The present case may be considered to fall in the mildest end in the phenotypic continuum of Lenz-Majewski syndrome, suggesting that the clinical spectrum of the disorder may be broader than currently thought. [nature.com]

It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]

The present report demonstrated the variance associated with the secondary phenotypic burden of this syndrome. Full Text: FINAL PDF Refbacks There are currently no refbacks. [bmijournal.org]

• Disability

  LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. [malacards.org]

  [Epub ahead of print] Resumo: Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. [rihuc.huc.min-saude.pt]

  Definition A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. [uniprot.org]

• Developmental Delay

  Chromosome Abnormality a.unbalanced numerical (autosomal) b. numerical trisomy (chromosomes 1-22) c. sex chromosomes XXX; XXXX; XXXXX; XXXY; XXXXY CNS Aneurysm with Neuro-Developmental Delay CNS Tumor with Neuro Developmental Delay Cockayne syndrome Coffin [de.slideshare.net]

  Learn about child developmental delays: Causes, Symptoms, and Therapies. Don't wait years for a diagnosis. Act now and save valuable time. Start Here! [fdna.health]

  COCKAYNE SYNDROME A; CSA Is also known as ;cockayne syndrome type i Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Pica SOURCES: MONDO ORPHANET UMLS NCIT OMIM GARD More info about COCKAYNE [mendelian.co]

  Most affected children have malformations of certain areas of the brain (cortical and cerebellar malformations) that result in delays in reaching developmental milestones (developmental delays) and intellectual disability. [rarediseases.org]

  […] in size of the facial bones Overgrowth of facial bones Overgrowth of facial skeleton Overgrowth of the facial bones [ more ] 0005465 Finger syndactyly 0006101 Global developmental delay 0001263 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] [rarediseases.info.nih.gov]

• Short Stature

  As a syndrome from the group of hyperostotic short stature, the complex is characterized by short stature, characteristic facial features and cutis laxa. Progressive bone sclerotherapy was also observed in the newly described cases. [eshaoxing.info]

  * Short fingers * Short stature * Small jaw * Vertebral abnormalities Prevention - Short stature- cranial hyperostosis- hepatomegaly and diabetes Not supplied. [checkorphan.org]

  stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short palm 0004279 Specific learning disability 0001328 Symphalangism affecting the phalanges of the hand Fused finger bones of the hand 0009773 Thickened calvaria Increased [rarediseases.info.nih.gov]

• Fever

  Página 131 - Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine 1998;77:268-297. ‎ [books.google.es]

  Still’s disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still’s disease may lead to chronic arthritis and other complications. [checkrare.com]

  […] palm Neurological speech impairment Rigidity Long philtrum Abnormality of finger Proteinuria Cranial hyperostosis Abnormality of the metaphysis Bowing of the long bones Delayed skeletal maturation Inguinal hernia Hyperostosis Short neck Cleft palate Fever [mendelian.co]

  FEVER, AUTOSOMAL DOMINANT Sequencing of hotspots Sequencing of all coding exons of the gene - 1.6 MEFV - HS2 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE Sequencing of hotspots Sequencing of all coding exons of the gene - 1.6 MEFV - HS3 FAMILIAL [cegat.de]

  Harlequin Syndrome Harrod Doman Keele Syndrome Hashimoto-Pritzker Syndrome Haspeslagh Fryns Muelenaere Syndrome HEART AND BRAIN MALFORMATION SYNDROME Hecht Scott Syndrome Hecht Syndrome HELIX syndrome HELLP syndrome hemolytic-uremic syndrome + hemorrhagic fever [rgd.mcw.edu]

• Weight Loss

  Loss: Home Testing: - Home Weight Testing - Home Body Fat Testing (BMI) - Home Body Fat Monitoring - Home Fitness Testing * Liver Health: Home Testing - Home Hepatitis Tests - Home Liver Tests * Dibetes: Related Home Testing: - Home Diabetes Tests - [checkorphan.org]

• Cough

  Some individuals with EFEMP2-related cutis laxa develop pulmonary emphysema, a chronic lung disease in which the tiny air sacs in the lungs (alveoli) are damaged or do not function properly, resulting in shortness of breath and a chronic cough. [rarediseases.org]

• Failure to Thrive

  The disorder is characterized by failure to thrive and mental retardation. [doi.org]

  Lenz-Majewski-Like Syndrome: Mesoectodermal dysplasia with macrocephaly, specific facial features (exophthalmos, broad nasal root, anteverted nostrils, large auricles, thick lips, micrognathia), failure to thrive, mental retardation, sparse hair, enamel [accessanesthesiology.mhmedical.com]

  The disorder is also characterized by failure to thrive and severe mental retardation. This condition can be mistaken for craniometaphyseal and craniodiaphyseal dysplasias. However, the absence of cranial nerves impingement confirms the diagnosis. [ai-online.info]

  Affected infants have loose, wrinkled skin, prominent veins, especially over the scalp, large floppy ears and failure to thrive. There may be choanal atresia or stenosis and nasolacrimal duct obstruction. [fdna.health]

• Overeating

  Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. Hennekam is regarded as one of the top dysmorphologists--and indeed one of the top clinical geneticists--in the world. [books.google.de]

  Benefits of FDNA Telehealth Credibility Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide. [fdna.health]

  It is known for its numerous caves and remarkably high cliffs, reaching over 241 metres above normal water level and continuing below the water level. [doxafoxu.ml]

• Diarrhea

  DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES Devriendt syndrome Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification Diaminopentanuria Dianzani Autoimmune Lymphoproliferative Syndrome Diarrhea [rgd.mcw.edu]

• Severe Short Stature

  Diseases related with Muscle weakness and Severe short stature In the following list you will find some of the most common rare diseases related to Muscle weakness and Severe short stature that can help you solving undiagnosed cases. [mendelian.co]

  short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short palm 0004279 Specific learning disability 0001328 Symphalangism affecting the phalanges of the hand Fused finger bones of the hand 0009773 Thickened calvaria Increased [rarediseases.info.nih.gov]

• Muscle Hypotonia

  Hypotonia Bones And Joints Hyperostosis Diaphyseal Undermodeling Of Long Bones Thickening Of Midshaft Cortices Hypoostosis Of Metaphyses And Epiphyses Related: L [neo-genetics.com]

• Large Fontanel

  The condition is characterized by a disproportionately large head with large fontanels and widely separated sutures that close late. The head appears large relative to the reduced size of the trunk and limbs. [doi.org]

  The most important feature is a disproportionately large head in relation to a reduced size trunk and limbs. Large fontanels and widely separated sutures that close lately in childhood are present. [ai-online.info]

  Features: Head And Neck Sclerosis Of Skull And Facial Bones Macrocephaly Large Fontanelles Delayed Closing Of Cranial Sutures Prominent Veins In The Scalp Ears Large And Floppy Ears Eyes Hypertelorism Mouth And Oral Structures Dysplastic Tooth Enamel [neo-genetics.com]

• Prominent Veins of the Scalp

  Cutis laxa with prominent veins in the scalp and abdominal wall and delayed eruption of permanent teeth attracted the attention of clinicians in infancy and adolescence, respectively. [nature.com]

  Features: Head And Neck Sclerosis Of Skull And Facial Bones Macrocephaly Large Fontanelles Delayed Closing Of Cranial Sutures Prominent Veins In The Scalp Ears Large And Floppy Ears Eyes Hypertelorism Mouth And Oral Structures Dysplastic Tooth Enamel [neo-genetics.com]

  veins on the scalp (Cutis laxa) and enamel hypolasia, brachymesophalangy with proximal symphalangism. [jpma.org.pk]

• Delayed Closure of Fontanelles

  At a glance It is characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive skeletal osteosclerosis with severe growth retardation and a progeroid [accesspediatrics.mhmedical.com]

  Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive skeletal sclerosis with severe growth retardation and a progeroid appearance. [accessanesthesiology.mhmedical.com]

  Spanish displasia de Lenz - Majewski English Delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis Last Update: 2014-12-09 Usage Frequency: 1 Quality: Warning: This alignment [mymemory.translated.net]

• Broad Nasal Bridge

  She had a broad nasal bridge, root, and tip, protruding ears, and bifid frenula (Figure 2). She had a retrognathic mandible and a severe Angle Class III malocclusion (Figure 3). [hindawi.com]

• Speech Disorder

  HYPERTELORISM AND DISTINCTIVE FACIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR [rgd.mcw.edu]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Currently, however, those affected have to be satisfied with symptomatic treatment. This symptomatic treatment can include, for example, surgical correction of the deformities. [eshaoxing.info]

[…] of the penis improves urinary flow, erectile function, and fertility –Optimally, a skin flap is created using the foreskin * Chordee –Ventral release and urethroplasty at age 6–12 months o Dorsal hood –May not require treatment, or a modified routine [checkorphan.org]

For weeks her father took her mother out in the bitter cold for daily radiation treatments. Finally, at Rushfeldt's urging, the oncologist told her mother that all that aggressive treatment was not going to cure her. [startribune.com]

Research Interests IFT88, Carpenter syndrome, Jeune syndrome, skeletal ciliopathies, cilia trafficking The main focus of our lab is to investigate the pathogenesis and treatment of skeletal ciliopathies. [cilianetwork.org.uk]

(Outcomes/Resolutions) The prognosis of SCARF Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms and complications [dovemed.com]

Prognosis - Lenz Majewski hyperostotic dwarfism Not supplied. [checkorphan.org]

Prognosis Patients with Mohr syndrome have normal intelligence in the majority of cases. Majewski syndrome is a lethal skeletal dysplasia. [thefetus.net]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). [rihuc.huc.min-saude.pt]

Abstract Lenz-Majewski syndrome is a rare disorder of unknown etiology. The condition is characterized by a disproportionately large head with large fontanels and widely separated sutures that close late. [doi.org]

ETIOLOGIES Some conditions (in the school-aged population) on the Deafblind census are listed below. Please click on the name of any condition that is in maroon and underlined to get more detailed information. [dbproject.mn.org]

Relevant External Links for PTDSS1 Genetic Association Database (GAD) PTDSS1 Human Genome Epidemiology (HuGE) Navigator PTDSS1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PTDSS1 No data available for Genatlas for PTDSS1 Gene Purification [genecards.org]

Summary Epidemiology Nine cases have been reported in the literature. Clinical description Marked hypertelorism and broad forehead are noted in all patients as well as large ears. [orpha.net]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

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.es]

Pathophysiology Nature of the disorder is obscure. Possibly caused by a dominant mutation leading to disturbance of connective tissue. [accesspediatrics.mhmedical.com]

Increased intracranial pressure was recognized and treated early with the aim of preventing neurological morbidity. [ncbi.nlm.nih.gov]

Increased intracranial pressure was recognized and treated early with the aim of preventing neurological morbidity. 14 Citations References SHOWING 1-10 OF 21 REFERENCES Lenz-Majewski syndrome. R. GorlinC. [semanticscholar.org]

[…] with hypospadias * Micropenis (microphallus) –Defined as stretched penis length shorter than 2 standard deviations below the mean for gestational age –Associated with Prader-Willi, Kallmann Laurence-Moon-Biedl syndrome, and growth hormone deficiency Prevention [checkorphan.org]

Increased intracranial pressure was recognized and treated early with the aim of preventing neurological morbidity. a Department of Pediatrics b Department of Radiology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand Correspondence and requests [journals.lww.com]