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Lenz-Majewski Syndrome

Lenz-Majewski Hyperostotic Dwarfism


Presentation

  • 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.[ncbi.nlm.nih.gov]
  • 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]
  • Acronym LMHD Synonyms Lenz-Majewski syndrome LMS Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
Hair Hypoplasia
  • Hypoplasia Tricho-Rhino-Phalangeal Syndrome Papillon-Lefevre Syndrome Kippel-Feil Syndrome McCusick Syndrome Atrichia with Papules 56 57 Keratosis Pilaris Mild cases are limited to posterior upper arms, thighs the next most common site, may occur on[slideplayer.com]
Flexion Contracture
  • contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Flared metaphysis Flared wide portion of long bone 0003015 Frontal bossing 0002007 Generalized[rarediseases.info.nih.gov]
Ankylosis
  • 0002684 30%-79% of people have these symptoms Abnormal nasolacrimal system morphology 0000614 Abnormality of the metacarpal bones Abnormality of the long bone of hand 0001163 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Elbow ankylosis[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]
  • fontanelles Wide fontanelles 0000239 Macrocephaly Increased size of skull Large head Large head circumference [ more ] 0000256 Macrotia Large ears 0000400 Mandibular prognathia Big lower jaw Increased projection of lower jaw Increased size of lower jaw[rarediseases.info.nih.gov]
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.[ncbi.nlm.nih.gov]
  • 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
  • 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]
Chordee
  • ) and/or a hooded prepuce –Less commonly associated with undescended testes or inguinal hernia o Epispadias –Less common than hypospadias –Urethral meatus on dorsal surface of the penis o Chordee –Ventral curvature of the penis –Most often associated[checkorphan.org]
  • Absent/underdeveloped middle finger bone of the hand [ more ] 0009843 Autosomal dominant inheritance 0000006 Broad clavicles Broad collarbone 0000916 Broad ribs Wide ribs 0000885 Choanal stenosis Narrowing of the rear opening of the nasal cavity 0000452 Chordee[rarediseases.info.nih.gov]
Neonate-Onset
  • Multisystem inflammatory disease, neonatal-onset; Prieur Griscelli syndrome.[checkrare.com]

Treatment

  • […] 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]
  • 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]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Finally, we design small molecule screens targeting skeletal cell lineages or ciliary trafficking to identify potential drug treatments that we test in zebrafish and mouse models of ciliopathies.[cilianetwork.org.uk]

Prognosis

  • Prognosis - Lenz Majewski hyperostotic dwarfism Not supplied.[checkorphan.org]
  • (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]
  • Home Testing: - Home Diabetes Tests - Home Blood Glucose Tests - Home Urine Glucose Tests - Home Urine Ketone Tests - Home Diabetes HbA1c Tests - Home Microalbumin Tests (Kidney) - Home Urine Protein Tests (Kidney) - Home Kidney Tests - Home Eye Tests Prognosis[checkorphan.org]
  • Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused[geneeskundeboek.nl]

Etiology

  • 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).[ncbi.nlm.nih.gov]
  • 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]

Epidemiology

  • 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]
  • 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]
  • 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.es]
  • 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]
Sex distribution
Age distribution

Prevention

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

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