Create issue ticket

589 Possible Causes for Congenital Fractures, Homocystinuria

  • Marfan Syndrome

    , genu recurvatum, talipes equinovarus, metatarsus adductus, congenital bowing of the ribs and long bones, and hypoplastic hooked clavicles have also been reported [ Adès[ncbi.nlm.nih.gov] […] described in 1896 by Antoine Bernard-Jean Marfan , French pediatrician (1858-1942). patients with Loeys-Dietz syndrome have similar features to Marfan syndrome patients with homocystinuria[radiopaedia.org] There are a wide variety of inherited disorders that are treatable through nutrition, including homocystinuria, a disorder with overlapping features to Marfan syndrome.[ctds.info]

  • Osteogenesis Imperfecta Type 2

    His first fracture occurred before 1 year of age (no congenital fractures were apparent) and the last at the age of 40 years (total of 20 fractures).[karger.com] […] rickets Osteochondromatosis Secondary osteoporosis (immobilization) Rickets Scurvy Leukemia Cushing syndrome Nonaccidental injury" Adolescence/Adulthood "Mafucci syndrome Homocystinuria[physio-pedia.com] Congenital anterolateral radial head dislocation. Ossification of IOM between radius and ulna and tibia and fibula Type VI Moderate severity.[orthobullets.com]

  • Lens Dislocation

    Verrenkungsbruch [m] 88 Medicine dislocation of the lens Augenlinsenvorfall [m] 89 Medicine compound/complicated dislocation komplizierte Dislokation 90 Medicine congenital[termbank.com] The ocular findings in patients with homocystinuria due to cystathionine-beta-synthetase (CBS) deficiency are reviewed and a new approach to lens surgery is presented.[ncbi.nlm.nih.gov] The authors describe recurrent lens dislocation into the anterior chamber in a young girl with homocystinuria.[ncbi.nlm.nih.gov]

  • Disorder of Sulfur-Bearing Amino Acid Metabolism

    مألوفة abdomen abnormal Abscess abuse acquired acute ankle artery benign Bite bone brain breast cardiac cell cerebral cervical cervix chronic complication NEC condition congenital[books.google.com] Homocystinuria, hereditary metabolic disorder involving methionine, a sulfur-containing essential amino acid.[britannica.com] See also Cystinuria Hyperhomocysteinemia External links Homocystinuria Support GeneReview/NIH/UW entry on Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency Paper[dictionnaire.sensagent.leparisien.fr]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome.[arthritisresearch.us] Methylmalonic acidemia Methylmalonic aciduria microcephaly cataract Methylmalonicacidemia with homocystinuria, cbl D Methylmalonicaciduria with homocystinuria, cbl F Methylmalonicaciduria[en.wikipedia.org] […] abnormalities Trisomy 2 mosaicism Epidermolysis bullosa Spondylometaphyseal dysplasia corner fracture type PHACE syndrome 47 XXX syndrome Immune defect due to absence of[checkrare.com]

  • Melhem-Fahl Syndrome

    Bone Fractures 24 51 OST022 Osteopathia Striata with Cranial Sclerosis 49 52 SCH072 Scheuermann Disease 39 53 MJD001 Majeed Syndrome 34 54 P NGT001 Negative Rheumatoid Factor[malacards.org] Methylmalonic acidemia Methylmalonic aciduria microcephaly cataract Methylmalonicacidemia with homocystinuria, cbl D Methylmalonicaciduria with homocystinuria, cbl F Methylmalonicaciduria[statemaster.com] Methylmalonic aciduria microcephaly cataract Methylmalonicacidemia with homocystinuria, cbl D Methylmalonicaciduria with homocystinuria, cbl F Methylmalonicaciduria, vitamin[mindmappedia.com]

  • Tryptophanemia

    […] and lesions, thrombocytopenia, or a family history of Gaucher disease Homocysteine (Nutritional and Congenital) Test Code: 36362 Clinical Use: Diagnose homocystinuria; monitor[questdiagnostics.com] […] minimizing possible complications. 5-OXOPROLINURIA (MIM 260005) A GLUTARIC ACIDEMIA TIPO I (MIM 231670) A ISOVALERIC ACIDEMIA (MIM 243500) A METHILMALONIC ACIDEMIA WITH HOMOCYSTINURIA[cdemac.es] Galactosemia , Glutaric aciduria type 1, Glutaric aciduria type 2, Glutathionuria, Glycerol Kinase deficiency, Hartnup disease, Hawkinsunuria, Histidinemia, Histidinuria, Homocystinuria[geno.ma]

  • Osteoporosis

    , and fractures.[ncbi.nlm.nih.gov] - Multiple myeloma, thalassemia, leukemia, lymphoma, hemophilia, sickle cell disease, systemic mastocytosis Genetic disorders - Cystic fibrosis, osteogenesis imperfecta, homocystinuria[web.archive.org] Genetic disorders - Marfan syndrome, osteogenesis imperfecta, hypophosphatasia, cystic fibrosis, glycogen storage diseases, hemochromatosis, and homocystinuria are examples[symptoma.com]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    271640 615291 Autosomal recessive B4GALNT1 12q13.3 Spastic paraplegia 26, autosomal recessive 609195 601873 Autosomal recessive B4GALT1 9p21.1 Congenital disorder of glycosylation[mnglabs.com] Disease Type of connection Autosomal recessive primary microcephaly Dedifferentiated liposarcoma Familial melanoma Well-differentiated liposarcoma Methylmalonic acidemia with homocystinuria[csbg.cnb.csic.es] […] due to MTHFR deficiency, 236250 CBS-CEL Homocystinuria, B6-responsive and nonresponsive types, 236200 MMADHC Homocystinuria, cbID type, 277410 MTRR Homocystinuria-megaloblastic[gsdseq.ir]

  • Deviated Nasal Septum

    Turbinate hypertrophy from a Deviated Septum Is a deviated nasal septum congenital? Was this something I got from my parents?[nycfacemd.com] Deviated septum is associated with genetic connective tissue disorders such as Marfan syndrome, Homocystinuria and Ehlers–Danlos syndrome.[en.wikipedia.org] It also has a significant appearance as a normal family trait or with genetic conditions such as Ehler-Danlos syndrome, Homocystinuria, and Marfan syndrome.[sinussurgeryprocedure.com]

Further symptoms

Similar symptoms