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1,236 Possible Causes for Large Hand, Short Stature

  • Wiedemann-Rautenstrauch Syndrome

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

  • 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[icd10data.com] Other abnormalities that have been observed in infants with leprechaunism include recurrent infections, abnormalities of the intellect and unusually large hands and feet.[symptoma.com] 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[encyclopedia.com]

  • Endocrine Dysfunction

    Definition A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction.[uniprot.org] Symptoms of acromegaly include: Abnormally large lips, nose or tongue Abnormally large or swollen hands or feet Altered facial bone structure Body and joint aches Deep voice[secondopiniongroup.com] Short stature was common, being documented in 38% of cases. Gonadal dysfunction before or after puberty was also common (20% of cases) and affected both sexes equally.[ncbi.nlm.nih.gov]

  • Patterson Pseudoleprechaunism Syndrome

    dysplasia brachydactyly Skeletal dysplasia epilepsy short stature Skeletal dysplasia orofacial anomalies Skeletal dysplasia San diego type Skeletal dysplasias Skeleto cardiac[sosu.us] […] and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability.[orpha.net] Symptoms - Patterson pseudoleprechaunism syndrome * Large hands * Large feet * Large nose * Large ears * Loose skin * Bronze skin pigmentation * Thick hair * Mental retardation[checkorphan.org]

  • 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[ncbi.nlm.nih.gov] hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors.[ncbi.nlm.nih.gov] Here we depict the clinical presentation of three new cases with 5q35 microduplication outlining a novel syndrome characterized by microcephaly, short stature, developmental[ncbi.nlm.nih.gov]

  • Coffin-Lowry Syndrome

    stature, soft fleshy hands with tapering fingers and skeletal abnormalities.[ncbi.nlm.nih.gov] hands large hand 0001176 Muscular hypotonia Low or weak muscle tone 0001252 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167[rarediseases.info.nih.gov] Abstract Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, and hypotonia.[ncbi.nlm.nih.gov]

  • Generalized Lipodystrophy

    We present three patients with congenital generalized lipodystrophy, sensorineural deafness, low birth weight, short stature, delayed cognitive development, and progressive[ncbi.nlm.nih.gov] Affected individuals tend to have prominent bones above the eyes ( orbital ridges ), large hands and feet, and a prominent belly button (umbilicus).[ghr.nlm.nih.gov] Continued Adults with CGL have large hands and feet and a strong, square jawbone because their hormone balance is off and they keep growing.[webmd.com]

  • Three M Syndrome

    […] dysmorphia and skeletal abnormalities Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three[wikidata.org] Mulibrey nanism : includes prenatal and postnatal growth deficiency with relatively large hands, triangular faces with frontal bossing and depressed nasal bridge, small tongue[nature.com] The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency.[ncbi.nlm.nih.gov]

  • Congenital Generalized Lipodystrophy Type 2

    Type 3 appears to cause poor growth and short stature, along with other health problems.[ghr.nlm.nih.gov] stature (ISS) in children Abstract (Rus) ., ., ., ., ., ., ., ., ., ., .[endojournals.ru] Birth Defects & Skeletal Dysplasias. In: Thong MK, Wong CP, Lee WS (Editors). Handbook of Hospital Paediatrics 2009 Second Edition.[umexpert.um.edu.my]

  • Hypochondroplasia

    Abstract Dyschondrosteosis (DCO) and hypochondroplasia (HCH) are common skeletal dysplasias characterized by disproportionate short stature.[ncbi.nlm.nih.gov] […] forehead and short hands.[ncbi.nlm.nih.gov] Both had severe short stature and evidence of rhizomelia and mesomelia as well as other phenotypic features of their individual genetic disorders.[ncbi.nlm.nih.gov]

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