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46 Possible Causes for Round Face, Spinal Cord Compression, Umbilical Hernia

  • Mucopolysaccharidosis

    The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[news-medical.net] Spinal cord compression (SCC) is a known complication of mucopolysaccharidosis type VI (MPS VI) secondary to atlantoaxial subluxation, craniovertebral stenosis, posterior[ncbi.nlm.nih.gov] Children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen[ghr.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Often, the first symptoms of Hunter syndrome may include inguinal or umbilical hernias, ear infections, runny noses and frequent upper respiratory infections.[onepath.com] […] hearing impairment, sleep apnoea, hydrocephalus, carpal tunnel syndrome, spinal cord compression and cervical myelopathy.[touchneurology.com] […] and inguinal hernia, diarrhea, developmental delay, and intellectual disability.[symptoma.com]

  • Mucopolysaccharidosis 1

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Stiffened joints Skeletal (bone) Carpal tunnel syndrome Heart (valve) disease Recurrent upper airway infections Lung disease/sleep apnea Corneal clouding Spinal cord compression[mps1disease.com] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com]

  • Down Syndrome

    Intubation or neck extension can compress the spinal cord in patients with craniocervical instability.[ncbi.nlm.nih.gov] Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[verywell.com]

  • Weaver Syndrome

    hernia, and hoarse low-pitched cry.[ncbi.nlm.nih.gov] MRI's demonstrated stenosis of the cervical spine but no evidence of spinal cord compression. All three had broad femoral necks.[nature.com] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net]

  • Trisomy 20p

    * Large ears * Mental deficiency * Poor coordination * Reduced muscle tone * Tremor * Umbilical hernia * Widely spaced eyes Prevention - Chromosome 20- duplication 20p Not[checkorphan.org] Cord Compression Spinal Cord Infarction Spinal Damage Syringomyelia Tetraplegia Transverse Myelitis Category 5 ACQUIRED NEUROLOGICAL CONDITIONS Acquired Brain Injury Adhesive[bladderbowel.gov.au] A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment[ncbi.nlm.nih.gov]

  • McCune-Albright Syndrome

    Kyphotic deformity and spinal cord compression may occur.[emedicine.medscape.com] In Carter's case, a Type Ia condition causes short stature, round face and short hand bones.[abcnews.go.com] Short stature, round face, shortened metacarpals and metatarsals, difficulty in walking.[whonamedit.com]

  • Pancreatoblastoma

    Clinical examination disclosed somatic hemihypertrophy (left side), a large umbilical hernia, macroglossia, and an intraabdominal tumor, consistent with the diagnosis of Beckwith-Wiedemann[ncbi.nlm.nih.gov] AFP two months after surgery was 24.49 ng/mL, during follow-up (7 months after surgery) he developed Spinal Cord Compression Syndrome and Radiotherapy was given as palliation[pancreas.imedpub.com] Round face and thin arms and legs. Feeling very tired and weak. High blood pressure. Purple or pink stretch marks on the skin.[emedicinehealth.com]

  • Aagenaes Syndrome

    Umbilical hernia (where the belly button sticks out) and inguinal hernia (swelling in the groin from a weakness in the abdominal wall) are also common.[cafamily.org.uk] A minority of affected persons will have spinal cord compression, usually in the neck, causing pain or injury to peripheral nerves.[encyclopedia.com] Short stature, round face, and hypertelorism. Cervical hypermotility and odontoid subluxation.[accessanesthesiology.mhmedical.com]

  • Osteogenesis Imperfecta

    Common problems also include the development of bowing of the legs, curvature of the spine ( scoliosis and kyphosis ), umbilical and inguinal hernias and mild mitral valve[medicinenet.com] Retrospective. 172 patients irradiated for spinal cord compression. RT short (8/1 or 20/5) or long (30/10, 37.5/15, 40/20).[en.wikibooks.org] faces cases of OI type VIII are similar to OI types II or III in appearance and symptoms except for white sclerae Additional forms of OI The following conditions are rare[radiopaedia.org]

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