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75 Possible Causes for Round Face in Infancy, Short Stature

  • XXXXY Syndrome

    Both boys are mentally retarded with short stature, muscular hypotonia, and hypogonadism.[ncbi.nlm.nih.gov] face in infancy,(Look very much like a cherub) coarse features in older age, hypertelorism, epicanthal folds, prognathism, gynecomastia (rare), congenital heart defects ([web.archive.org] Though many boys showed short stature at some point in early childhood, most outgrew it.[ncbi.nlm.nih.gov]

  • Pseudopseudohypoparathyroidism

    She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones.[doi.org] A 62 year old man with a height of 171.5 cm, a round face, a short neck, central obesity and brachydactyly had normal ranges of serum calcium, phosphorus and PTH and a normal[e-enm.org] stature.[ncbi.nlm.nih.gov]

  • Mowat-Wilson Syndrome

    Patients can show a variety of other anomalies like short stature, microcephaly, Hirschsprung disease, malformations of the brain, seizures, congenital heart defects and urogenital[ncbi.nlm.nih.gov] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] stature, and genitourinary anomalies.[ncbi.nlm.nih.gov]

  • Coats Plus Syndrome

    We conclude that the CRMCC-associated bone disease is characterized by low BMD and pathological fractures with delayed healing, metaphyseal changes, and short stature pre-[ncbi.nlm.nih.gov] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] We conclude that the CRMCC‐associated bone disease is characterized by low BMD and pathological fractures with delayed healing, metaphyseal changes, and short stature pre‐[doi.org]

  • Glycogen Storage Disease Type 1

    Short stature was demonstrated in 3 of 4 patients with GSD1b and GH deficiency.[ncbi.nlm.nih.gov] Infants have a round “doll” face.[clinicaladvisor.com] stature.[en.wikipedia.org]

  • Glycogen Storage Disease Type 3

    Some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver.[rarediseases.info.nih.gov] Infants have a round “doll” face.[clinicaladvisor.com] stature growth retardation carniofacial anomalies midface hypoplasia deep-set eyes depressed nasal bridge broad upturned nasal tip bow-shaped lips thin vermillion border[humpath.com]

  • Autosomal Dominant Mental Retardation Type 21

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] Stature Syndrome, Brussels Type Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia[rgd.mcw.edu]

  • Glycogen Storage Disease due to GLUT2 Deficiency

    stature) persist into adulthood.[ncbi.nlm.nih.gov] Infants have a round “doll” face.[clinicaladvisor.com] Diet and supplements may alleviate some of the manifestations of FBG but do not result in improved growth, resulting in short stature in adulthood.[orpha.net]

  • Barth Syndrome

    Barth syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia.[ncbi.nlm.nih.gov] In early childhood, the face is round with full cheeks and an overall “cherubic” appearance (see Figure 8 ), whereas after the first decade and especially after puberty, the[ncbi.nlm.nih.gov] stature, low cholesterol, and mitochondrial abnormalities.[genome.jp]

  • Baraitser-Winter Syndrome 1

    We report a 3-year-old girl with short stature, mild developmental delay and intellectual disability, minor brain anomalies and very few dysmorphic features including unusual[bioportfolio.com] The face is round and flat in infancy.[ncbi.nlm.nih.gov] The median part of the face is broad with a wide nasal base and marked hypertelorism (39/41–95%).[doi.org]

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