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]

Case Report This case presented at Department of Pediatrics Unit II, Civil Hospital Karachi, Pakistan in January, 2017. [jpma.org.pk]

• Disability

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

  The syndrome is also characterized by intellectual disability, which is often quite severe. [fdna.health]

  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]

  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]

  Developmental delay was present such as achieving social smile at 4 months and being unable to recognize her mother and not able to hold her neck till six months. [jpma.org.pk]

  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 Finger

  * 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]

• Failure to Thrive

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

  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]

  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]

• 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]

• Skin Lesion

  The researchers suggested a link between the condition and bone metabolism.[3] See also[edit] Skin lesion References[edit] ^ "OMIM Entry - # 151050 - LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM; LMHD". omim.org. [en.wikipedia.org]

  Type 2 usually develops following acute inflammatory skin lesions, in which the areas affected by the skin lesions develop cutis laxa skin symptoms. [rarediseases.org]

• Osteoporosis

  A total of 1 post is filed under Lenz-Majewski Syndrome 1.13.2014 Common bone conditions such as osteoporosis are well identified and treated, though rare bone diseases still continue to remain rare. [globalgenes.org]

  The findings, published in the journal Nature Genetics, shed new light on a key enzyme involved in bone development and maintenance, which could be the target of future therapies to treat rare and more common conditions like osteoporosis. [gosh.nhs.uk]

  Osteoporosis may also present, resulting in fragile bones that are prone to fracture. More severe complications such as cardiovascular or pulmonary symptoms rarely develop. [rarediseases.org]

  Caso atípico de osteoporosis idiopática juvenil. Revista Cubana de Pediatría [Internet]. 2014 [citado 25 julio 2014];86(1):1. [revreumatologia.sld.cu]

  Nature Reviews Molecular Cell Biology (2018) Lipids and synaptic functions Fanny Mochel Journal of Inherited Metabolic Disease (2018) Human Genetics of Sclerosing Bone Disorders Raphaël De Ridder, Eveline Boudin, Geert Mortier & Wim Van Hul Current Osteoporosis [doi.org]

• 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]

• Suggestibility

  All patients have moderate to severe intellectual deficit.Genetic counselingThe elevated age of some patient's fathers of the reported families is suggestive of an autosomal dominantde novo mutation.Visit the Orphanet disease page for more resources. [malacards.org]

  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]

  Genetic counseling The elevated age of some patient's fathers of the reported families is suggestive of an autosomal dominant de novo mutation. The documents contained in this web site are presented for information purposes only. [orpha.net]

• Hypertelorism

  Affiliated tissues include bone, skin and tongue, and related phenotypes are macrocephaly and hypertelorism OMIM : 57 Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct [malacards.org]

  Lenz–Majewski syndrome is a skin condition characterized by hyperostosis, craniodiaphyseal dysplasia, dwarfism, cutis laxa, proximal symphalangism, syndactyly, brachydactyly, mental retardation, enamel hypoplasia, and hypertelorism. [1] :571 In 2013, [ipfs.io]

  Lenz-Majewski syndrome A skin condition characterised by hyperostosis, craniodiaphyseal dysplasia, dwarfism, cutis laxa, prominent veins, bony sclerosis, proximal symphalangism, syndactyly, brachydactyly, mental retardation, enamel hypoplasia and hypertelorism [medical-dictionary.thefreedictionary.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]

  The main characteristic of the phenotype is the craniofacial dysmorphic evolution (large head with prominent veins in scalp, macroglossia, prognathism, midface hypoplasia, large fontanels, widely separated sutures, large & floppy ears, choanal atresia [biocoreopen.org]

• 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]

• Irritability

  Signs of raised intra cranial pressure (ICP) and meningeal irritation were absent. Examination of chest and abdomen was unremarkable. Radiology of skull, chest, abdomen and all four limbs was carried out. [jpma.org.pk]

  Pulmonary arterial hypertension Abnormality of epiphysis morphology Lumbar hyperlordosis Abnormality of the ribs Full cheeks Decreased testicular size Everted lower lip vermilion Anxiety Flat face Micromelia Genu valgum Arthrogryposis multiplex congenita Irritability [mendelian.co]

  DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis Iridocorneal Endothelial Syndrome + iridogoniodysgenesis syndrome + Irons Bhan Syndrome irritable [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]

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]

[…] 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]

(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]

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]

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]

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]

Conclusions: Collectively the data suggest that the transgenes are silenced, that animals with integrations that escape silencing are not viable, or that other technical factors prevent transgene expression. [zfin.org]

Collectively the data suggest that the transgenes are silenced, that animals with integrations that escape silencing are not viable, or that other technical factors prevent transgene expression. [discovery.ucl.ac.uk]