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147 Possible Causes for Delayed Speech and Language Development, Prenatal Diagnosis Available, Round Face

  • Mucopolysaccharidosis 2

    Prenatal diagnosis is routinely available by measuring I2S enzymatic activity in amniotic fluid or in chorionic villus tissue.[omicsonline.org] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] If a specific mutation is known to run in the family, prenatal molecular genetic testing can be performed.[en.wikipedia.org]

  • Mucopolysaccharidosis

    […] of prenatal diagnosis.[checkorphan.org] Prenatal diagnosis is routinely available by measuring I2S enzymatic activity in amniotic fluid or in chorionic villus tissue.[omicsonline.org] Tests Available GALNS Gene Sequencing Forms and Documents Test Details Clinical Utility: Confirmation of a biochemical diagnosis Carrier testing Prenatal diagnosis in at risk[genedx.com]

  • Prader-Willi Syndrome

    […] familial deletion, UPD or imprinting error Prenatal diagnosis by targeted array CGH for deletions or UPD only (methylation analysis not available for prenatal).[genedx.com] Speech and language therapy during childhood will help with impaired speech and delay in developing language.[yourhormones.info] (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com]

  • Cri Du Chat Syndrome

    Prenatal diagnosis Chorionic villus sampling at 11 to 12 weeks and amniocentesis at 15 to 16 weeks are available to test for the chromosome 5 deletion in affected families[contact.org.uk] In general, individuals have delayed speech and language development, and some never develop spoken language.[ncbi.nlm.nih.gov] It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure An infantile syndrome characterized[icd9data.com]

  • Dubowitz Syndrome

    There is currently no genetic or biochemical test to confirm a diagnosis of Dubowitz syndrome. Prenatal diagnosis None available. Is there support?[cafamily.org.uk] speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[rarediseases.info.nih.gov] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com]

  • Propionic Acidemia

    Author information 1 Department of Genetics, Fundacion Jimenez Diaz-Capio, CIBERER, Madrid, Spain. abustamante@fjd.es Abstract Prenatal diagnosis (PD) is available to families[ncbi.nlm.nih.gov] It’s not detailed enough to round with 1. Open or select the patient(s) you want 2.[slidex.tips] Tests Available PCCA Gene Sequencing PCCB Gene Sequencing Forms and Documents Test Details Clinical Utility: Confirmation of a biochemical diagnosis Carrier testing Prenatal[genedx.com]

  • Trisomy X Syndrome

    Sex Chromosome Problems Discovered through Prenatal Diagnosis: 47,XXX Syndrome. Available online in PDF format at (updated July 2007; accessed June 11, 2008).[encyclopedia.com] speech and language development, and difficulty reading Delayed motor skills, such as sitting and walking Problems processing sound Behavioral and emotional problems, including[everydayhealth.com] Affected individuals also have distinctive facial features, including widely set eyes, low-set ears, a small jaw and a rounded face.[igeneprenataltest.com]

  • Pallister W Syndrome

    The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling (CVS) and amniocentesis.[ndss.org] face and developmental delay syndrome (disorder) {715987000, SNOMED-CT } Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) {722389002,[phinvads.cdc.gov] Children have a round face, with wide eyebrows and mild synophrys, hypertelorism, a prominent and high nasal bridge with anteverted nostrils, a long philtrum and a thin upper[ojrd.biomedcentral.com]

  • Congenital Malformation of the Knee Joint

    Prenatal diagnosis of congenital genu recurvatum following amniocentesis complicated by leakage.[ncbi.nlm.nih.gov] Obesity, Global developmental delay, Seizures, Short stature, Genu valgum, Deeply set eye, Dysarthria, Delayed speech and language development, Specific learning disability[ncbi.nlm.nih.gov] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de]

  • Chromosome 19q13.11 Deletion Syndrome

    Several different issues must be considered for choosing the more suitable approach to prenatal diagnosis [ 7 ].[omicsonline.org] speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[rarediseases.info.nih.gov] Patient 2 at 8 years of age showing round face with narrow and up-slanting palpebral fissures, thick eyebrows medially sparse, puffy checks, columella below alae nasi, short[nature.com]

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