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Hemihypertrophy

MedGen UID:
90701
Concept ID:
C0332890
Congenital Abnormality
Synonym: Asymmetric limb hypertrophy
SNOMED CT: Congenital hemihypertrophy (205838004)
 
HPO: HP:0001528

Definition

Overgrowth of only one side of the body. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemihypertrophy
Follow this link to review classifications for Hemihypertrophy in Orphanet.

Conditions with this feature

Beckwith-Wiedemann syndrome
MedGen UID:
2562
Concept ID:
C0004903
Disease or Syndrome
Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits. BWS is considered a clinical spectrum, in which affected individuals may have many of these features or may have only one or two clinical features. Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues.
Angioosteohypertrophic syndrome
MedGen UID:
9646
Concept ID:
C0022739
Disease or Syndrome
Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.\n\nMost people with Klippel-Trenaunay syndrome are born with a port-wine stain. This type of birthmark is caused by swelling of small blood vessels near the surface of the skin. Port-wine stains are typically flat and can vary from pale pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the port-wine stain usually covers part of one limb. The affected area may become lighter or darker with age. Occasionally, port-wine stains develop small red blisters that break open and bleed easily.\n\nKlippel-Trenaunay syndrome is also associated with overgrowth of bones and soft tissues beginning in infancy. Usually this abnormal growth is limited to one limb, most often one leg. However, overgrowth can also affect the arms or, rarely, the torso. The abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. If the overgrowth causes one leg to be longer than the other, it can also lead to problems with walking.\n\nMalformations of veins are the third major feature of Klippel-Trenaunay syndrome. These abnormalities include varicose veins, which are swollen and twisted veins near the surface of the skin that often cause pain. Varicose veins usually occur on the sides of the upper legs and calves. Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. Malformations of deep veins increase the risk of a type of blood clot called a deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges in the lungs, it can cause a life-threatening blood clot known as a pulmonary embolism (PE).\n\nOther complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. Less commonly, this condition is also associated with fusion of certain fingers or toes (syndactyly) or the presence of extra digits (polydactyly).
Proteus syndrome
MedGen UID:
39008
Concept ID:
C0085261
Neoplastic Process
Proteus syndrome is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems. In most individuals Proteus syndrome has modest or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism.
Angiokeratoma corporis diffusum with arteriovenous fistulas
MedGen UID:
324953
Concept ID:
C1838141
Disease or Syndrome
Isolated hemihyperplasia
MedGen UID:
383853
Concept ID:
C1856184
Disease or Syndrome
Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term 'hemihyperplasia' has replaced the term 'hemihypertrophy' to describe accurately the increase in cell number found in these patients. The incidence of isolated hemihyperplasia is estimated to be 1 in 86,000. Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood, particularly Wilms tumor (194070) (Shuman et al., 2006). Hoyme et al. (1998) provided an anatomic classification of hemihyperplasia: complex hemihyperplasia is involvement of half of the body, including at least 1 arm and 1 leg; affected parts may be contralateral or ipsilateral. Simple hemihyperplasia is involvement of a single limb. See also facial hemihyperplasia (133900). Although isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome (BWS; 130650), neurofibromatosis (NF1; 162200), Proteus syndrome (176920), and Klippel-Trenaunay-Weber syndrome (149000) (Shuman et al., 2006).
CLAPO syndrome
MedGen UID:
416522
Concept ID:
C2751313
Disease or Syndrome
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.
CLOVES syndrome
MedGen UID:
442876
Concept ID:
C2752042
Disease or Syndrome
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.
Hypoinsulinemic hypoglycemia and body hemihypertrophy
MedGen UID:
480014
Concept ID:
C3278384
Disease or Syndrome
Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.
Tatton-Brown-Rahman overgrowth syndrome
MedGen UID:
862982
Concept ID:
C4014545
Disease or Syndrome
Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth / intellectual disability syndrome characterized by length/height and/or head circumference =2 SD above the mean for age and sex, obesity / increased weight, intellectual disability that ranges from mild to severe, joint hypermobility, hypotonia, behavioral/psychiatric issues, kyphoscoliosis, and seizures. Individuals with TBRS have subtle dysmorphic features, including a round face with coarse features, thick horizontal low-set eyebrows, narrow (as measured vertically) palpebral fissures, and prominent upper central incisors. The facial gestalt is most easily recognizable in the teenage years. TBRS may be associated with an increased risk of developing acute myeloid leukemia. There are less clear associations with aortic root dilatation and increased risk of other hematologic and solid tumors.
Tenorio syndrome
MedGen UID:
864147
Concept ID:
C4015710
Disease or Syndrome
Tenorio syndrome (TNORS) is characterized by overgrowth, macrocephaly, and impaired intellectual development. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (270150) (summary by Tenorio et al., 2014).
Linear nevus sebaceous syndrome
MedGen UID:
1646345
Concept ID:
C4552097
Disease or Syndrome
Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).
DEGCAGS syndrome
MedGen UID:
1794177
Concept ID:
C5561967
Disease or Syndrome
DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021).

Professional guidelines

PubMed

Millar AJW, Cox S, Davidson A
Pediatr Surg Int 2017 Jul;33(7):737-745. Epub 2017 May 17 doi: 10.1007/s00383-017-4091-6. PMID: 28516188
Millar AJ, Cox S, Davidson A
Pediatr Surg Int 2017 Apr;33(4):461-469. Epub 2017 Jan 4 doi: 10.1007/s00383-016-4047-2. PMID: 28054101
Rao A, Rothman J, Nichols KE
Curr Opin Pediatr 2008 Feb;20(1):1-7. doi: 10.1097/MOP.0b013e3282f4249a. PMID: 18197032

Recent clinical studies

Etiology

Radley JA, Connolly M, Sabir A, Kanani F, Carley H, Jones RL, Hyder Z, Gompertz L, Reardon W, Richardson R, McClelland L, Maher ER
Clin Genet 2021 Sep;100(3):292-297. Epub 2021 Jun 6 doi: 10.1111/cge.13997. PMID: 33993487
Duffy KA, Grand KL, Zelley K, Kalish JM
J Genet Couns 2018 Aug;27(4):844-853. Epub 2017 Dec 4 doi: 10.1007/s10897-017-0182-8. PMID: 29204812Free PMC Article
Hagen SL, Hook KP
Semin Cutan Med Surg 2016 Sep;35(3):161-9. doi: 10.12788/j.sder.2016.049. PMID: 27607325
Mohanna MA, Sallam AK
Saudi Med J 2014 Apr;35(4):403-5. PMID: 24749139
Leung AK, Fong JH, Leong AG
J R Soc Promot Health 2002 Mar;122(1):24-7. doi: 10.1177/146642400212200111. PMID: 11989139

Diagnosis

Millar AJW, Cox S, Davidson A
Pediatr Surg Int 2017 Jul;33(7):737-745. Epub 2017 May 17 doi: 10.1007/s00383-017-4091-6. PMID: 28516188
Mohanna MA, Sallam AK
Saudi Med J 2014 Apr;35(4):403-5. PMID: 24749139
Crawford AH, Schorry EK
J Pediatr Orthop 2006 May-Jun;26(3):413-23. doi: 10.1097/01.bpo.0000217719.10728.39. PMID: 16670560
Leung AK, Fong JH, Leong AG
J R Soc Promot Health 2002 Mar;122(1):24-7. doi: 10.1177/146642400212200111. PMID: 11989139
Burrows EH
Br J Radiol 1978 Oct;51(610):771-81. doi: 10.1259/0007-1285-51-610-771. PMID: 101260

Therapy

Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G
Nature 2018 Jun;558(7711):540-546. Epub 2018 Jun 13 doi: 10.1038/s41586-018-0217-9. PMID: 29899452Free PMC Article
Millar AJ, Cox S, Davidson A
Pediatr Surg Int 2017 Apr;33(4):461-469. Epub 2017 Jan 4 doi: 10.1007/s00383-016-4047-2. PMID: 28054101
Jenkins D, McCuaig C, Drolet BA, Siegel D, Adams S, Lawson JA, Wargon O
Pediatr Dermatol 2016 Sep;33(5):536-42. Epub 2016 Jul 28 doi: 10.1111/pde.12946. PMID: 27470532
Hoeger PH, Martinez A, Maerker J, Harper JI
Clin Exp Dermatol 2004 May;29(3):222-30. doi: 10.1111/j.1365-2230.2004.01513.x. PMID: 15115498
Beckwith JB, Kiviat NB, Bonadio JF
Pediatr Pathol 1990;10(1-2):1-36. doi: 10.3109/15513819009067094. PMID: 2156243

Prognosis

Millar AJW, Cox S, Davidson A
Pediatr Surg Int 2017 Jul;33(7):737-745. Epub 2017 May 17 doi: 10.1007/s00383-017-4091-6. PMID: 28516188
Millar AJ, Cox S, Davidson A
Pediatr Surg Int 2017 Apr;33(4):461-469. Epub 2017 Jan 4 doi: 10.1007/s00383-016-4047-2. PMID: 28054101
Jenkins D, McCuaig C, Drolet BA, Siegel D, Adams S, Lawson JA, Wargon O
Pediatr Dermatol 2016 Sep;33(5):536-42. Epub 2016 Jul 28 doi: 10.1111/pde.12946. PMID: 27470532
Pappas JG
Curr Probl Pediatr Adolesc Health Care 2015 Apr;45(4):112-7. Epub 2015 Apr 7 doi: 10.1016/j.cppeds.2015.03.001. PMID: 25861997
Kundu RV, Frieden IJ
Pediatr Dermatol 2003 May-Jun;20(3):199-206. doi: 10.1046/j.1525-1470.2003.20303.x. PMID: 12787266

Clinical prediction guides

Radley JA, Connolly M, Sabir A, Kanani F, Carley H, Jones RL, Hyder Z, Gompertz L, Reardon W, Richardson R, McClelland L, Maher ER
Clin Genet 2021 Sep;100(3):292-297. Epub 2021 Jun 6 doi: 10.1111/cge.13997. PMID: 33993487
Duffy KA, Grand KL, Zelley K, Kalish JM
J Genet Couns 2018 Aug;27(4):844-853. Epub 2017 Dec 4 doi: 10.1007/s10897-017-0182-8. PMID: 29204812Free PMC Article
Dumoucel S, Gauthier-Villars M, Stoppa-Lyonnet D, Parisot P, Brisse H, Philippe-Chomette P, Sarnacki S, Boccon-Gibod L, Rossignol S, Baumann C, Aerts I, Bourdeaut F, Doz F, Orbach D, Pacquement H, Michon J, Schleiermacher G
Pediatr Blood Cancer 2014 Jan;61(1):140-4. Epub 2013 Aug 23 doi: 10.1002/pbc.24709. PMID: 23970395
Hoeger PH, Martinez A, Maerker J, Harper JI
Clin Exp Dermatol 2004 May;29(3):222-30. doi: 10.1111/j.1365-2230.2004.01513.x. PMID: 15115498
Yasuda H, Yamamoto O, Hirokawa H, Asahi M, Kashimura M, Sakai A
Dermatology 2001;203(2):180-4. doi: 10.1159/000051739. PMID: 11586023

Recent systematic reviews

Munhoz L, Arita ES, Nishimura DA, Watanabe PCA
Oral Radiol 2021 Jan;37(1):2-12. Epub 2019 Nov 16 doi: 10.1007/s11282-019-00416-y. PMID: 31734933
Han Q, Li K, Dong K, Xiao X, Yao W, Liu G
J Pediatr Surg 2018 Dec;53(12):2465-2469. Epub 2018 Sep 1 doi: 10.1016/j.jpedsurg.2018.08.022. PMID: 30274708
Al-Jabri T, Eccles S
J Craniofac Surg 2014 Jul;25(4):1266-72. doi: 10.1097/SCS.0000000000000961. PMID: 24978452

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