Create issue ticket

2,118 Possible Causes for Delayed Speech and Language Development, Mucoid Nasal Discharge, Round Face

  • Mucopolysaccharidosis

    Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…][ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    […] 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] Coarsening of facial features – the result of macroglossia, prominent supraorbital ridges, a broad nose, a broad nasal bridge, and deposition of GAG in the soft tissues of the face[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]

    Missing: Mucoid Nasal Discharge
  • 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]

    Missing: Mucoid Nasal Discharge
  • Cri Du Chat Syndrome

    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] face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia.[ncbi.nlm.nih.gov]

    Missing: Mucoid Nasal Discharge
  • 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]

    Missing: Mucoid Nasal Discharge
  • 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]

    Missing: Mucoid Nasal Discharge
  • 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]

    Missing: Mucoid Nasal Discharge
  • Wiedemann-Steiner 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] Polydactyly Sacral dimple Syndactyly Stereotypy Abnormality of the skeletal system Short palpebral fissure Hearing impairment Round face Highly arched eyebrow Dysphagia Long[mendelian.co] […] and flat face, facial asymmetry with right/left hemi-hypoplasia, dolichocephaly, telecanthus, thick eyebrows, mild synophrys, short nose, hypertelorism, long philtrum, heavy[bredagenetics.com]

    Missing: Mucoid Nasal Discharge
  • Propionic Acidemia

    It’s not detailed enough to round with 1. Open or select the patient(s) you want 2.[slidex.tips] Do the same as above but select “Detailed Worklist Custom 0525b” Face Sheet This is good for entering patients in the ACGME log.[slidex.tips]

    Missing: Mucoid Nasal Discharge

Similar symptoms