Individuals with this syndrome may also present with seizures. Since the patient’s mother is mosaic for this variant, this may explain her history of epilepsy. [mnglabs.com]

Acronym LLS Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

We present the syndromes in order of expected frequency of presentation to a clinical genetics unit, although accurate data on prevalence and proportion coming to medical attention are not available for most conditions. [karger.com]

Despite similar presentation, the genetic basis of these two syndromes differs. [frontiersin.org]

• Recurrent Otitis Media

  otitis media Abnormality of the integument Hirsutism Abnormality of the musculoskeletal system Generalized hypotonia Macrocephaly Malar flattening Abnormality of the nervous system Aggressive behavior Anxiety Autistic behavior Chiari malformation Delayed [ncbi.nlm.nih.gov]

• Infertility

  \nHyperandrogenism and abnormal levels of other sex hormones prevent normal release of egg cells from the ovaries (ovulation) and regular menstrual periods, leading to difficulty conceiving a child (subfertility) or a complete inability to conceive (infertility [ncbi.nlm.nih.gov]

• Weight Gain

  For abnormally short stature (with or without poor weight gain), many publications aimed at guiding practitioners are available to assist in a rapid diagnosis [e.g., Bithoney et al. (12), Rose et al. (13), and Jaffe (14)]. [frontiersin.org]

• Prognathism

  He exhibited acral overgrowth, jaw malocclusion, and prognathism, but no history of seizures, intellectual disability, or speech delay. [keio.pure.elsevier.com]

• Hypertension

  \n\nWomen with polycystic ovary syndrome are also at increased risk for developing metabolic syndrome, which is a group of conditions that include high blood pressure (hypertension), increased belly fat, high levels of unhealthy fats and low levels of [ncbi.nlm.nih.gov]

• Alopecia

  Ophthalmology evaluation preferred MSH6 Hereditary nonpolyposis colorectal cancer 5 mismatch repair cancer syndrome *Oncology evaluation preferred CBX2 Sex reversal *Endocrinology or Disorders/Differences of Sexual Development Clinic evaluation preferred HR Alopecia [hopkinsmedicine.org]

• Aggressive Behavior

  behavior Anxiety Autistic behavior Chiari malformation Delayed speech and language development Global developmental delay Intellectual disability Polyphagia Seizure Shyness Slurred speech Syringomyelia Ventriculomegaly Growth abnormality Obesity Overgrowth [ncbi.nlm.nih.gov]

• Fear

  apprehensive, or threatened by uncertainty; fears of falling apart or losing control. [ncbi.nlm.nih.gov]

• Anxiety Disorder

  Lumish et al. (2015) reported a 17-year-old girl with autism spectrum disorder (ASD), developmental delay, intellectual disability, behavioral compulsions, aggressiveness, anxiety disorder, attention deficit-hyperactivity disorder, generalized tonic-clonic [omim.org]

• Irregular Menstruation

  Term ID: 858 Name: Irregular menstruation Synonym: Irregular menses; Irregular periods; Menstrual irregularities; Menstrual irregularity Definition: Abnormally high variation in the amount of time between periods. [mseqdr.org]

  menstruation Polycystic ovaries Abnormality of the immune system Recurrent otitis media Abnormality of the integument Hirsutism Abnormality of the musculoskeletal system Generalized hypotonia Macrocephaly Malar flattening Abnormality of the nervous system [ncbi.nlm.nih.gov]

• Oligomenorrhea

  HP:0000876 Oligomenorrhea ................... HP:0012569 Delayed menarche ................... HP:0100608 Metrorrhagia ................... HP:0400007 Polymenorrhea ................... [mseqdr.org]

• Behavior Problem

  Luscan-Lumish syndrome (LLS) is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. [ncbi.nlm.nih.gov]

  These individuals typically have some degree of developmental delays/intellectual disability and/or behavioral issues and autistic features. These features are variable and range from mild behavioral problems to severe intellectual disability. [luscan-lumish.org]

  Mendelian Rare Diseases LUSCAN-LUMISH SYNDROME; LLS Description Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. [mendelian.co]

  Description Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. [omim.org]

• Delayed Speech and Language Development

  speech and language development Global developmental delay Intellectual disability Polyphagia Seizure Shyness Slurred speech Syringomyelia Ventriculomegaly Growth abnormality Obesity Overgrowth Short stature IMPORTANT NOTE: NIH does not independently [ncbi.nlm.nih.gov]

  Features Top most frequent phenotypes and symptoms related to Luscan-lumish Syndrome; Lls Intellectual disability Seizures Global developmental delay Short stature Generalized hypotonia Failure to thrive Delayed speech and language development Macrocephaly [mendelian.co]

• Slurred Speech

  […] and language development Global developmental delay Intellectual disability Polyphagia Seizure Shyness Slurred speech Syringomyelia Ventriculomegaly Growth abnormality Obesity Overgrowth Short stature IMPORTANT NOTE: NIH does not independently verify [ncbi.nlm.nih.gov]

• Abnormal Coordination

  Slurred speech MedGen UID: 65885 •Concept ID: C0234518 • Finding Abnormal coordination of muscles involved in speech. [ncbi.nlm.nih.gov]

• Based on expert opinion, workup for tall stature that exceeds the individual's mid-parental height should include assessment of growth velocity and should consider full blood counts, complete biochemical analysis, IGF-I, IGFBP-3, free T4, and TSH, [frontiersin.org]

• Hyperinsulinemia

  Obesity and increased insulin levels (hyperinsulinemia) further increase the production of androgens in polycystic ovary syndrome. [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]

Our clinical mission To diagnose, provide optimal care for, and develop treatment plans for patients with Mendelian disorders of the epigenetic machinery or imprinting disorders. [hopkinsmedicine.org]

Surgical treatment of macroglossia in patients with Beckwith-Wiedemann syndrome: a 20-year experience and review of the literature. [frontiersin.org]

The overgrowth syndromes are important to diagnose, not just for accurate genetic counseling, but also for knowledge surrounding cancer surveillance and prognosis. [karger.com]

Due to the AV fistula, high-output heart failure can develop in about 31% of cases and almost 10% manifest distal arterial ischemia, making the overall prognosis of this syndrome worse than KTS (103). [frontiersin.org]

ASD, ID, epilepsy/seizures Macrocephaly Recent Recommendation De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia. [autism.mindspec.org]

Autistic behavior Chiari malformation Delayed speech and language development Global developmental delay Intellectual disability Polyphagia Seizure Shyness Slurred speech Syringomyelia Ventriculomegaly Growth abnormality Obesity Overgrowth Short stature Etiology [ncbi.nlm.nih.gov]

Operationally, this accommodates the considerable phenotypic and etiologic heterogeneity in this domain. For example, approximately 10% of the children with Sotos syndrome have a height <97th centile [Tatton-Brown et al., 2005]. [karger.com]

2015) Yes - 8 Support Comprehensive molecular testing in patients with high functioning autism spectrum disorder Alvarez-Mora MI, et al. (2016) Yes - 9 Recent Recommendation De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology [gene.sfari.org]

Other etiologies include familial tall stature (constitutional tall stature), precocious puberty, obesity, Marfan syndrome, homocystinuria, Klinefelter syndrome, and 47,XYY syndrome (4). • Segmental overgrowth—A phenotype of excessive growth that is confined [frontiersin.org]

Additionally, prevention of obesity should be an important point of attention for patients diagnosed with a SETD2-related overgrowth syndrome. [onlinelibrary.wiley.com]

In polycystic ovary syndrome, abnormal hormone levels prevent follicles from growing and maturing to release egg cells. Instead, these immature follicles accumulate in the ovaries. Affected women can have 12 or more of these follicles. [ncbi.nlm.nih.gov]