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2,097 Possible Causes for Delayed Speech and Language Development, Dermatan and Heparan Sulfate Excretion in Urine, Round Face

  • 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] […] in the urine of dermatan sulfate and heparan sulfate … Medical dictionary mucopolysaccharidosis IH — (MPS I H) Hurler syndrome … Medical dictionary mucopolysaccharidosis[translate.academic.ru] 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]

  • Mucopolysaccharidosis

    While urine samples from MPS type 6 patients contain large amounts of dermatan sulfate, MPS type 7 is characterized by high urinary levels of heparan, dermatan, and chondroitin[symptoma.com] In detail, patients suffering from MPS types 1 or 2 are likely to excrete abnormal amounts of heparan sulfate and dermatan sulfate.[symptoma.com] MPS type 3 is associated with an increased excretion of heparan sulfate, whereas MPS type 4 manifests in elevated concentrations of chondroitin 6-sulfate and keratan sulfate[symptoma.com]

  • 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: Dermatan and Heparan Sulfate Excretion in Urine
  • Mucopolysaccharidosis 7

    In both MPSIH and MPSII, there is primarily an accumulation of dermatan and heparan sulfates, resulting in their enhanced excretion in the urine.[clinchem.aaccjnls.org]

    Missing: Round Face
  • 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: Dermatan and Heparan Sulfate Excretion in Urine
  • Mucopolysaccharidosis 1

    […] in the urine of dermatan sulfate and heparan sulfate … Medical dictionary mucopolysaccharidosis IH — (MPS I H) Hurler syndrome … Medical dictionary mucopolysaccharidosis[translate.academic.ru] Qualitative and quantitative analyses should be performed; MPS 1 patients typically excrete excess dermatan and heparan sulfate.[symptoma.com] sulfate, heparan sulfate, keratan sulfate, or chondroitin sulfate (glycosaminoglycans: GAGs).[neurology.testcatalog.org]

    Missing: Delayed Speech and Language Development
  • 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: Dermatan and Heparan Sulfate Excretion in Urine
  • 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: Dermatan and Heparan Sulfate Excretion in Urine
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    […] lip vermilion Narrow mouth Delayed speech and language development Cryptorchidism Hypertelorism Tricuspid regurgitation Rare Symptoms - Less than 30% cases Brachydactyly[mendelian.co] The mucopolysaccharidoses (MPSs) are a group of disorders caused by the deficiency of any of the enzymes involved in the stepwise degradation of dermatan sulfate, heparan[mayomedicallaboratories.com] 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]

  • 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: Dermatan and Heparan Sulfate Excretion in Urine

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