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162 Possible Causes for Delayed Speech and Language Development, Round Face

  • Mucopolysaccharidosis

    BACKGROUND: Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase. We evaluated the effect of enzyme-replacement therapy with recombinant human alpha-L-iduronidase in patients with this disorder. METHODS: We treated 10 patients with mucopolysaccharidosis I[…][ncbi.nlm.nih.gov]

  • Prader-Willi Syndrome

    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] […] or language disorder 759.8 Other specified anomalies 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS References Jin, D.K. et al.[genedx.com]

  • Mucopolysaccharidosis 2

    Two patients with a complete deletion of the iduronate-2-sulphatase (IDS) gene are described. In both patients, the resulting phenotype was that of very severe Hunter syndrome (mucopolysaccharidosis II). In addition, both had features not commonly seen in this disorder, e.g. early onset of seizures in one patient[…][ncbi.nlm.nih.gov]

  • Chromosome 18p Deletion Syndrome

    Speech/Language delay Mostly all individuals with 9p deletions have a significant speech and language delay.[9pminus.org] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org] development Mild speech delays Delay in emergence of language Delayed motor skills development Palatal anomalies Cleft lip and palate Cleft palate Velopharyngeal incompetence[chop.edu]

  • Neuhauser Syndrome

    BRAIN MYELINATION NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia,[rgd.mcw.edu] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and[omim.org]

  • Pallister W Syndrome

    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] […] syndrome (disorder) {720639008, SNOMED-CT } Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) {770625006, SNOMED-CT } Congenital heart defect with round[phinvads.cdc.gov]

  • Dubowitz Syndrome

    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] The face is small and often triangular in shape with a pointed, receding chin. The nose is broad with a wide or rounded tip.[poandpo.com]

  • Acrodysostosis

    speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[rarediseases.info.nih.gov] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Scoliosis Abnormal curving of the spine 0002650 Short metacarpal Shortened long bone of hand[rarediseases.info.nih.gov] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Scoliosis Abnormal curving of the spine 0002650 Short palm 0004279 Short phalanx of finger[rarediseases.info.nih.gov]

  • Cri Du Chat Syndrome

    In general, individuals have delayed speech and language development, and some never develop spoken language.[ncbi.nlm.nih.gov] face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia.[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]

  • Geleophysic Dysplasia

    She has severe speech and language delays, she's diagnosed of having dyspraxia with abnormal phonetation & major sentence structure errors, She's functioning about 5 years[angelfire.com] face with full cheeks.[ncbi.nlm.nih.gov] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Seizures Seizure 0001250 Short foot Short feet Small feet [ more ] 0001773 Short long bone[rarediseases.info.nih.gov]

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