Possible Causes for Protruding Abdomen Congenital Generalized Lipodystrophy Type 4 Protruding abdomen, marked umbilical prominence, mild generalized loss of subcutaneous fat, and hypertrophic buttock and lower limb muscles are shown. [bmcmedgenet.biomedcentral.com] When next seen at 3 years 4 months, the boy had a protruding abdomen, a marked umbilical prominence, mild generalized loss of subcutaneous fat and no acanthosis nigricans [bmcmedgenet.biomedcentral.com] Portal Hypertension Someone with massive ascites will have a protruding or swollen abdomen, often with thin legs and arms, due to muscle loss because of liver disease and malnutrition. [vascularcures.org] People with ascites often have a harder time being active because of the weight of the fluid and the large size of their abdomen. [vascularcures.org] Abetalipoproteinemia abdomen Slurred speech Stool abnormalities, including fatty stools that appear pale in color, frothy stools, and abnormally foul-smelling stools Treatment involves large [nlm.nih.gov] abdomen Slurred speech Stool abnormalities, including: Fatty stools that appear pale in color Frothy stools Abnormally foul-smelling stools Signs and tests There may be damage [coordinatedhealth.com] Decreased vision that gets worse over time Developmental delay Failure to thrive (grow) in infancy Muscle weakness Poor muscle coordination that usually develops after age 10 Protruding [nlm.nih.gov] Thoracolaryngopelvic Dysplasia The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. [rarediseases.info.nih.gov] Endemic Cretinism Other symptoms include thickened skin, enlarged tongue or a protruded abdomen. It also causes goitre. [differencebetween.info] It is marked by a number of abnormal effects, such as myxedematous (dry) skin, infrequent hair and a protruding abdomen. [primehealthchannel.com] Other signs may include thickened skin and a protruding abdomen. Sporadic and genetic cretinism results from abnormal development or function of the fetal thyroid gland. [psychology.wikia.com] Fanconi-Bickel Syndrome Growth retardation and hepatosplenomegaly resulting in a protruding abdomen are evident by early childhood. Puberty is delayed. [orpha.net] Schimke Immunoosseous Dysplasia Additional features include excessive inward curvature of the lumbar spine, a protruding abdomen, and hyperpigmented macules on the trunk and occasionally on the neck, face [cags.org.ae] We describe a girl, 5 years old, with short-trunk type of dwarfism (height 75 cm, below 3rd centile), short neck, accentuated lumbal lordosis and protruding abdomen. [scholars.duke.edu] Additional features include excessive inward curvature of the lumbar spine (lumbar lordosis, 84%), a protruding abdomen, and hyperpigmented macules (85%) on the trunk and [rarediseases.org] Sporadic Goitrous Cretinism Dry skin * Enlarged tongue * Flattened nose * Growth failure * Hypothyroidism * Lethargy * Mental retardation * Protruding abdomen * Thick skin * Waxy skin Prevention - Cretinism [checkorphan.org] Other signs may include thickened skin, enlarged tongue, or a protruding abdomen. [en.wikipedia.org] Affected children have a large head, short limbs, puffy eyes, coarse hair, a round abdomen, a thick and protruding tongue with drooling, excessively dry skin, lack of coordination [medical-dictionary.thefreedictionary.com] Omphalocele […] the umbilical cord, and allows the intestines to protrude through the abdomen how is a diagnosis of omphalocele and / or gastroschisis made -elevated alpha-fetoprotien levels [quizlet.com] Some infants have only a small portion of the intestine protruding from the abdomen, and others are born with their entire intestine, along with other abdominal organs such [childrens.com] Through this opening, loops of bowel (and sometimes stomach, liver and other organs) protrude outside the abdomen. [med.unc.edu] Paraomphalocele Gastroschisis is a congenital birth defect in which the viscera protrude from the abdomen. [infobloom.com] Associated abnormalities, particularly involving the heart, are common … Gastroschisis is a condition where the intestine protrudes from the abdomen through a hole in the [ibis-birthdefects.org] Abdominal wall defects are a type of congenital defect that allows the stomach, the intestines, or other organs to protrude through an unusual opening that forms on the abdomen [mahlzeit.it] Short Rib-Polydactyly Syndrome Type Majewski Associated anomalies include protruding abdomen, brachydactyly, peculiar faces, hypoplastic epiglottis, cardiovascular defects, renal cysts, and also genital anomalies. [wikiwand.com] Epigastric Hernia An epigastric hernia happens when a weakness in the abdominal muscle allows the tissues of the abdomen to protrude through the muscle. [patientslikeme.com] They represent fat protruding from inside the abdomen through small defects in the thick covering (fascia) between the two big abdominal muscles and are noticeable when the [bchphysicians.org] This weakness allows the tissues inside the abdomen to protrude, resulting in a bulge. [surgery.ucsf.edu] Glycogen Storage Disease Type 3 This causes liver enlargement and the protruding abdomen that is associated with the disease. [encyclopedia.com] Majority of the cases with hepatic involvement present with protruded abdomen because of gross hepatomegaly and also have raised serum aminases and serum cholesterol. [indianpediatrics.net] Common symptoms include: Protruding abdomen from an enlarged liver and seizures from low blood sugar are common in infants Signs of low blood sugar including Paleness Irritability [cancercarewny.com] Abdominal Hernia As the organ in the abdomen protrudes through the weakened area in the abdominal wall, it causes a bulge in the area as well as pain, fever, blood in the stool and other symptoms [newyorksurgicalpartners.com] […] above the hernia, pushes any protruding intestine back into the abdomen and repairs the opening in the muscle wall. [hopkinsmedicine.org] Symptoms The most common sign of an abdominal hernia is a protruding bulge in the abdomen or groin that may or may not be painful. [losangelesherniacenter.com] Spondylocostal Dysostosis ISSN 1665-5796 Resumen Dysostosis spondylothoracic, or Jarcho Levin syndrome, is characterized by a short neck and thorax, a protruding abdomen, abnormal vertebral segmentation [eprints.uanl.mx] abdomen * Small chest cavity Causes - Jarcho-Levin syndrome * Ankylosing spondylarthritis * Axial mesodermal dysplasia spectrum * Bladder Exstrophy-Epispadias-Cloacal Exstrophy [checkorphan.org] At birth, the diagnosis is suspected in a neck and a short trunk and thorax, a protruding abdomen, rib anomalies and vertebral defects as hemivertebrae, often associated with [omicsonline.org] Iodine Deficiency Goiter These children have: Protruding abdomen Delayed bone maturation and delayed tooth eruption Delayed puberty Flattened nose Neurological impairment : seen early as delayed speech [rachel.golearn.us] Amelia of Upper Limb The body wall defects allow internal organs to protrude through the abdomen. Head malformations may be minor to severe with a near absence of the brain. [en.wikipedia.org] Glycogen Storage Disease Type 1 Growth retardation and hepatosplenomegaly resulting in a protruding abdomen are evident by early childhood. Puberty is delayed. [orpha.net] An enlarged liver may give the appearance of a protruding abdomen. The kidneys may also be enlarged. [ghr.nlm.nih.gov] Common symptoms include: Protruding abdomen from an enlarged liver and seizures from low blood sugar are common in infants Signs of low blood sugar including Paleness Irritability [cancercarewny.com] Glycogen Storage Disease Type 4 This causes liver enlargement and the protruding abdomen that is associated with the disease. [encyclopedia.com] Common symptoms include: Protruding abdomen from an enlarged liver and seizures from low blood sugar are common in infants Signs of low blood sugar including Paleness Irritability [cancercarewny.com] Classic symptoms include a protruding abdomen due to enlarged liver, delay in growth with childhood short stature, and delayed motor development. [encyclopedia.com] Mucopolysaccharidosis Type 6 In more severe cases, children also develop a protruding abdomen and forward-curving spine. [en.wikipedia.org] Gastroschisis Through this opening, loops of bowel (and sometimes stomach, liver and other organs) protrude outside the abdomen. [med.unc.edu] Much of the midgut is temporarily herniated (protruded) outside the abdomen at the umbilicus (belly button). [medicinenet.com] Through this opening protrudes part of the intestines which are not covered by peritoneum (the membrane that normally lines the inside of the abdomen). [medicinenet.com] Glycogen Storage Disease Type 0 abdomen due to hepatomegaly Hepatic adenoma in teens (75%) with 10% becoming malignant Pancreatitis Nephrolithiasis Hypoglycemia that can lead to seizures or coma Lactic [quizlet.com] Common symptoms include: Protruding abdomen from an enlarged liver and seizures from low blood sugar are common in infants Signs of low blood sugar including Paleness Irritability [wmhs.com] […] in glucose-6-phosphatase (can't remove phosphate from glucose-6-P; can't mobilize glycogen to glucose for peripheral tissues) Type B: defect in G6P transporter Symptoms: Protruding [quizlet.com] Immuno-Osseous Dysplasia We describe a girl, 5 years old, with short-trunk type of dwarfism (height 75 cm, below 3rd centile), short neck, accentuated lumbal lordosis and protruding abdomen. [scholars.duke.edu] Additional features include excessive inward curvature of the lumbar spine (lumbar lordosis, 84%), a protruding abdomen, and hyperpigmented macules (85%) on the trunk and [rarediseases.org] This causes an increased risk for infections, which can be life-threatening.[2] Other signs and symptoms may include:[2] Reduced thyroid function Protruding abdomen Patches [rarediseases.info.nih.gov] Short Stature and Facio-Auriculo-Thoracic Malformations Protruding abdomen with hepatosplenomegaly. Vertebral anomalies and lumbar lordosis, platyspondyly. [sites.uclouvain.be] At birth: short trunk and limbs; small chest with short ribs and protruding abdomen; hypertelorism, flat face and cleft palate. [sites.uclouvain.be] Mucopolysaccharidosis Type 7 abdomen and inguinal or umbilical hernia in the extremities: talipes, an underdeveloped ilium, aseptic necrosis of femoral head, and shortness of tubular bones occurs in [en.wikipedia.org] […] nostril bridge in the mouth and oral areas: prominent alveolar processes and cleft palate in the thorax: usually pectus carinatum or exacavatum and oar-shaped ribs; also a protruding [en.wikipedia.org] Spondyloepimetaphyseal Dysplasia Type SPONASTRIME Spondyloepiphyseal dysplasia is a form of skeletal dysplasia mainly involving the spine and proximal epiphyses. short neck short trunk with protruding abdomen normal IQ spine [radiopaedia.org] Protruding abdomen with hepatosplenomegaly. Vertebral anomalies and lumbar lordosis, platyspondyly. [sites.uclouvain.be] At birth: short trunk and limbs; small chest with short ribs and protruding abdomen; hypertelorism, flat face and cleft palate. [sites.uclouvain.be] Spondyloepimetaphyseal Dysplasia Type Strudwick abdomen * Delayed growth * Delayed motor milestones * Lax joints * Inability to fully extend elbows * Coxa vara * Knock-knee * Lordosis * Hemangioma * Hernia * Foot malformations [checkorphan.org] Spondyloepiphyseal dysplasia is a form of skeletal dysplasia mainly involving the spine and proximal epiphyses. short neck short trunk with protruding abdomen normal IQ spine [radiopaedia.org] Strudwick syndrome * Short trunk * Short extremities * Broad nose * Flat nose * Eye problems * Severe nearsightedness * Impaired breathing * Enlarged liver * Enlarged spleen * Protruding [checkorphan.org] Pelviscapular Dysplasia The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. [rarediseases.info.nih.gov] Severe Short Stature abdomen. [ncbi.nlm.nih.gov] […] lethal skeletal dysplasia characterized by fetal akinesia, shortening of all long bones, multiple contractures, rib anomalies, thoracic dysplasia, pulmonary hypoplasia and protruding [ncbi.nlm.nih.gov] Short trunk (short neck, small chest and protruding abdomen): eg Morquio's syndrome, metatrophic dysplasia, spondylo-epimetaphyseal dysplasia. [patient.info] Solitary Renal Cyst abdomen due to renal enlargement ; or hepatomegaly Extrarenal manifestations Severe in-utero renal impairment → maternal oligohydramnios → Potter sequence Obligate liver [amboss.com] […] classification References: [3] [1] Clinical features Autosomal recessive polycystic kidney disease ( ARPKD ) Chronic renal failure ; : frequently hematuria, proteinuria Protruding [amboss.com]