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]

Biochemical features at diagnosis are presented in Table 4. [ojrd.biomedcentral.com]

• 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 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]

  Symptoms of MPS IX are periodically painful soft tissue masses around the joints, acquired short stature and erosion of the hip joint, although joint movement and intelligence are normal (Natowicz et al. 1996, Triggs-Raine et al. 1999). [reactome.org]

  0 Reply small extremities.. overall short stature ..saddle nose...s/o achondroplasia(?) [dailyrounds.org]

• Inflammation

  […] retrobulbar hemorrhage with acute optic neuropathy by direct compression or by increased intraocular pressure) * If due to infectious causes, appropriate directed systemic intravenous antibiotic therapy and/or surgical debridement * If due to noninfectious inflammation [checkorphan.org]

  An incidental finding of parotid gland T2 hyperintensity was positively correlated with a history of left parotid gland recurrent inflammation. Fig 2. Patient 1. [ajnr.org]

  It is also referred to as deerfly fever or tularemia. [ read more ] Rabies Rabies is a viral zoonotic neuro-invasive infection that often causes an inflammation of the brain (a condition known as acute encephalitis). [illnessopedia.org]

  Dietary patterns, body mass index and inflammation: pathways to depression and mental health problems in adolescents. Brain, Behaviour and Immunity 2018, 69: 428-439. [rainestudy.org.au]

• Multiple Congenital Anomalies

  The previous early neonatal death of the first sibling who had multiple congenital anomalies suggest possible similar affection, however, this could not be confirmed as no information was available about the nature of the abnormalities. [slideplayer.com]

  Distal arthrogryposis, Marden-Walker syndrome PIGA Multiple congenital anomalies-hypotonia-seizures syndrome PIK3CA CLOVES, Cowden syndrome PITX2 Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly, Ring dermoid of cornea PLOD1 Ehlers-Danlos [genda.com.ar]

• Abnormal Teeth

  High palate, small teeth with enamel dysplasia. [bmcmedgenet.biomedcentral.com]

• Tooth Loss

  An excess of pyrophosphate accumulation results in tooth loss, osteomalacia, and calcification of bones. [bmcmedgenet.biomedcentral.com]

• Macrocephaly

  Verified response THANATOPHORIC DWARFISM - most common lethal form of dwarfism which is caused by gain-of-function mutations in FGFR3 that differ from those in achondroplasia... affected child have micromelic shortening of limbs,frontal bossing,relative macrocephaly [dailyrounds.org]

  Ghosal hematodiaphyseal dysplasia syndrome Genuine diffuse phlebectasia X-linked hypophosphatemia Hemoglobin E disease Pfeiffer Mayer syndrome Thumb deformity Multiple pterygium syndrome lethal type Dandy-Walker malformation with mental retardation, macrocephaly [checkrare.com]

  /autism syndrome 605309 VATER association with macrocephaly and ventriculomegaly 276950 PTH1R 3p21.31 Chondrodysplasia, Blomstrand type 215045 Eiken syndrome 600002 Failure of tooth eruption, primary 125350 Metaphyseal chondrodysplasia, Murk Jansen type [institutobernabeu.com]

  […] lymphangioma, lymphatic, lymphoblastic, lymphocyte, lymphocytes, lymphocytic, lymphoedema, lymphogranuloma, lymphoid, lymphoma, lymphomas, lymphomatoid, lymphoplasmacytic, lymphoproliferative, lyngstadaas, M mac, maccario, mackay, maclean, macrencephaly, macrocephaly [rapsodyonline.eurordis.org]

• 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]

• Large Fontanel

  fontanel * Short neck * Stillbirth * Retarded fetal growth Causes - Raine syndrome Not supplied. [checkorphan.org]

  The baby presented at birth with severe craniofacial anomalies including a wide anterior fontanel, exophthalmos, severe depression of the nasal bridge with a hypoplastic midface, bilateral choanal atresia, and a large protruding tongue. [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]

  […] limbs Prominent forehead, short neck, proptosis, midfacial hypoplasia, depressed nasal bridge, wide anterior fontanelle, exophthalmos, bilateral choanal atresia, large protruding tongue Not Reported Not Reported Al-Gazali et al., 2003 [ 24 ] Simpson [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

  […] a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification. [experts.umn.edu]

  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]

  […] sisters with a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification. [biochem.slu.edu]

  摘要 Raine syndrome is a rare genetic disorder with characteristic features of exophthalmos, choanal atresia or stenosis, osteosclerosis and cerebral calcifications. Most of babies with this disorder die immediately after birth. [gooa.las.ac.cn]

  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]

• Hyperactivity

  The proband was diagnosed with attention deficit hyperactivity disorder (ADHD) with psychomotor developmental delay. [bmcmedgenet.biomedcentral.com]

  […] hyde-forster-mccarthy-berry, hydradenoma, hydranencephaly, hydrocephalus, hydrocephaly, hydrolase, hydrolethalus, hydromelia, hydrometrocolpos, hydronephrosis, hydrops, hydroxykynureninuria, hydroxylysinuria, hydroxymethylglutaricaciduria, hymenolepiasis, hyper, hyper-igd, hyperactivity [rapsodyonline.eurordis.org]

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]

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]

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]

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]

The first line clinical treatment is corticoids (steroids). [scielo.br]

Prognosis - Raine syndrome Not supplied. [checkorphan.org]

In 2007, the etiology emerged as loss-of-function mutation of FAM20C that encodes family with sequence similarity 20, member C. [experts.umn.edu]

Etiology Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. [orpha.net]

Summary Epidemiology Ten cases in eight families have been reported, the majority of a Middle East origin. Parental consanguinity was frequently present. [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.com]

Education MB BCh (Ain Shams University, Egypt) MSc (Ain Shams University, Egypt) Fellow, Neonatal Perinatal Fellowship Program (University of Manitoba, Canada) In progress: MSc, Community Health & Epidemiology (Dalhousie University, Canada) Employment [medicine.dal.ca]

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

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]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

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]