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68 Possible Causes for Failure to Thrive, Round Face in Infancy, Short Stature

  • Glycogen Storage Disease Type 1

    Short stature was demonstrated in 3 of 4 patients with GSD1b and GH deficiency.[] Infants have a round “doll” face.[] .5,6,7,8,9 Case Report: A 18 month old female child (Fig.1), second born of a non consanguineous marriage was brought to us with complains of failure to thrive, abdominal[]

  • Glycogen Storage Disease due to GLUT2 Deficiency

    stature) persist into adulthood.[] Infants have a round “doll” face.[] Mutations were also found in patients with atypical clinical signs such as intestinal malabsorption, failure to thrive, the absence of hepatomegaly, or renal hyperfiltration[]

  • Wolf-Hirschhorn Syndrome

    This case, together with a familial 4p deletion involving the distal 400 kb reported in normal women, may narrow the critical region for short stature on 4p to 360-760 kb.[] Microcephaly Round, moonlike face Wide-set, downward-slanting eyes Strabismus Epicanthal folds Williams syndrome Type of abnormality: deletion Critical region: 7q11.23 Mental[] The major manifestations of the Wolf-Hirschhorn syndrome are developmental delay, short stature, mental impairment and epilepsy.[]

  • Barth Syndrome

    Barth syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short stature and neutropenia.[] 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[] Signs and symptoms of Barth syndrome include: skeletal muscle abnormalities delayed gross motor skill development weak muscle tone frequent infections failure to thrive in[]

  • Glycogen Storage Disease Type 3

    Some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver.[] Infants have a round “doll” face.[] He had poor feeding and failure to thrive, and his psychomotor development was severely retarded; he smiled at 11 months, gained head control at 2 years 10 months, and crawled[]

  • Glycogen Storage Disease Type 6

    GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia and short stature.[] Infants have a round “doll” face.[] […] to thrive in infancy Faltering weight in infancy Weight faltering in infancy When there are mutations in the PYGL gene, there is not enough functioning glycogen phosphorylase[]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    MalaCards based summary : Disproportionate Short Stature with Ptosis and Valvular Heart Lesions, is also known as short stature-valvular heart disease-characteristic facies[] 50–65 ASD, VSD, PDA, LSVC, aortic atresia, dextrocardia, TOF, tricuspid atresia 22, 154 Deletion 5p (cri-du-chat) Catlike cry, prenatal and postnatal growth retardation, round[] He had persistent failure to thrive due to intermittent respiratory tract infection.[]

  • 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[] 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[] Symptons may include: Growth and Motor development delay : speech can be delayed or absent; Seizures in the majority of individuals ( Epilepsy ); Failure to thrive in early[]

  • XXXXY Syndrome

    Both boys are mentally retarded with short stature, muscular hypotonia, and hypogonadism.[] face in infancy,(Look very much like a cherub) coarse features in older age, hypertelorism, epicanthal folds, prognathism, gynecomastia (rare), congenital heart defects ([] A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia[]

  • 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[] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[] […] to thrive Muscle weakness Saccadic smooth pursuit Nonprogressive cerebellar ataxia Arachnodactyly Pachygyria Abnormality of vision Hypoplasia of the brainstem Toe walking[]

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