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Raine Syndrome

RNS


Presentation

  • Parental consanguinity was frequently present.[orpha.net]
  • The syndrome revealed markedly variable presentations such as facial dysmorphy and developmental delay, and was localized to diffuse bone osteosclerosis.[ncbi.nlm.nih.gov]
Short Stature
  • Our patient had the common craniofacial features as well as, uncommon features such as protruding tongue, short stature, and hypoplastic distal phalanges.[ncbi.nlm.nih.gov]
  • stature and fibular hypoplasia Gay Feinmesser Cohen syndrome Lipoic acid synthetase deficiency Saito Kuba Tsuruta syndrome PARC syndrome Bone dysplasia lethal Holmgren type Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome[checkrare.com]
  • stature syndrome) CDT1 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC1 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC4 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC6 Meier-Gorlin syndrome (Ear-patella-short[genda.com.ar]
  • stature Decreased body height Small stature [ more ] 0004322 Thoracic hypoplasia Small chest Small thorax [ more ] 0005257 Showing of 59 Last updated: 6/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov]
Turkish
  • We describe three affected sibs with Raine syndrome born to a consanguineous Turkish couple. Clinical findings and post-mortem assessment are presented.[ncbi.nlm.nih.gov]
  • ., 2007 [ 21 ] 3 c.1121T G (p.Leu374Arg) Exon 6 Homozygous missense mutation F Yes neonatal death Turkish Periosteal bone formation, Osteosclerosis, Thoracic Hypoplasia, Pulmonary Hypoplasia, hypoplastic fingernails, Brachydactyly, metaphyseal flaring[bmcmedgenet.biomedcentral.com]
Dysmorphic Face
  • Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Many cases have also been reported with oro-dental abnormalities, and developmental delay.[ncbi.nlm.nih.gov]
Periodontitis
  • Liu P et al. (2014) Inactivation of Fam20C in cells expressing type I collagen causes periodontal disease in mice. [ ] 14.[moldiag.com]
  • Currarino triad Spondylometaphyseal dysplasia with cone-rod dystrophy Brachydactyly with hypertension Acral peeling skin syndrome Congenital central hypoventilation syndrome Alternating hemiplegia of childhood Carpenter syndrome Ehlers-Danlos syndrome, periodontitis[checkrare.com]
Abnormal Teeth
  • teeth Hydrocephalus, impaired early development, with an increase in age severe developmental delay observed Simpson et al., 2009 [ 11 ] 11 c.796G A (p.Gly266Arg) Exon 2 Compound Heterozygous missense mutation M No (Age 11 years at the time of inverstigation[bmcmedgenet.biomedcentral.com]
Dysplastic Ears
  • The details of death is unavailable Brazilian Case 2: Short fingers Case 1,2,3: Dysplastic ears, midface hypoplasia, exophthalmos, Case 1,2,3: Dental caries, calculus, severe gingivitis, dental plaque, open bite malocclusion, abnormal enamel, high arched[bmcmedgenet.biomedcentral.com]
Widely Spaced Nipples
  • All the limbs were short and the thorax was small with widely spaced nipples. Radiologically, there was increased bone density in some bones, periosteal new bone formation, and marked bowing of the femurs, tibias, and ulnas.[cags.org.ae]
Large Fontanel
  • fontanel * Short neck * Stillbirth * Retarded fetal growth Causes - Raine syndrome Not supplied.[checkorphan.org]
  • In the skull, the cranial base and vault were sclerotic although overall ossification appeared delayed with wide sutures and large fontanelles. Cranial CT demonstrated microcrania, an occipital encephalocele, facial hypoplasia and proptosis.[cags.org.ae]
  • fontanelles Wide fontanelles 0000239 Low-set ears Low set ears Lowset ears [ more ] 0000369 Median cleft lip and palate Central cleft lip and palate Midline cleft lip/palate [ more ] 0008501 Microcephaly Abnormally small skull Decreased circumference[rarediseases.info.nih.gov]
Short Neck
  • neck * Stillbirth * Retarded fetal growth Causes - Raine syndrome Not supplied.[checkorphan.org]
  • , Pulmonary Hypoplasia Prominent forehead, short neck, proptosis, midfacial hypoplasia, depressed nasal bridge Not Reported Not Reported Simpson et al., 2007 [ 21 ] 6 c.1094G A (p.Gly365Glu) Exon 6 Compound heterozygous mutation F No neonatal death Unknown[bmcmedgenet.biomedcentral.com]
  • neck Decreased length of neck 0000470 30%-79% of people have these symptoms Gingival fibromatosis 0000169 Gingival overgrowth Gum enlargement 0000212 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth retardation [ more ] 0001511[rarediseases.info.nih.gov]
Cerebral Calcification
  • In 1985, we briefly reported infant sisters with a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification.[ncbi.nlm.nih.gov]
  • […] unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification.[experts.umn.edu]
  • Ohlsson A, Cumming WA, Paul A, Sly WS (1986) Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. Pediatrics 77:371–381 PubMed Google Scholar 6.[link.springer.com]
  • […] the knee. ( 30151622 ) Rolvien T...Oheim R 2018 4 Non lethal Raine syndrome and differential diagnosis. ( 27667191 ) Elalaoui S.C....Sefiani A. 2016 5 Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral[malacards.org]
  • […] sisters with a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification.[biochem.slu.edu]

Workup

  • Wrote the revised draft of the manuscript: DP, Laboratory workup: DP and RB. Made critical revisions and approved final version: JS and FS. All authors reviewed and approved the final manuscript.[bmcmedgenet.biomedcentral.com]
Gliosis
  • However, no obvious gliosis, extra-axial collection or lesions were noted. Her echocardiogram showed normal systemic and pulmonary venous drainage, normal valves, and normal sized cardiac chambers.[bmcmedgenet.biomedcentral.com]

Treatment

  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • 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]
  • Treatment - Raine syndrome * Treat the underlying cause, although treatment of Graves’ disease does not always improve ophthalmopathy, and radioactive iodine may make it worse; systemic steroids for acute flareups only * Prevent eye injury and discomfort[checkorphan.org]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.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]

Prognosis

Etiology

  • In 2007, the etiology emerged as loss-of-function mutation of FAM20C that encodes family with sequence similarity 20, member C.[ncbi.nlm.nih.gov]
  • Etiology Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia.[orpha.net]

Epidemiology

  • Summary Epidemiology Ten cases in eight families have been reported, the majority of a Middle East origin. Parental consanguinity was frequently present.[orpha.net]
  • Epidemiology Ten cases in eight families have been reported, the majority of a Middle East origin. Parental consanguinity was frequently present.[rarediseases.info.nih.gov]
  • Relevant External Links for FAM20C Genetic Association Database (GAD) FAM20C Human Genome Epidemiology (HuGE) Navigator FAM20C Atlas of Genetics and Cytogenetics in Oncology and Haematology: FAM20C No data available for Genatlas for FAM20C Gene Mutations[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • The overlapping imaging signs with chondrodysplasia punctata and the disseminated calcifications give new insights into its pathophysiology.[ncbi.nlm.nih.gov]

Prevention

  • Prevention - Raine syndrome Not supplied. Diagnosis - Raine syndrome Not supplied. Prognosis - Raine syndrome Not supplied.[checkorphan.org]
  • Apoptosis may serve also as a protective mechanism to prevent tumorigenicity elicited by deregulated Myc expression. Sequences of the Myc oncogene have been highly conserved throughout evolution, from Drosophila to vertebrates.[sigmaaldrich.com]
  • Pre-natal and post-natal environment monitoring to prevent non-alcoholic fatty liver disease development. Journal of Hepatology 2017; 67: 451-453. Bhat SK, Beilin LJ, Robinson M, Burrows S, Mori TA.[rainestudy.org.au]

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