Lenz Majewski hyperostotic dwarfism
Alternate names[edit | edit source]
Lenz-Majewski syndrome; Lenz-Majewski hyperostotic dysplasia; Multiple congenital anomalies, mental retardation and progressive skeletal sclerosis; Hyperostotic dwarfism Lenz-Majewski type
Definition[edit | edit source]
An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
Epidemiology[edit | edit source]
Nine cases have been reported in the literature.
Cause[edit | edit source]
- LMHD disclosed that all carried one of three heterozygous missense mutations in PTDSS1 encoding phosphatidylserine synthase 1 (PSS1). [1].
- PSS1 promotes the biosynthesis of phosphatidylserine (PTDS), which is a functional constituent of lipid bilayers.
- In vitro, these PTDSS1 mutations were gain-of-function and increased PTDS production.
- Notably, PTDS binds calcium within matrix vesicles to engender hydroxyapatite crystal formation, and may enhance mesenchymal stem cell differentiation leading to osteogenesis.
Inheritance[edit | edit source]
The elevated age of some patient's fathers of the reported families is suggestive of an autosomal dominant de novo mutation.
Signs and symptoms[edit | edit source]
- Marked hypertelorism and broad forehead are noted in all patients as well as large ears.
- Loose and wrinkled atrophic skin with prominent veins is also apparent, giving the patient a progeroid appearance.
- Increasing generalized osteosclerosis of tubular bones, vertebrae and cranial bones is a characteristic feature.
- Cutaneous syndactyly of 2nd to 5th fingers was observed in all patients, as well as brachydactyly and proximal symphalangism .
- All patients have moderate to severe intellectual deficit.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Abnormal cortical bone morphology
- Abnormality of dental enamel(Abnormal tooth enamel)
- Abnormality of the metaphysis(Abnormality of the wide portion of a long bone)
- Aplasia/Hypoplasia of the skin(Absent/small skin)
- Aplastic clavicle(Absent collarbone)
- Brachydactyly(Short fingers or toes)
- Broad forehead(Increased width of the forehead)
- Choanal atresia(Blockage of the rear opening of the nasal cavity)
- Delayed cranial suture closure
- Delayed skeletal maturation(Delayed bone maturation)
- Facial hyperostosis(Enlargment of the facial bones)
- Finger syndactyly
- Global developmental delay
- Hypertelorism(Wide-set eyes)
- Intellectual disability(Mental deficiency)
- Joint hyperflexibility(Joints move beyond expected range of motion)
- Large fontanelles(Wide fontanelles)
- Macrocephaly(Increased size of skull)
- Macrotia(Large ears)
- Mandibular prognathia(Big lower jaw)
- Osteopetrosis(Harder, denser, fracture-prone bones)
- Prematurely aged appearance(Precociously senile appearance)
- Redundant skin(Loose redundant skin)
- Severe short stature(Dwarfism)
- Short palm
- Specific learning disability
- Symphalangism affecting the phalanges of the hand(Fused finger bones of the hand)
- Thickened calvaria(Increased thickness of skull cap)
30%-79% of people have these symptoms
- Abnormal nasolacrimal system morphology
- Abnormality of the metacarpal bones(Abnormality of the long bone of hand)
- Cryptorchidism(Undescended testes)
- Elbow ankylosis
- Epispadias
- Facial palsy(Bell's palsy)
- Femoral hernia
- Hypospadias
- Inguinal hernia
- Thick vermilion border(Full lips)
- Wide mouth(Broad mouth)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
References[edit | edit source]
- ↑ Whyte MP, Blythe A, McAlister WH, Nenninger AR, Bijanki VN, Mumm S. Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1. J Bone Miner Res. 2015 Apr;30(4):606-14. doi: 10.1002/jbmr.2398. PMID: 25363158.
NIH genetic and rare disease info[edit source]
Lenz Majewski hyperostotic dwarfism is a rare disease.
Lenz Majewski hyperostotic dwarfism Resources | ||
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