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]

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]

Conclusions: These patients present marfanoid aspect and mental retardation consistent with X-linked inheritance. [revistaseletronicas.pucrs.br]

They frequently present mental retardation with developmental delay and a distinctive behaviour, with hyperactive personality and excessive talkativeness. FGS is characterized by clinical variability and genetic heterogeneity. [scielo.mec.pt]

• Pharyngitis

  Moreover, as our patient's dysphagia improved with physiotherapy and swallowing/speech exercises, there is a possibility that it might have been because of the relative hypotonia of the pharyngeal muscles. [journals.sagepub.com]

• Nasal Voice

  voice 0001611 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167 Scoliosis 0002650 30%-79% of people have these symptoms Aplasia/Hypoplasia of the corpus callosum 0007370 Arachnodactyly Long slender fingers [rarediseases.info.nih.gov]

• Dysphagia

  Although our patient presented with acute-onset dysphagia, the reasons cannot be clearly stated. [journals.sagepub.com]

  […] severe micrognathia and a missense variant in MED12. 61 Prescott TE...Stray-Pedersen A 27286923 2016 20 Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia [malacards.org]

• Dysphagia

  Although our patient presented with acute-onset dysphagia, the reasons cannot be clearly stated. [journals.sagepub.com]

  […] severe micrognathia and a missense variant in MED12. 61 Prescott TE...Stray-Pedersen A 27286923 2016 20 Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia [malacards.org]

• Long Hands

  Lujan (Lujan-Fryns) syndrome is characterised by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal [portal.sahmriresearch.org]

  LFS is characterised by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate [genome.jp]

  Clinically, the patients can be recognized by the facial morphology in addition to the presentation of some of the following features: tall marfanoid stature, macrocephaly, long hands with hyperextensible digits, mild general hypotonia and mild to moderate [scielo.mec.pt]

  Lujan (Lujan–Fryns) syndrome is characterised by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal [digital.library.adelaide.edu.au]

• High and Prominent Forehead

  On examination, the patient presented high stature, prominent forehead, large nose, deep and short filters, long narrow face, low-set ears, small mandible, long arms and fingers, and hypotonia (Figure). He also showed severe mental retardation. [scielo.br]

• Facial Pain

  He denied any cough, headache, facial pain, or breathing problems. He did not have any paresthesias or weakness in any of his limbs. He had normal cranial nerve functions, including normal vision, hearing, and taste. [journals.sagepub.com]

• Nasal Speech

  Cite as: Abstract The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. [pure.mpg.de]

  Abstract The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. [ncbi.nlm.nih.gov]

  A 22q11 deletion syndrome (Shprintzen syndrome or Velo-cardio-facial syndrome) should be excluded by FISH-studies in patients who present nasal speech, slender extremities, and psychiatric problems. [ojrd.biomedcentral.com]

  speech Nasal voice 0001611 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167 Scoliosis 0002650 30%-79% of people have these symptoms Aplasia/Hypoplasia of the corpus callosum 0007370 Arachnodactyly Long [rarediseases.info.nih.gov]

  Abstract Introduction: Lujan-Fryns syndrome (LFS) is an X-linked disorder characterized by varying degrees of symptoms, including mental retardation, Marfanoid habitus, facial deformities, hyper nasal speech, and psychopathology and related behavioral [zjrms.com]

• Excessive Talking

  They frequently present mental retardation with developmental delay and a distinctive behaviour, with hyperactive personality and excessive talkativeness. FGS is characterized by clinical variability and genetic heterogeneity. [scielo.mec.pt]

• Paresthesia

  He did not have any paresthesias or weakness in any of his limbs. He had normal cranial nerve functions, including normal vision, hearing, and taste. He did not use any regular medications. [journals.sagepub.com]

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 need special education and psychological follow-up, and attention should be given to diagnose early psychiatric disorders. [semanticscholar.org]

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]

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

This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. [rareshare.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]

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 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. [ojrd.biomedcentral.com]

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. [ojrd.biomedcentral.com]

[…] specialized follow-up care, including neuropshycological 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. [ojrd.biomedcentral.com]

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. [zjrms.com]

[40] UPF3B is part of the nonsense-mediated mRNA decay (NMD) complex, which performs mRNA surveillance, detecting mRNA sequences that have been erroneously truncated (shortened) by the presence of nonsense mutations.[41] Mutations in UPF3B alter and prevent [en.wikipedia.org]