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Large hands

MedGen UID:
98097
Concept ID:
C0426870
Finding
Synonym: Disproportionately large hands
SNOMED CT: Large hand (249752003)
 
HPO: HP:0001176

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLarge hands

Conditions with this feature

Sotos syndrome
MedGen UID:
61232
Concept ID:
C0175695
Disease or Syndrome
Sotos syndrome is characterized by a distinctive facial appearance (broad and prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, long chin); learning disability (early developmental delay, mild-to-severe intellectual impairment); and overgrowth (height and/or head circumference =2 SD above the mean). These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndrome include behavioral problems (most notably autistic spectrum disorder), advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity with or without pes planus, maternal preeclampsia, neonatal complications, renal anomalies, scoliosis, and seizures.
Gastrointestinal stromal tumor
MedGen UID:
116049
Concept ID:
C0238198
Neoplastic Process
Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (Miettinen et al., 1999, 1999). GISTs are also seen as a feature in several syndromes, e.g., neurofibromatosis-1 (NF1; 162200) and GIST-plus syndrome (175510).
Weaver syndrome
MedGen UID:
120511
Concept ID:
C0265210
Disease or Syndrome
EZH2-related overgrowth includes EZH2-related Weaver syndrome at one end of the spectrum and tall stature at the other. Although most individuals diagnosed with a heterozygous EZH2 pathogenic variant have been identified because of a clinical suspicion of Weaver syndrome, a minority have been identified through molecular genetic testing of family members of probands or individuals with overgrowth who did not have a clinical diagnosis of Weaver syndrome. Thus, the extent of the phenotypic spectrum associated with a heterozygous EZH2 pathogenic variant is not yet known. Weaver syndrome is characterized by tall stature, variable intellect (ranging from normal intellect to severe intellectual disability), characteristic facial appearance, and a range of associated clinical features including advanced bone age, poor coordination, soft doughy skin, camptodactyly of the fingers and/or toes, umbilical hernia, abnormal tone, and hoarse low cry in infancy. Brain MRI has identified abnormalities in a few individuals with EZH2-related overgrowth. Neuroblastoma occurs at a slightly increased frequency in individuals with a heterozygous EZH2 pathogenic variant but data are insufficient to determine absolute risk. There is currently no evidence that additional malignancies (including hematologic malignancies) occur with increased frequency.
Leprechaunism syndrome
MedGen UID:
82708
Concept ID:
C0265344
Disease or Syndrome
INSR-related severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype Donohue syndrome (DS) (also known as leprechaunism) to the milder phenotype Rabson-Mendenhall syndrome (RMS). DS at the severe end of the spectrum is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction and postnatal growth failure, hypotonia and developmental delay, characteristic facies, and organomegaly involving heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS at the milder end of the spectrum is characterized by severe insulin resistance that, although not as severe as that of DS, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and – in the second decade – microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of DS. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer.
Neonatal pseudo-hydrocephalic progeroid syndrome
MedGen UID:
140806
Concept ID:
C0406586
Disease or Syndrome
Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).
Acromegaloid facial appearance syndrome
MedGen UID:
167116
Concept ID:
C0796280
Disease or Syndrome
Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma
MedGen UID:
231158
Concept ID:
C1321495
Congenital Abnormality
Congenital generalized lipodystrophy type 1
MedGen UID:
318592
Concept ID:
C1720862
Disease or Syndrome
Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.
Congenital generalized lipodystrophy type 2
MedGen UID:
318593
Concept ID:
C1720863
Congenital Abnormality
Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality.
MOMO syndrome
MedGen UID:
371897
Concept ID:
C1834759
Disease or Syndrome
A very rare genetic overgrowth/obesity syndrome with characteristics of macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.
Syndromic X-linked intellectual disability Claes-Jensen type
MedGen UID:
335139
Concept ID:
C1845243
Disease or Syndrome
Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males. However, males are usually reported to have short stature, microcephaly, hyperreflexia, and aggressive behavior. In rare cases, female carriers exhibit mildly impaired intellectual development or learning difficulties (summary by Guerra et al., 2020).
Syndromic X-linked intellectual disability Siderius type
MedGen UID:
337375
Concept ID:
C1846055
Disease or Syndrome
Siderius-type syndromic intellectual developmental disorder (MRXSSD) is an X-linked disorder in which affected males have mildly impaired intellectual development, mild dysmorphic features, and bilateral or unilateral cleft lip/palate (summary by Koivisto et al., 2007).
CHIME syndrome
MedGen UID:
341214
Concept ID:
C1848392
Disease or Syndrome
CHIME syndrome, also known as Zunich neuroectodermal syndrome, is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Phelan-McDermid syndrome
MedGen UID:
339994
Concept ID:
C1853490
Disease or Syndrome
Phelan-McDermid syndrome is characterized by neonatal hypotonia, absent to severely delayed speech, developmental delay, and minor dysmorphic facial features. Most affected individuals have moderate to profound intellectual disability. Other features include large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Normal stature and normal head size distinguishes Phelan-McDermid syndrome from other autosomal chromosome disorders. Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autism spectrum disorder or autistic-like affect and behavior.
Dermatoleukodystrophy
MedGen UID:
387794
Concept ID:
C1857314
Disease or Syndrome
This syndrome is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.
Osteodysplastic primordial dwarfism, type 1
MedGen UID:
347149
Concept ID:
C1859452
Congenital Abnormality
Microcephalic osteodysplastic primordial dwarfism type I (MOPD1) is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by Pierce and Morse, 2012).
Chromosome 5p13 duplication syndrome
MedGen UID:
416385
Concept ID:
C2750805
Disease or Syndrome
A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
MedGen UID:
461449
Concept ID:
C3150099
Disease or Syndrome
Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.
Schuurs-Hoeijmakers syndrome
MedGen UID:
767257
Concept ID:
C3554343
Disease or Syndrome
PACS1 neurodevelopmental disorder (PACS1-NDD) is characterized by mild-to-severe neurodevelopmental delays. Language skills are more severely affected than motor skills. Hypotonia is reported in about a third of individuals and is noted to improve over time. Approximately 60% of individuals are ambulatory. Feeding difficulty is common, with 25% requiring gastrostomy tube to maintain appropriate caloric intake. Other common features include constipation, seizures, behavioral issues, congenital heart anomalies, short stature, and microcephaly. Common facial features include hypertelorism, downslanting palpebral fissures, bulbous nasal tip, low-set and simple ears, smooth philtrum, wide mouth with downturned corners, thin upper vermilion, and wide-spaced teeth. To date approximately 35 individuals with PACS1-NDD have been reported.
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
MedGen UID:
816301
Concept ID:
C3809971
Disease or Syndrome
Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. Low cerebrospinal fluid (CSF) asparagine level can help the clinician in differentiating this disorder from others. In most cases age of onset of apnea, excessive irritability, and seizures is soon after birth. Affected individuals typically do not acquire any developmental milestones. Spastic quadriplegia can lead to severe contractures of the limbs and neurogenic scoliosis. Feeding difficulties (gastroesophageal reflux disease, frequent vomiting, swallowing dysfunction, and gastroesophageal incoordination) are a significant problem in most affected individuals. A majority have cortical blindness. MRI findings are nonspecific but may include generalized atrophy and simplified gyral pattern.
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
MedGen UID:
934653
Concept ID:
C4310686
Disease or Syndrome
The core features of short stature-micrognathia syndrome (SSMG) are intrauterine growth restriction (IUGR), postnatal short stature that is often rhizomelic, and micrognathia. Other common features include preterm birth, microcephaly, developmental delay, and genitourinary malformations in males. Transient liver dysfunction and glycosylation abnormalities during illness, giant cell hepatitis, hepatoblastoma, and cataracts have also been observed. Inter- and intrafamilial phenotypic severity varies greatly, from a relatively mild disorder to intrauterine death or stillbirth (Ritter et al., 2022).
Tall stature-intellectual disability-renal anomalies syndrome
MedGen UID:
934682
Concept ID:
C4310715
Disease or Syndrome
Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).
Macrocephaly, dysmorphic facies, and psychomotor retardation
MedGen UID:
934733
Concept ID:
C4310766
Disease or Syndrome
Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).
Cohen-Gibson syndrome
MedGen UID:
1386939
Concept ID:
C4479654
Disease or Syndrome
EED-related overgrowth is characterized by fetal or early childhood overgrowth (tall stature, macrocephaly, large hands and feet, and advanced bone age) and intellectual disability that ranges from mild to severe. To date, EED-related overgrowth has been reported in eight individuals.
Imagawa-Matsumoto syndrome
MedGen UID:
1711007
Concept ID:
C5394073
Disease or Syndrome
Imagawa-Matsumoto syndrome (IMMAS) is characterized by variable pre- and postnatal overgrowth; dysmorphic features including postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge; and variable musculoskeletal abnormalities. Developmental delay and impaired intellectual development are common, whereas abnormalities of cerebral imaging are uncommon but may be significant. Some patients exhibit genitourinary abnormalities, and respiratory issues have been reported (Cyrus et al., 2019).
Chromosome 17q11.2 deletion syndrome, 1.4Mb
MedGen UID:
1726802
Concept ID:
C5401456
Disease or Syndrome
Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).

Professional guidelines

PubMed

Kehrer-Sawatzki H, Mautner VF, Cooper DN
Hum Genet 2017 Apr;136(4):349-376. Epub 2017 Feb 17 doi: 10.1007/s00439-017-1766-y. PMID: 28213670Free PMC Article

Recent clinical studies

Etiology

Shiang A, Wang JS, Kushner B, Panahi AK, Awad MM
Surg Endosc 2022 Jul;36(7):5104-5109. Epub 2021 Nov 29 doi: 10.1007/s00464-021-08876-2. PMID: 34845543
Kehrer-Sawatzki H, Mautner VF, Cooper DN
Hum Genet 2017 Apr;136(4):349-376. Epub 2017 Feb 17 doi: 10.1007/s00439-017-1766-y. PMID: 28213670Free PMC Article
Huan C, Cui G, Lu C, Qu X, Han T
Pak J Pharm Sci 2015 Mar;28(2 Suppl):719-23. PMID: 25796164
Kehrer-Sawatzki H, Vogt J, Mußotter T, Kluwe L, Cooper DN, Mautner VF
Neurogenetics 2012 Aug;13(3):229-36. Epub 2012 May 13 doi: 10.1007/s10048-012-0332-y. PMID: 22581253
Wang M, Mou C, Jiang M, Han L, Fan S, Huan C, Qu X, Han T, Qu Y, Xu G
Eur J Endocrinol 2012 May;166(5):797-802. Epub 2012 Feb 14 doi: 10.1530/EJE-11-1119. PMID: 22334636

Diagnosis

Yan M, Lin J, Shu M, Luo Y, Sun K, Yang S, Zhang X
Oncologist 2023 Dec 11;28(12):e1134-e1141. doi: 10.1093/oncolo/oyad168. PMID: 37311038Free PMC Article
Pereira-Nunes J, Vilan A, Grangeia A, d'Oliveira R
J Investig Med High Impact Case Rep 2023 Jan-Dec;11:23247096221150637. doi: 10.1177/23247096221150637. PMID: 36691917Free PMC Article
Huan C, Cui G, Lu C, Qu X, Han T
Pak J Pharm Sci 2015 Mar;28(2 Suppl):719-23. PMID: 25796164
Phelan MC
Orphanet J Rare Dis 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. PMID: 18505557Free PMC Article
Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP
Am J Med Genet 2001 Jun 15;101(2):91-9. doi: 10.1002/1096-8628(20010615)101:2<91::aid-ajmg1340>3.0.co;2-c. PMID: 11391650

Therapy

Yan M, Lin J, Shu M, Luo Y, Sun K, Yang S, Zhang X
Oncologist 2023 Dec 11;28(12):e1134-e1141. doi: 10.1093/oncolo/oyad168. PMID: 37311038Free PMC Article
Suzuki Y, Morino M, Morita I, Ohiro S
Antimicrob Resist Infect Control 2022 Nov 3;11(1):132. doi: 10.1186/s13756-022-01172-1. PMID: 36329519Free PMC Article
Zingg W, Haidegger T, Pittet D
Am J Infect Control 2016 Dec 1;44(12):1689-1691. Epub 2016 Aug 24 doi: 10.1016/j.ajic.2016.07.006. PMID: 27566875
Yaqub A, Yaqub N
W V Med J 2008 Sep-Oct;104(5):12-5. PMID: 18846753
Sas TC, Gerver WJ, De Bruin R, Mulder PG, Cole TJ, De Waal W, Hokken-Koelega AC
Clin Endocrinol (Oxf) 2000 Dec;53(6):675-81. doi: 10.1046/j.1365-2265.2000.01155.x. PMID: 11155088

Prognosis

Yan M, Lin J, Shu M, Luo Y, Sun K, Yang S, Zhang X
Oncologist 2023 Dec 11;28(12):e1134-e1141. doi: 10.1093/oncolo/oyad168. PMID: 37311038Free PMC Article
Wichelhaus A, Harms C, Neumann J, Ziegler S, Kundt G, Prommersberger KJ, Mittlmeier T, Mühldorfer-Fodor M
BMC Musculoskelet Disord 2018 Feb 14;19(1):54. doi: 10.1186/s12891-018-1971-4. PMID: 29444676Free PMC Article
Wang M, Mou C, Jiang M, Han L, Fan S, Huan C, Qu X, Han T, Qu Y, Xu G
Eur J Endocrinol 2012 May;166(5):797-802. Epub 2012 Feb 14 doi: 10.1530/EJE-11-1119. PMID: 22334636
Phelan MC
Orphanet J Rare Dis 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. PMID: 18505557Free PMC Article
Takei K, Sueishi K, Yamaguchi H, Ohtawa Y
Bull Tokyo Dent Coll 2007 May;48(2):73-85. doi: 10.2209/tdcpublication.48.73. PMID: 17978548

Clinical prediction guides

Moyer E, Cole G, Harding E, Jamieson-Popp M, Fuls JL
Microbiol Spectr 2023 Jun 15;11(3):e0128823. Epub 2023 May 18 doi: 10.1128/spectrum.01288-23. PMID: 37199650Free PMC Article
Pereira-Nunes J, Vilan A, Grangeia A, d'Oliveira R
J Investig Med High Impact Case Rep 2023 Jan-Dec;11:23247096221150637. doi: 10.1177/23247096221150637. PMID: 36691917Free PMC Article
Wichelhaus A, Harms C, Neumann J, Ziegler S, Kundt G, Prommersberger KJ, Mittlmeier T, Mühldorfer-Fodor M
BMC Musculoskelet Disord 2018 Feb 14;19(1):54. doi: 10.1186/s12891-018-1971-4. PMID: 29444676Free PMC Article
Yu L, Wang Y, Huang S, Wang J, Deng Z, Zhang Q, Wu W, Zhang X, Liu Z, Gong W, Chen Z
Cell Res 2010 Feb;20(2):166-73. Epub 2010 Jan 26 doi: 10.1038/cr.2010.8. PMID: 20101266
Janssen JA, Hoogerbrugge N, van Neck JW, Uitterlinden P, Lamberts SW
Clin Endocrinol (Oxf) 1998 Oct;49(4):465-73. doi: 10.1046/j.1365-2265.1998.00557.x. PMID: 9876344

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