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161 Possible Causes for Large Fontanel, Macroglossia

  • Beckwith-Wiedemann Syndrome

    Facial abnormalities: Large, prominent eyes. Creases in earlobes and pit behind the upper ear. Pinna abnormalities, low-set ears. Raised fontanelle, prominent occiput.[patient.info] Its most common feature is macroglossia, being present in most cases. Clinically macroglossia can compromise the airway, cause dysphagia, drooling and poor cosmesis.[ncbi.nlm.nih.gov] Beckwith Wiedemann syndrome (BWS) is a rare, congenital overgrowth disorder that is characterized by macroglossia, anterior abdominal wall defects, visceromegaly, gigantism[ncbi.nlm.nih.gov]

  • Congenital Hypothyroidism

    […] features include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia[orpha.net] Coarse facies, macroglossia, constipation, and short trunk may become evident either during or beyond the neonatal period.[currentpediatrics.com] Epiphyseal dysgenesis Shortening of long bone Large fontanel and wide suture 19.[slideshare.net]

  • Juvenile Myxedema

    […] frequency of crying Constipation Signs Large fontanelles Myxoedema - with coarse features and a large head and oedema of the genitalia and extremities Nasal obstruction Macroglossia[patient.info] ORAL MANIFESTATIONS Symptoms  Teeth  Jaw bone  Palate  Macroglossia  Lips Radiological features  Skull changes  Air sinuses  Teeth  Jaw bone 11.    Surgery- trans[slideshare.net] Symptoms Feeding difficulties Somnolence Lethargy Low frequency of crying Constipation Signs Large fontanelles Myxoedema - with coarse features and a large head and oedema[patient.info]

  • Transient Congenital Hypothyroidism

    […] frequency of crying Constipation Signs Large fontanelles Myxoedema - with coarse features and a large head and oedema of the genitalia and extremities Nasal obstruction Macroglossia[patient.info] […] development moderately to severely and may be accompanied by low muscle tone, sensorineural hearing loss, prolonged hyperbilirubinemia, umbilical hernia, respiratory distress, macroglossia[msdmanuals.com] fontanel (soft spot) A herniated (protruding) bellybutton Little to no growth, failure to thrive Illustration by Emily Roberts, Verywell Causes There are two main forms of[verywell.com]

  • Glycogen Storage Disease Type 2

    Infantile GSDII presents during the first weeks or months of life with poor feeding, failure to thrive, macroglossia, severe hypotonia, cardiomegaly, mild hepatomegaly, and[genedx.com] fontanels; large, low-set, malformed ears; hypertelorism; down-slanting palpebral fissures; high or prominent forehead; broad or prominent nasal bridge; micrognathia; high[dx.doi.org] Patients have also organomegaly (hepatomegaly, splenomegaly, macroglossia) and feeding difficulties.[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    Additional symptoms may occur including overgrowth (hypertrophy) of the muscles of the legs, an abnormally enlarged tongue (macroglossia), weakness and wasting (atrophy) of[rarediseases.org] They have a typical facial appearance, with a large head, prominent forehead, and wide fontanelle.[healio.com] Affected infants may have a large head with a prominent forehead and wide “soft spot” (fontanelle) and distinctive facial features including an abnormally small jaw (micrognathia[rarediseases.org]

  • Zellweger Syndrome

    Intellectual disability, severe Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ] 0010864 Intrahepatic biliary dysgenesis 0001401 Macroglossia[rarediseases.info.nih.gov] The common clinical findings included high forehead, large fontanelle, shallow orbit ridges, micrognathia, upslanting palebral fissures, epicanthal folds, severe hypotonia[ncbi.nlm.nih.gov] The literature survey did provide criteria for classic Zellweger syndrome, which include hypotonia with or without deformation of limbs, large fontanels and split sutures,[ncbi.nlm.nih.gov]

  • Lipoid Proteinosis

    Additional symptoms included beaded eyelid papules, macroglossia with yellowish papules, yellowish deposits of soft palate, papular eruption in the axillary area and tuberous[histopathology-india.net] Patients exhibit large fontanels, puffy eyelids, short fingers, and blue sclera.[plasticsurgerykey.com] […] shins and upper limbs that may coalesce into thickened plaques A skin biopsy with Congo red stain helps in making the diagnosis Xanthomatosis Myxoedema hoarseness of voice, macroglossia[slideshare.net]

  • Sporadic Goitrous Cretinism

    Cretinism  Fetal or infantile hypothyroidism  Endemic and sporadic  Sporadic –agenesis ,dyshormonogenesis  Hoarse cry, macroglossia, umbilical hernia  Immediate diagnosis[slideshare.net] Clinical Synopsis: Neck: Ectopic thyroid; Hypoplastic thyroid; Thyroid agenesis; Goiter HEENT: Large posterior fontanel; Noisy breathing; Nasal stuffiness; Macroglossia Neuro[genome.jp] Macroglossia may be due to tumor; eg, lymphangioma. The dry skin of ichthyosis may be misleading.[generalhealthtopics.com]

  • Pallister-Killian Syndrome

    The disorder in older children and young adults is characterized by a coarse and flat facies, macroglossia prognathia, everted lower lip, and severe psychomotor retardation[ncbi.nlm.nih.gov] fontanelle For six months, as Jake failed to progress as most infants would, his mother held onto a somewhat painful hope that everything was going to be OK.[greaterbayshore.com] Oro-dental features, such as "Pallister lip," macroglossia, delayed eruption of primary teeth, high arched-palate, prognathism, and cleft palate have been occasionally reported[ncbi.nlm.nih.gov]

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