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]

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]

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. [ojrd.biomedcentral.com]

In the present case, in spite of probable difficulty in airway and hemostability, sevoflurane-N2O maintenance enabled safe and reliable anesthesia. [longdom.org]

• Marfanoid Habitus

  X-Linked Mental Retardation with Marfanoid Habitus Lujan Syndrome Lujan-Fryns Syndrome Mental retardation, X-linked, with marfanoid habitus X-Linked Intellectual Deficit with Marfanoid Habitus XLMR with Marfanoid Features Marfanoid habitus, mild general [bioportal.bioontology.org]

  Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). [scielo.br]

  Therefore, the combination of ID and marfanoid habitus in a male patient is not sufficient for the diagnosis of LFS. [pure.mpg.de]

  Lubs: A form of X-linked mental retardation with marfanoid habitus. American Journal of Medical Genetics, 1984, 17: 311-322. J. P. Fryns, M. Buttiens: X-linked mental retardation with marfanoid habitus. [whonamedit.com]

  Lujan JE, Carlin ME, Lubs HA: A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet. 1984, 17: 311-322. 10.1002/ajmg.1320170124. CrossRef PubMed 5. Fryns JP, Buttiens M: X-linked mental retardation with marfanoid habitus. [springermedizin.de]

• Developmental Delay

  One affected individual was carrier of a different recurrent duplication on 16p11.2 that has been reported several times to the DECIPHER and ISCA databases in individuals with autism, intellectual disability (ID), and developmental delay. [pure.mpg.de]

  DELAY Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency + CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL [rgd.mcw.edu]

  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]

• Tall Stature

  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]

  An X-linked recessive mental retardation syndrome (OMIM:309520) characterised by tall stature, hypernasal voice, hyperextensible digits and high nasal root. [medical-dictionary.thefreedictionary.com]

  Definition Clinically, Lujan-Fryns syndrome can be distinguished from Opitz-Kaveggia syndrome by tall stature, hypernasal voice, hyperextensible digits and high nasal root. [uniprot.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]

  The marfanoid features include a tall stature, long thin hyper-extensible fingers and toes, but no true arachnodactyly, short halluces, long second toes and sandal gap [4–12]. The marfanoid stature becomes evident after puberty [13]. [ojrd.biomedcentral.com]

• Short Stature

  Stature and Facioauriculothoracic Malformations Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies Short Stature-Obesity Syndrome Shprintzen-Goldberg Craniosynostosis Silver-Russell syndrome + Simosa Cranio Facial [rgd.mcw.edu]

  Patients show a distinctive facial appearance, a tall and prominent forehead, short stature, small prominente ears with simplified helical pattern, frontal hair upsweep, hypotonia and constipation. [scielo.mec.pt]

  XLID-optic atrophy (AGTR2) Arts, PRPP synthetase superactivity (PRPS1) XLID-short stature-muscle wasting (NXF5) Mitochondrial encephalopathy (NDUFA1) 23 21.2 21.3 22.1 22.2 22.3 XLID-hyperekplexia-seizures (ARHGEF9) Epilepsy-intellectual disability limited [vdocuments.net]

  Subsequently, Tzschach et al. 15 identified a MED12 variant (p.Arg815Gln) in a familial patient with moderate intellectual disability, short stature, and microcephaly (detailed information is unavailable) in a large cohort study that investigated X-linked [nature.com]

• Multiple Congenital Anomalies

  MED12 - Lujan-Fryns syndrome This test is available for the following conditions: Conditions > Intellectual Disability > Lujan-Fryns syndrome Conditions > Multiple congenital anomalies (MCA) > Lujan-Fryns syndrome This product is also part of the following [order.radboudumc.nl]

  Syndrome Larsen-like syndrome B3GAT3 type Leichtman Wood Rohn Syndrome LEOPARD syndrome + Lesch-Nyhan syndrome + Linear Skin Defects with Multiple Congenital Anomalies 2 Loeys-Dietz syndrome + Loucks-Innes Syndrome Lujan Fryns Syndrome Lujan-Fryns syndrome [rgd.mcw.edu]

  Signs & Symptoms Fryns syndrome is characterized by multiple congenital anomalies that vary in severity from person to person. [rarediseases.org]

  An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilkd 1974; 117 : 1–18. 6 Lujan JE, Carlin ME, Lubs HA. A form of X-linked mental retardation with marfanoid habitus. [nature.com]

• Constipation

  Patients show a distinctive facial appearance, a tall and prominent forehead, short stature, small prominente ears with simplified helical pattern, frontal hair upsweep, hypotonia and constipation. [scielo.mec.pt]

  Variants from UniProtKB/Swiss-Prot for MED12 Gene - elite association - COSMIC cancer census association via MalaCards Opitz-Kaveggia syndrome (OKS) [MIM:305450]: X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation [genecards.org]

  He is often constipated, which is likely because he shows stubbornness in his eating habits. Depending on his mood, he often refuses bathing. [nature.com]

• 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]

• Receding Chin

  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]

  Description Lujan-Fryns syndrome: note the long narrow face, maxillary hypoplasia, small mandible, long nose, thin upper lip and receding chin Date 2007 Source Griet Van Buggenhout, Jean-Pierre Fryns. [commons.wikimedia.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]

  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]

  Craniofacial features in Lujan-Fryns syndrome include prominent forehead, long narrow face, maxillary hypoplasia, small mandible, long nose with high and narrow nasal bridge, short and deep philtra, thin upper lip, highly arched palate, receding chin, [scielo.br]

• High Arched Palate

  […] and narrow nasal bridge; short and deep philtrum; thin upper lip; and high-arched palate. [accessanesthesiology.mhmedical.com]

  One presented with mild mental retardation and both patient had Marfanoid habitus and similar craniofacial anomalies (they had a long and narrow face, small mandible, high‐arched palate, and hypernasal voice) as previously reported by Lujan et al. in [onlinelibrary.wiley.com]

  Facial dysmorphism includes, but is not limited to, features such as prominent forehead, long narrow face, maxillary hypoplasia, small mandible, high-arched palate, small or receding chin, and low-set, normal-shaped ears. [journals.sagepub.com]

  On intraoral examination there was presence of high arch palate, crowding and drifting of teeth with anterior open bite, narrow U-shaped maxillary arch and square shaped mandibular arch, mixed dentition, rampant caries, pain on percussion in relation [article.sapub.org]

  Enrique Lujan and Jean-Pierre Fryns.[21] The initial observation of suspected X-linked intellectual disability with Marfanoid features and craniofacial effects such as a high-arched palate was described by Lujan et al. in 1984.[17] In the report, four [en.wikipedia.org]

• Macrocephaly

  Specifically, these are dysgenesis of the corpus callosum, macrocephaly/relative macrocephaly, a tall forehead, hypotonia, mental retardation and behavioural disturbances. [portal.sahmriresearch.org]

  […] quality Turnaround Time (Days) - 60 Specialties - Rare diseases, Neurology / Neuropediatrics, Pediatrics CGC Reference - 4661 Associated Tests Opitz-Kaveggia syndrome (sequence analysis of MED12 gene) Lujan-Fryns syndrome (sequence analysis of MED12 gene) Macrocephaly [cgcgenetics.com]

  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]

• 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]

• Hyperlaxity

  General muscular hypotonia and hyperlaxity of the joints are further features. Seizures are possible, and mental retardation is described as mild to severe. Partial or complete agenesis of the corpus callosum has been reported in some cases. [accessanesthesiology.mhmedical.com]

• Abnormal Behavior

  Atypical antipsychotics, serotonin reuptake inhibitors and anticonvulsants have all been found to be helpful in treating various aspects of abnormal behavior. [article.sapub.org]

• Narrow Face

  The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent forehead), tall marfanoid stature and long slender extremities, and behavioural problems [semanticscholar.org]

  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]

  Description Lujan-Fryns syndrome: note the long narrow face, maxillary hypoplasia, small mandible, long nose, thin upper lip and receding chin Date 2007 Source Griet Van Buggenhout, Jean-Pierre Fryns. [commons.wikimedia.org]

  Craniofacial features in Lujan-Fryns syndrome include prominent forehead, long narrow face, maxillary hypoplasia, small mandible, long nose with high and narrow nasal bridge, short and deep philtra, thin upper lip, highly arched palate, receding chin, [scielo.br]

  face; maxillary hypoplasia; long nose with high and narrow nasal bridge; short and deep philtrum; thin upper lip; and high-arched palate. [accessanesthesiology.mhmedical.com]

• Frontal Bossing

  bossing 0002007 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperactivity More active than typical 0000752 Impaired social interactions Impaired social interaction Poor social interactions [ more ] 0000735 Joint laxity [rarediseases.info.nih.gov]

• Hyperactivity

  Psychiatric symptomatology of Lujan-Fryns syndrome : an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. [medical-dictionary.thefreedictionary.com]

  […] disorder Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ] 0007018 Hypoplasia of the maxilla Decreased size of maxilla Decreased size of [rarediseases.info.nih.gov]

  Psychiatric symptomatology of Lujan-Fryns syndrome: An X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. [zjrms.com]

  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]

• 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]

  talkativeness, consistent strength in socialization skills, imperforate anus (occlusion of the anus) and ocular hypertelorism (extremely wide-set eyes).[44][45] Whereas LFS is associated with missense mutation p.N1007S, FGS is associated with missense [en.wikipedia.org]

• Global Developmental Delay

  Global developmental delay, Microcephaly, Seizures, Ventriculomegaly 71,132,465(+) G/A coding_sequence_variant, missense_variant rs1057519381 likely-pathogenic, FG syndrome 71,124,276(+) G/A coding_sequence_variant, missense_variant rs1057519912 likely-pathogenic [genecards.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 need special education and psychological follow-up, and attention should be given to diagnose early psychiatric disorders. [semanticscholar.org]

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

Management including treatment There is no specific treatment for this condition. Attention should be given to prevent severe scoliosis and progressive orthopaedic problems. [ojrd.biomedcentral.com]

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. [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 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]

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

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]

In general, the committee decides only to report (likely) pathogenic variants indicative of a treatable or preventable health problem, when it is regarded to be in the counselee’s best interest to be informed. [order.radboudumc.nl]