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1,945 Possible Causes for Large Hand, Short Stature

  • Wiedemann-Rautenstrauch Syndrome

    Patients have premature aging aspect, short stature and a poorly muscled build.[] hands and feet with long fingers and toes were found.[] Most infants and children with Wiedemann-Rautenstrauch syndrome also have unusually thin arms and legs; abnormally large hands and feet; progressive neurological and neuromuscular[]

  • Patterson Pseudoleprechaunism Syndrome

    Stature MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME Microspherophakia with Hernia middle lobe syndrome Miles-Carpenter syndrome miliaria Milner Khallouf Gibson[] […] and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability.[] Symptoms - Patterson pseudoleprechaunism syndrome * Large hands * Large feet * Large nose * Large ears * Loose skin * Bronze skin pigmentation * Thick hair * Mental retardation[]

  • Donohue Syndrome

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[] Other abnormalities that have been observed in infants with leprechaunism include recurrent infections, abnormalities of the intellect and unusually large hands and feet.[] As an additional side effect of the increased sex hormones released in Donohue syndrome, these individuals often have extremely large hands and feet relative to their non-affected[]

  • Sotos Syndrome

    Our findings provide evidence for the existence of a novel syndrome of short stature, microcephaly, delayed bone development, speech delay and mild or absent facial dysmorphism[] hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors.[] Here we depict the clinical presentation of three new cases with 5q35 microduplication outlining a novel syndrome characterized by microcephaly, short stature, developmental[]

  • Coffin-Lowry Syndrome

    Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism[] hands large hand 0001176 Muscular hypotonia Low or weak muscle tone 0001252 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167[] Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, and hypotonia.[]

  • Generalized Lipodystrophy

    We present three patients with congenital generalized lipodystrophy, sensorineural deafness, low birth weight, short stature, delayed cognitive development, and progressive[] Affected individuals tend to have prominent bones above the eyes ( orbital ridges ), large hands and feet, and a prominent belly button (umbilicus).[] He showed recurrent panniculitis since early infancy, and short stature with delayed skeletal age (3 years less) and low levels of insulin-like growth factor-1 (IGF-1) and[]

  • Growth Failure

    Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature.[] Small hands and feet with a large variability in motor disability are seen. About 80% become severely invalid, more or less completely immobilized.[] […] to images of bones in a standard atlas of bone development, which is based on data from large numbers of other children of the same age and gender.[]

  • Malnutrition

    Some of the symptoms of severe malnutrition include short stature, low energy levels, and swollen legs and stomach (edema/ascites).[] On the other hand, only few households lacked vitamins A, C and B6, which are found in the tubers and fats and which households consume in large amounts.[] stature.[]

  • Melhem-Fahl Syndrome

    Stature MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME Microspherophakia with Hernia middle lobe syndrome Miles-Carpenter syndrome miliaria Milner Khallouf Gibson[] […] dominant type Macrocephaly mental retardation facial dysmorphism Macrocephaly mesodermal hamartoma spectrum Macrocephaly mesomelic arms talipes Macrocephaly pigmentation large[] hands feet Macrocephaly short stature paraplegia Macroepiphyseal dysplasia Mcalister Coe type Macroglossia exomphalos gigantism Macrogyria pseudobulbar palsy Macrosomia developmental[]

  • Gigantism - Acromegaly

    Signs and symptoms Increased blood sugar levels Abnormally tall height (gigantism & acromegaly) Enlarged hands, feet, jaw, cheeks, lips, tongue, and nose (acromegaly) Short[] […] facial features Large hands and feet Large tongue with deep furrows Large tongue observed in a patient with acromegaly ( source ) HOW DO WE CONFIRM A DIAGNOSIS?[] [Review] IJ Ital J Pediatr 2017 Aug 03; 43(1):66 Meazza C, Gertosio C, … Bozzola M Referral for an assessment of tall stature is less common than for short stature.[]

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