Symptoma

Isolated Congenital Hypoglossia or Aglossia

Hypoglossia with Situs Inversus

At birth, he presented with a small oral cavity and tongue. At the age of 10-months, his weight, length, and head circumference were below the 3rd percentiles. [cags.org.ae]

[…] if the condition was present at the time of inpatient admission. [icd.codes]

Isolated aglossia, that we presented, is one of the more rare presentations. [casesjournal.biomedcentral.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia [dysnet.org]

  • Fatigue

    Hypercholesterolemia Wide pubic symphysis Abdominal distention Pituitary hypothyroidism Severe postnatal growth retardation Hypopituitarism Hypoparathyroidism Intellectual disability, progressive Large fontanelles Sleep disturbance Narcolepsy Jaundice Fatigue [mendelian.co]

    […] syndrome 2016 2017 2018 2019 Billable/Specific Code Applicable To Benign myalgic encephalomyelitis Type 1 Excludes chronic fatigue syndrome NOS ( R53.82 ) Alactasia, congenital E73.0 ICD-10-CM Diagnosis Code E73.0 Congenital lactase deficiency 2016 2017 [icd10data.com]

  • Multiple Congenital Anomalies

    SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome Related symptoms: Autosomal dominant inheritance Intellectual disability Global developmental delay Short stature Generalized [mendelian.co]

    congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS 759.8 Other specified anomalies 759.81 Prader-Willi syndrome 759.82 Marfan syndrome 759.83 Fragile X syndrome 759.89 Other Congenital malformation syndromes [theodora.com]

  • Developmental Delay

    SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome Related symptoms: Autosomal dominant inheritance Intellectual disability Global developmental delay Short stature Generalized [mendelian.co]

    Kantapura et al described a case where aglossia was associated with developmental delay in milestones, hypothyroidism, microcephaly, microsomia, collapse of mandibular arch, congenital absence of mandibular teeth along with persistence of buccopharangeal [casesjournal.biomedcentral.com]

  • Microstomia

    Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypoplastic mandibula / partial absence of the mandibula - Low set ears / posteriorly rotated ears - Microglossia / aglossia / hypoglossia / tongue hypoplasia - Micropenis / small penis / agenesis - Microstomia [csbg.cnb.csic.es]

    May occur as – An isolated disorder – Association with other congenital deformities like microstomia, micrognathia. 7 2- Microglossia A condition where the size of the tongue is abnormally small. [slideplayer.com]

    […] cyst 744.49 Other Fistula (of): auricle, congenital cervicoaural 744.5 Webbing of neck Pterygium colli 744.8 Other specified anomalies of face and neck 744.81 Macrocheilia Hypertrophy of lip, congenital 744.82 Microcheilia 744.83 Macrostomia 744.84 Microstomia [theodora.com]

  • Fissured Tongue

    May be associated with fissured tongue. [slideplayer.com]

    FISSURED TONGUE : FISSURED TONGUE Relatively common condition. Numerous grooves or fissures are present on dorsal surface of tongue. Cause uncertain, but heredity plays an important role. [authorstream.com]

  • Low Set Ears

    He had large and low-set ears, small mouth and oral cavity, high and narrow palatal arch and a rudimentary tongue. The lower alveolar ridge was prominent. He had right-sided apex beat, but there were no murmurs. [cags.org.ae]

    set ears / posteriorly rotated ears - Microglossia / aglossia / hypoglossia / tongue hypoplasia - Micropenis / small penis / agenesis - Microstomia / little mouth - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia [csbg.cnb.csic.es]

    Ambiguous genitalia Oral cleft Wormian bones Abnormality of the genitourinary system Phimosis Micropenis Macrocephaly Scoliosis Micrognathia Motor delay Pulmonary hypoplasia Epicanthus Bilateral cleft lip Growth hormone deficiency Wide anterior fontanel Low-set [mendelian.co]

TREATMENT & PROGNOSIS : TREATMENT & PROGNOSIS Treatment is multidisciplinary, involving Pediatrician, Otolaryngologist, Oral & maxillofacial surgeon, Pedodontist, Plastic surgeon, speech therapist and genetic counselor. [authorstream.com]

Treatment for this condition varies because it depends on the signs and symptoms present in ... 4 ... [familydiagnosis.com]

Pierre Robin sequence treatment. In: Cleft – Ultimate Treatment. 2 nd ed. Durban: Reach Publisher; 2016. p. 337-65. 5. Fairbairn P. Suffocation in an infant from retraction of the base of the tongue. Month J Med Sci 1846;6:280-1. 6. [amsjournal.com]

[…] plan can be designed. [12] In cases of isolated microglossia, such as ours, distraction osteogenesis and orthodontic intervention are the mainstay of treatment. [13] There is still no consensus on the timing of treatment but orthodontic treatment should [jmedsoc.org]

Complete and isolated congenital aglossia: case report and treatment of sequelae using rapid prototyping models. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, Vol. 105, Issue. 3, p. e41. [cambridge.org]

TREATMENT & PROGNOSIS : TREATMENT & PROGNOSIS Treatment is multidisciplinary, involving Pediatrician, Otolaryngologist, Oral & maxillofacial surgeon, Pedodontist, Plastic surgeon, speech therapist and genetic counselor. [authorstream.com]

In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia [dysnet.org]

The prognosis seems to be graver as the number of malformations increases. Infants with faciocardiomelic syndrome do not live for more than 3 weeks. [jmedsoc.org]

Thus, corroborating above statements that hypoglossia with limb anomalies has a poor prognosis. Tongue is the most agile, adept and versatile appendage in the human body. [ijdr.in]

Cell injury is the effect of a variety of stresses due to etiologic agents a cell encounters resulting in changes in its internal and external environment. Cellular ... [jaypeedigital.com]

The etiology of this uncommon syndrome remains unknown and environmental and genetic factors are studies (2). [arquivosdeorl.org.br]

Other names: wandering rash, erythema migrans or glossitis areata exfoliativa & benign migratory glossitis. 14 Geographic Tongue Etiology &pathogenesis The exact cause for the condition remains unknown It tends to occur with more intensity in cases of [slideplayer.com]

ETIOLOGY : ETIOLOGY Cause is still being debated. Important to distinguish between isolated clefts and clefts associated with developmental syndromes. [authorstream.com]

The etiology is unclear. The deformity is probably due to disruptions during the critical period of embryonic limb development, between 4th and 7th week of gestation. [dysnet.org]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

[…] syndrome Synonym(s): (no synonyms) Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

A large database of 266 labeled PRS cases was screened for clinical description, history, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and early management. [amsjournal.com]

0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [medicbind.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

[…] from gagging sensation, when the papillae touch the soft palate. 30 31 8-Tongue-Tie (Ankyloglossia) The lingual frenulum is attached close to the tongue tip, resulting in reduced tongue movement. 32 Ankyloglossia caused by short lingual frenulum that prevents [slideplayer.com]

The renal and growth affection can as well be prevented or enhanced, but the progression of liver impairment cannot be refrained (1). [arquivosdeorl.org.br]

Soft solids: entire mandible appears to fill up maxillary space so there is close contact with mylohyoid and hard palate. possibly to allow mylohyoid contract to keep the bolus at center of oral cavity during mastication and prevent slippage into sulci [dysphagiacafe.com]