescribed [15]. [article.sapub.org]

No specific treatment for LFS has been developed, so patients should be monitored periodically to prevent the exacerbation of symptoms (7). In general, patients need special training and psychological support. [brieflands.com]

Close attention and specialized follow-up care, including neuro-psychological evaluation methods and therapies, and special education, should be given to diagnose and prevent psychiatric disorders and related behavioral problems such as psychosis and [en.wikipedia.org]