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268 Possible Causes for Round Face, Short Stature in Children

  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] We report three cases of primary osteoma cutis in children, two of whom (siblings) were associated with Albright's hereditary osteodystrophy (AHO), manifesting as short stature[ncbi.nlm.nih.gov] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[symptoma.com]

  • Mucopolysaccharidosis

    Many children develop a short body trunk and a maximum stature of less than 4 feet.[en.wikipedia.org] Affected children may also have an abnormally large head (macrocephaly), a short neck and broad chest, delayed tooth eruption, progressive hearing loss, and enlargement of[rarediseases.org] Other symptoms include short stature, some skeletal irregularities, joint stiffness and restricted movement, and umbilical and/or inguinal hernias.[en.wikipedia.org]

  • Mucopolysaccharidosis 2

    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] MPS IIA Common presenting signs and symptoms in children with classic MPS IIA include progressive coarsening of facial features, short stature, joint stiffness, hepatosplenomegaly[emedicine.medscape.com] Children with MPS II grow steadily until about age 5, and then their growth slows and they develop short stature.[ghr.nlm.nih.gov]

  • Prader-Willi Syndrome

    (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com] In our case diagnosis of PWS was delayed because mental retardation, hypotonia, obesity and short stature were initially attributed to hypothyroidism.[ncbi.nlm.nih.gov] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[fpnotebook.com]

  • Mucopolysaccharidosis 1

    Corneal clouding and cognitive impairment develop, as well as cessation of growth, causing short stature. Joint stiffness and contractures limit mobility.[patient.info] 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] Many children develop a short body trunk and a maximum stature of less than 4 feet.[wikidoc.org]

  • Zellweger Syndrome

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] Small lung Underdeveloped lung [ more ] 0002089 Renal cortical microcysts 0004734 Rocker bottom foot Rocker bottom feet Rocker-bottom feet Rockerbottom feet [ more ] 0001838 Round[rarediseases.info.nih.gov]

  • Vitamin D Deficiency

    NIWA provides a year round daily guide of the UV throughout New Zealand.[health.govt.nz] However optimal vitamin D can still be produced in a few minutes if at least the face, arms and legs are exposed.[health.govt.nz] Between September and April , sun protection is recommended (shade, clothing coverage and a hat that shades the face and neck, sunscreen and sunglasses), especially between[health.govt.nz]

  • Cushing's Disease

    It usually manifests as endocrinological deficits such as short stature, delayed puberty, and obesity.[ncbi.nlm.nih.gov] A 39-year-old woman with a 3-year history of a rounded face developed widespread myalgia.[ncbi.nlm.nih.gov] Weak bones Extra fat around neck Acne Round face Balding (women) Fatigue Hip and shoulder weakness Poor concentration Swelling of feet/legs Menstrual irregularity Diabetes[pituitarysociety.org]

  • Cri Du Chat Syndrome

    face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia.[ncbi.nlm.nih.gov] Babies Characteristic high pitched cry at birth Low birth weight Poor muscle tone Developmental delay Small head Round "moon" face Children Small thin build and short stature[members.tripod.com] It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure An infantile syndrome characterized[icd9data.com]

  • Pseudohypoparathyroidism Type 1A

    In children aged 2 years, the commonest clinical features were round lunar face, obesity (70%), and subcutaneous ossifications (60%).[ncbi.nlm.nih.gov] He also had congenital hypothyroidism, round face, full cheeks, shortness of limbs, mild developmental delay, and muscular hypotonia.[ncbi.nlm.nih.gov] GH deficiency not only leads to short stature and obesity, but also to osteoporosis, hyperlipidemia, depressed cardiac and renal function, as well as an overall lack of energy[bioportfolio.com]

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