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207 Possible Causes for Round Face, Short Stature in Children, Umbilical Hernia

  • Mucopolysaccharidosis 2

    The boy’s past history included an umbilical hernia ( Figure 2 ) and chronic otitis media requiring myringotomy tube insertion and adenoidectomy, with conductive hearing loss[consultant360.com] […] 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] The signs and symptoms may include abnormal facial features, cloudy corneas, abnormal development of spine, heart valve defects, and short stature in children A healthcare[dovemed.com]

  • 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] Many children develop a short body trunk and a maximum stature of less than 4 feet.[en.wikipedia.org] 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 1

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] 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] The severe form of MPS I is known as Hurler syndrome or MPS I H : Children affected with the severe form may have mental retardation, short stature, stiff joints, speech and[verywell.com]

  • Aarskog-Scott Syndrome

    Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).The intellectual[en.wikipedia.org] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov] Abstract Aarskog syndrome is a familial condition associated with craniofacial anomalies, genital malformations and short stature.[icvts.oxfordjournals.org]

  • Down Syndrome

    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] Short stature as the major manifestation of celiac disease in older children. Clin Pediatr 1986; 25:13–6. 12. Rossi TM, Kumar V, Lerner A, et al.[journals.lww.com] 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]

  • Growth Failure

    Other findings include seizures (20-35%), congenital heart disease, central nervous system (CNS) abnormalities, umbilical/inguinal hernia, tracheomalacia, situs abnormalities[cyberleninka.org] , a temporal fat pad, round face, diabetes and other symptoms listed below.[csrf.net] […] lead to short stature.[rileychildrens.org]

  • Familial Short Stature

    Typical feature of infants with hypothyroidism include large size, umbilical hernia, prolonged jaundice, poor feeding, hypothermia, myxedema, constipation, and increase height[drhc.ae] face, subcutaneous ossification, brachydactyly Growth hormone ( GH ) deficiencies Caused by hypopituitarism Growth retardation bone density and muscle atrophy Congenital[amboss.com] Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com]

  • Robinow Syndrome

    Umbilical hernia (32.3%) and supernumerary teeth (10.3%) were found exclusively in patients with the dominant form. (c) 2007 Wiley-Liss, Inc.[ncbi.nlm.nih.gov] Facial Abnormalities Rounded face with a broad forehead Widely spaced eyes (hypertelorism) Drooping of the eyelids (ptosis) Downwardly slanting eyelid folds Small nose with[medcaretips.com] Most children with Robinow syndrome experience growth delays after birth, resulting in slight to moderate short stature.[rarediseases.org]

  • Chromosome 18p Deletion Syndrome

    hernia (7%) Coloboma (4%) Eczema (4%) Inguinal hernia (4%) Large protruding forehead (4%) Dysplastic teeth (4%) Delayed fontanel closure (4%) Chorea (3%) Low posterior hairline[en.wikibooks.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] Differential diagnosis Differential diagnosis may include a wide number of syndromes with short stature and mild intellectual deficiency.[orpha.net]

  • Kniest Dysplasia

    hernia 0001537 Showing of 53 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov] Support Groups and Associations There are numerous organizations committed to improving the quality of life of those with short stature such as KND individuals.[brighthub.com] Other features of the disease include the presence of tracheal stenosis, tracheomalacia, blepharoptosis, proptosis, glossoptosis, umbilical or inguinal hernia, and motor delay[symptoma.com]

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