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Overgrowth

MedGen UID:
376550
Concept ID:
C1849265
Finding
Synonyms: FETAL OVERGROWTH; GENERALIZED OVERGROWTH
 
HPO: HP:0001548

Conditions with this feature

Beckwith-Wiedemann syndrome
MedGen UID:
2562
Concept ID:
C0004903
Congenital Abnormality
Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by macrosomia, macroglossia, visceromegaly, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), omphalocele, neonatal hypoglycemia, ear creases/pits, adrenocortical cytomegaly, and renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly). 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.
Marfan's syndrome
MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
Marfan syndrome is a systemic disorder of connective tissue with a high degree of clinical variability. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. FBN1 pathogenic variants associate with a broad phenotypic continuum, ranging from isolated features of Marfan syndrome to neonatal presentation of severe and rapidly progressive disease in multiple organ systems. Myopia is the most common ocular feature; displacement of the lens from the center of the pupil, seen in approximately 60% of affected individuals, is a hallmark feature. People with Marfan syndrome are at increased risk for retinal detachment, glaucoma, and early cataract formation. The skeletal system involvement is characterized by bone overgrowth and joint laxity. The extremities are disproportionately long for the size of the trunk (dolichostenomelia). Overgrowth of the ribs can push the sternum in (pectus excavatum) or out (pectus carinatum). Scoliosis is common and can be mild or severe and progressive. The major sources of morbidity and early mortality in the Marfan syndrome relate to the cardiovascular system. Cardiovascular manifestations include dilatation of the aorta at the level of the sinuses of Valsalva, a predisposition for aortic tear and rupture, mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population.
Neurofibromatosis, type 1
MedGen UID:
18013
Concept ID:
C0027831
Neoplastic Process
Neurofibromatosis 1 (NF1) is characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.
Sclerosteosis
MedGen UID:
120530
Concept ID:
C0265301
Congenital Abnormality
SOST-related sclerosing bone dysplasias include sclerosteosis and van Buchem disease; both are disorders of osteoblast hyperactivity. The major clinical features of sclerosteosis are progressive skeletal overgrowth and variable syndactyly, usually of the second (index) and third (middle) fingers. Affected individuals appear normal at birth except for syndactyly. Distinctive facial features including asymmetric mandibular hypertrophy, frontal bossing, and midface hypoplasia are usually apparent by mid-childhood. Hyperostosis of the skull results in narrowing of the foramina, causing entrapment of the seventh cranial nerve (often leading to facial palsy) and entrapment of the eighth cranial nerve (often resulting in deafness in mid-childhood). In sclerosteosis, hyperostosis of the calvarium reduces intracranial volume, increasing the risk for potentially lethal elevation of intracranial pressure. Survival of individuals with sclerosteosis into old age is unusual. The manifestations of van Buchem disease are generally milder than sclerosteosis and syndactyly is absent. Based on a few case reports, it is also likely that the spectrum of SOST-related sclerosing bone dysplasias includes an autosomal dominant form of craniodiaphyseal dysplasia (CDD).
Epidermal nevus syndrome
MedGen UID:
120533
Concept ID:
C0265318
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).
Cutis laxa, autosomal recessive
MedGen UID:
78663
Concept ID:
C0268351
Disease or Syndrome
Lethal Kniest-like syndrome
MedGen UID:
98144
Concept ID:
C0432208
Congenital Abnormality
Nievergelt's syndrome
MedGen UID:
98478
Concept ID:
C0432231
Disease or Syndrome
Dysplasia epiphysealis hemimelica
MedGen UID:
96591
Concept ID:
C0432282
Congenital Abnormality
Costello syndrome
MedGen UID:
108454
Concept ID:
C0587248
Disease or Syndrome
Costello syndrome is characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy [HCM]), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.
MOMO syndrome
MedGen UID:
371897
Concept ID:
C1834759
Disease or Syndrome
Megalencephaly cutis marmorata telangiectatica congenita
MedGen UID:
355421
Concept ID:
C1865285
Disease or Syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria (summary by Mirzaa et al., 2012). This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome (Conway et al., 2007). Mirzaa et al. (2012) suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria.
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
MedGen UID:
442876
Concept ID:
C2752042
Disease or Syndrome
Enamel-renal syndrome
MedGen UID:
419162
Concept ID:
C2931783
Disease or Syndrome
Amelogenesis imperfecta and gingival fibromatosis syndrome is an autosomal recessive condition characterized by mild gingival fibromatosis and dental anomalies, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies, and unerupted teeth (Martelli-Junior et al., 2008).
Chromosome 17q11.2 deletion syndrome, 1.4-mb
MedGen UID:
462278
Concept ID:
C3150928
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).
Autosomal recessive cutis laxa type 1B
MedGen UID:
482428
Concept ID:
C3280798
Disease or Syndrome
EFEMP2-related cutis laxa (autosomal recessive cutis laxa type 1B [ARCL1B]) is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems.
Sotos syndrome 2
MedGen UID:
766574
Concept ID:
C3553660
Disease or Syndrome

Recent clinical studies

Etiology

Gürkan A, Emingil G, Afacan B, Berdeli A, Atilla G
Arch Oral Biol 2014 Mar;59(3):283-8. Epub 2013 Dec 14 doi: 10.1016/j.archoralbio.2013.12.003. [Epub ahead of print] PMID: 24581850
Gong Y, Lu J, Ding X, Yu Y
J Periodontal Res 2014 Aug;49(4):448-57. Epub 2013 Aug 16 doi: 10.1111/jre.12123. [Epub ahead of print] PMID: 23947915
Cetinkaya BO, Pamuk F, Keles GC, Ayas B, Ozfidan GK, Kayisli U, Arik N, Horton H
J Periodontal Res 2014 Jun;49(3):307-13. Epub 2013 Jun 19 doi: 10.1111/jre.12108. [Epub ahead of print] PMID: 23782056
Lee MS, Liang MG, Mulliken JB
J Am Acad Dermatol 2013 Oct;69(4):589-94. Epub 2013 Jul 29 doi: 10.1016/j.jaad.2013.05.030. [Epub ahead of print] PMID: 23906555
Kitoh H, Kaneko H, Mishima K, Matsushita M, Ishiguro N
J Pediatr Orthop B 2013 Sep;22(5):432-6. doi: 10.1097/BPB.0b013e32835f585b. PMID: 23426028

Diagnosis

Kumar R, Singh RK, Verma N, Verma UP
BMJ Case Rep 2014 Jul 21;2014 doi: 10.1136/bcr-2014-204046. PMID: 25053668
Al-Qattan MM
J Pediatr Orthop 2014 Oct-Nov;34(7):715-9. doi: 10.1097/BPO.0000000000000192. PMID: 24686298
Lisowska A, Kobelska-Dubiel N, Jankowska I, Pawłowska J, Moczko J, Walkowiak J
Acta Biochim Pol 2014;61(1):103-7. Epub 2014 Mar 17 [Epub ahead of print] PMID: 24644547
Lee MS, Liang MG, Mulliken JB
J Am Acad Dermatol 2013 Oct;69(4):589-94. Epub 2013 Jul 29 doi: 10.1016/j.jaad.2013.05.030. [Epub ahead of print] PMID: 23906555
Kitoh H, Kaneko H, Mishima K, Matsushita M, Ishiguro N
J Pediatr Orthop B 2013 Sep;22(5):432-6. doi: 10.1097/BPB.0b013e32835f585b. PMID: 23426028

Therapy

Trackman PC, Kantarci A
J Dent Res 2015 Apr;94(4):540-6. Epub 2015 Feb 13 doi: 10.1177/0022034515571265. [Epub ahead of print] PMID: 25680368
Mironiuc-Cureu M, Dumitriu AS, Gheorghiu IM, Stoian IM
J Med Life 2014 Jun 15;7(2):241-5. Epub 2014 Jun 25 PMID: 25408733Free PMC Article
Kumar R, Singh RK, Verma N, Verma UP
BMJ Case Rep 2014 Jul 21;2014 doi: 10.1136/bcr-2014-204046. PMID: 25053668
Gong Y, Lu J, Ding X, Yu Y
J Periodontal Res 2014 Aug;49(4):448-57. Epub 2013 Aug 16 doi: 10.1111/jre.12123. [Epub ahead of print] PMID: 23947915
Cetinkaya BO, Pamuk F, Keles GC, Ayas B, Ozfidan GK, Kayisli U, Arik N, Horton H
J Periodontal Res 2014 Jun;49(3):307-13. Epub 2013 Jun 19 doi: 10.1111/jre.12108. [Epub ahead of print] PMID: 23782056

Prognosis

Gong Y, Lu J, Ding X, Yu Y
J Periodontal Res 2014 Aug;49(4):448-57. Epub 2013 Aug 16 doi: 10.1111/jre.12123. [Epub ahead of print] PMID: 23947915
Lee MS, Liang MG, Mulliken JB
J Am Acad Dermatol 2013 Oct;69(4):589-94. Epub 2013 Jul 29 doi: 10.1016/j.jaad.2013.05.030. [Epub ahead of print] PMID: 23906555
Jacobs C, Coss Adame E, Attaluri A, Valestin J, Rao SS
Aliment Pharmacol Ther 2013 Jun;37(11):1103-11. Epub 2013 Apr 10 doi: 10.1111/apt.12304. [Epub ahead of print] PMID: 23574267Free PMC Article
Kitoh H, Kaneko H, Mishima K, Matsushita M, Ishiguro N
J Pediatr Orthop B 2013 Sep;22(5):432-6. doi: 10.1097/BPB.0b013e32835f585b. PMID: 23426028
Park SS, Noh H, Kam M
Bone Joint J 2013 Feb;95-B(2):254-8. doi: 10.1302/0301-620X.95B2.29491. PMID: 23365038

Clinical prediction guides

Lisowska A, Kobelska-Dubiel N, Jankowska I, Pawłowska J, Moczko J, Walkowiak J
Acta Biochim Pol 2014;61(1):103-7. Epub 2014 Mar 17 [Epub ahead of print] PMID: 24644547
Gong Y, Lu J, Ding X, Yu Y
J Periodontal Res 2014 Aug;49(4):448-57. Epub 2013 Aug 16 doi: 10.1111/jre.12123. [Epub ahead of print] PMID: 23947915
Cetinkaya BO, Pamuk F, Keles GC, Ayas B, Ozfidan GK, Kayisli U, Arik N, Horton H
J Periodontal Res 2014 Jun;49(3):307-13. Epub 2013 Jun 19 doi: 10.1111/jre.12108. [Epub ahead of print] PMID: 23782056
Lee MS, Liang MG, Mulliken JB
J Am Acad Dermatol 2013 Oct;69(4):589-94. Epub 2013 Jul 29 doi: 10.1016/j.jaad.2013.05.030. [Epub ahead of print] PMID: 23906555
Kitoh H, Kaneko H, Mishima K, Matsushita M, Ishiguro N
J Pediatr Orthop B 2013 Sep;22(5):432-6. doi: 10.1097/BPB.0b013e32835f585b. PMID: 23426028

Recent systematic reviews

Shah SC, Day LW, Somsouk M, Sewell JL
Aliment Pharmacol Ther 2013 Oct;38(8):925-34. Epub 2013 Sep 4 doi: 10.1111/apt.12479. [Epub ahead of print] PMID: 24004101Free PMC Article
Raznahan A, Wallace GL, Antezana L, Greenstein D, Lenroot R, Thurm A, Gozzi M, Spence S, Martin A, Swedo SE, Giedd JN
Biol Psychiatry 2013 Oct 15;74(8):563-75. Epub 2013 May 23 doi: 10.1016/j.biopsych.2013.03.022. [Epub ahead of print] PMID: 23706681
Lo WK, Chan WW
Clin Gastroenterol Hepatol 2013 May;11(5):483-90. Epub 2012 Dec 24 doi: 10.1016/j.cgh.2012.12.011. [Epub ahead of print] PMID: 23270866
Patrelli TS, Gizzo S, Di Gangi S, Guidi G, Rondinelli M, Nardelli GB
BMC Cancer 2011 Jun 11;11:236. doi: 10.1186/1471-2407-11-236. [Epub ahead of print] PMID: 21663687Free PMC Article
Malik BA, Xie YY, Wine E, Huynh HQ
Can J Gastroenterol 2011 Jan;25(1):41-5. PMID: 21258668Free PMC Article

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