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Palpebral edema

MedGen UID:
57877
Concept ID:
C0162285
Pathologic Function
Synonyms: Edema of eyelids; Puffy lids
SNOMED CT: Edema of eyelid (89091004); Hydroblepharon (89091004)
 
HPO: HP:0100540

Definition

Edema in the region of the eyelids. [from HPO]

Conditions with this feature

Reis-Bucklers corneal dystrophy
MedGen UID:
83284
Concept ID:
C0339278
Disease or Syndrome
Reis-Bucklers corneal dystrophy (CDRB) is an autosomal dominant disorder of the superficial corneal stroma that manifests as recurrent corneal erosions in early childhood. Affected individuals develop corneal opacities that result in significant visual impairment. Microscopically, CDRB may be differentiated from other forms of corneal dystrophy by confluent opacities in the Bowman layer and subepithelium, which are the product of extracellular bodies that stain red with Masson trichrome stain and appear as crystalloid rod-shaped bodies on transmission electron microscopy (summary by Tanhehco et al., 2006).
Hypotrichosis-lymphedema-telangiectasia syndrome
MedGen UID:
375070
Concept ID:
C1843004
Disease or Syndrome
Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by Irrthum et al., 2003).
Congenital pulmonary lymphangiectasia
MedGen UID:
340355
Concept ID:
C1849554
Congenital Abnormality
Pulmonary lymphangiectasia is a rare congenital vascular dysplasia characterized by an increased number of dilated pulmonary lymphatics in the subpleural, peribronchial, and interlobular septa. Respiratory distress is usually noted immediately after birth (summary by Stevenson et al., 2006).
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.
Scalp-ear-nipple syndrome
MedGen UID:
357183
Concept ID:
C1867020
Disease or Syndrome
Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).
Mucolipidosis type II
MedGen UID:
435914
Concept ID:
C2673377
Disease or Syndrome
GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.
RIN2 syndrome
MedGen UID:
416526
Concept ID:
C2751321
Disease or Syndrome
A very rare inherited connective tissue disorder with characteristics of macrocephaly, sparse scalp hair, soft redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rare manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Caused by homozygous mutation in the RIN2 gene on chromosome 20p11.
Peroxisome biogenesis disorder 2A (Zellweger)
MedGen UID:
763187
Concept ID:
C3550273
Disease or Syndrome
The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see 214100.
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
MedGen UID:
766575
Concept ID:
C3553661
Disease or Syndrome
Cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA) is an autosomal dominant neurologic disorder with significant phenotypic heterogeneity, even within families. The disorder is most often diagnosed through genetic analysis with retrospective clinical phenotyping. Symptom onset is usually in early childhood, although later onset, even in adulthood, has been reported. Most affected individuals show global developmental delay from early childhood, particularly of motor and language skills. Many have mild intellectual disability; behavioral and psychiatric abnormalities such as autism and obsessive-compulsive disorder are also often observed. The movement disorder is prominent and may include cerebellar signs such as ataxia, tremor, dysmetria, poor coordination, and dysarthria. Other abnormal movements including spasticity, myoclonus, and dystonia have been reported, thus widening the phenotypic spectrum. Brain imaging is usually normal, but may show cerebellar atrophy or nonspecific white matter lesions. Variable dysmorphic facial features may also be present (summary by Thevenon et al., 2012; Jacobs et al., 2021; Wijnen et al., 2020).
Peroxisome biogenesis disorder 5A (Zellweger)
MedGen UID:
766854
Concept ID:
C3553940
Disease or Syndrome
The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see 214100.
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
MedGen UID:
1373459
Concept ID:
C4317151
Disease or Syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).

Professional guidelines

PubMed

Mayur O, Martinez R, McNichol MC, McGee JS
Arch Dermatol Res 2023 Oct;315(8):2427-2429. Epub 2023 Apr 16 doi: 10.1007/s00403-023-02621-6. PMID: 37062777
Ní Dhubhghaill S, Faris C
Facial Plast Surg 2023 Feb;39(1):53-56. Epub 2022 Oct 25 doi: 10.1055/a-1967-6050. PMID: 36283416
Carlisle RT, Digiovanni J
Am Fam Physician 2015 Jul 15;92(2):106-12. PMID: 26176369

Recent clinical studies

Etiology

Leung AKC, Lam JM, Barankin B
Curr Pediatr Rev 2024;20(3):305-322. doi: 10.2174/1573396320666230801091558. PMID: 37526456
Carrión-Nessi FS, Ascanio LC, Pineda-Arapé AG, Omaña-Ávila ÓD, Mendoza-Millán DL, Romero SR, Almao-Rivero AB, Camejo-Ávila NA, Gebran-Chedid KJ, Rodriguez-Saavedra CM, Freitas-De Nobrega DC, Castañeda SA, Forero-Peña JL, Delgado-Noguera LA, Meneses-Ramírez LK, Cotuá JC, Rodriguez-Morales AJ, Forero-Peña DA, Paniz-Mondolfi AE
BMC Infect Dis 2023 Dec 14;23(1):877. doi: 10.1186/s12879-023-08898-2. PMID: 38097988Free PMC Article
Kolsi N, Zrig A, Chouchène H, Bouatay R, Harrathi K, Koubaa J
Pan Afr Med J 2017;26:209. Epub 2017 Apr 19 doi: 10.11604/pamj.2017.26.209.11817. PMID: 28690724Free PMC Article
Ai Q, Zhang W, Xie Y, Huang W, Liang H, Cao H
J Tradit Chin Med 2014 Aug;34(4):498-503. doi: 10.1016/s0254-6272(15)30053-4. PMID: 25185371
Abdel-Aziz M, El-Hoshy H, Rashed M, Qotb M, Awad S, Naguib N
Int J Pediatr Otorhinolaryngol 2011 Apr;75(4):564-7. Epub 2011 Feb 12 doi: 10.1016/j.ijporl.2011.01.020. PMID: 21320728

Diagnosis

Leung AKC, Lam JM, Barankin B
Curr Pediatr Rev 2024;20(3):305-322. doi: 10.2174/1573396320666230801091558. PMID: 37526456
Carrión-Nessi FS, Ascanio LC, Pineda-Arapé AG, Omaña-Ávila ÓD, Mendoza-Millán DL, Romero SR, Almao-Rivero AB, Camejo-Ávila NA, Gebran-Chedid KJ, Rodriguez-Saavedra CM, Freitas-De Nobrega DC, Castañeda SA, Forero-Peña JL, Delgado-Noguera LA, Meneses-Ramírez LK, Cotuá JC, Rodriguez-Morales AJ, Forero-Peña DA, Paniz-Mondolfi AE
BMC Infect Dis 2023 Dec 14;23(1):877. doi: 10.1186/s12879-023-08898-2. PMID: 38097988Free PMC Article
Méndez Alcalde JD, Cabrerizo Ballesteros S, García Villamuza Y
J Investig Allergol Clin Immunol 2017;27(5):330-331. doi: 10.18176/jiaci.0183. PMID: 29057745
Kolsi N, Zrig A, Chouchène H, Bouatay R, Harrathi K, Koubaa J
Pan Afr Med J 2017;26:209. Epub 2017 Apr 19 doi: 10.11604/pamj.2017.26.209.11817. PMID: 28690724Free PMC Article
Buonaccorsi S, Leonardi A, Covelli E, Indrizzi E, Perdicchi A, Fini G
J Craniofac Surg 2005 Nov;16(6):1132-5. doi: 10.1097/01.scs.0000183466.08332.be. PMID: 16327570

Therapy

Méndez Alcalde JD, Cabrerizo Ballesteros S, García Villamuza Y
J Investig Allergol Clin Immunol 2017;27(5):330-331. doi: 10.18176/jiaci.0183. PMID: 29057745
Zemba M, Burcea M, Camburu G
Rom J Ophthalmol 2016 Jul-Sep;60(3):200-206. PMID: 29450349Free PMC Article
Ai Q, Zhang W, Xie Y, Huang W, Liang H, Cao H
J Tradit Chin Med 2014 Aug;34(4):498-503. doi: 10.1016/s0254-6272(15)30053-4. PMID: 25185371
Cardoso CC, Giordani AJ, Wolosker AM, Souhami L, Manso PG, Dias RS, Segreto HR, Segreto RA
Int J Radiat Oncol Biol Phys 2012 Mar 1;82(3):1285-91. Epub 2011 May 6 doi: 10.1016/j.ijrobp.2010.09.015. PMID: 21550180
Saari KM, Vilppula A, Lassus A, Leirisalo M, Saari R
Am J Ophthalmol 1980 Jul;90(1):63-8. doi: 10.1016/s0002-9394(14)75077-9. PMID: 7395959

Prognosis

El Othman R, Ephrem C, Touma E, Hallit S, El Othman R
BMC Endocr Disord 2020 Nov 27;20(1):176. doi: 10.1186/s12902-020-00658-6. PMID: 33246456Free PMC Article
Mao S, Xuan X, Sha Y, Zhao S, Zhang A, Huang S
Int J Clin Exp Pathol 2015;8(2):1826-9. Epub 2015 Feb 1 PMID: 25973075Free PMC Article
Ai Q, Zhang W, Xie Y, Huang W, Liang H, Cao H
J Tradit Chin Med 2014 Aug;34(4):498-503. doi: 10.1016/s0254-6272(15)30053-4. PMID: 25185371
Abdel-Aziz M, El-Hoshy H, Rashed M, Qotb M, Awad S, Naguib N
Int J Pediatr Otorhinolaryngol 2011 Apr;75(4):564-7. Epub 2011 Feb 12 doi: 10.1016/j.ijporl.2011.01.020. PMID: 21320728
Mejía-Novelo A, Alvarado-Miranda A, Morales-Vázquez F, Gamboa-Vignole C, Núñez-Gómez R, Castañeda-Soto N, Dueñas-González A, Candelaria-Hernández M, Lara-Medina F
Med Oncol 2004;21(3):217-21. doi: 10.1385/MO:21:3:217. PMID: 15456948

Clinical prediction guides

Leung AKC, Lam JM, Barankin B
Curr Pediatr Rev 2024;20(3):305-322. doi: 10.2174/1573396320666230801091558. PMID: 37526456
Tripon F, Bogliș A, Micheu C, Streață I, Bănescu C
Genes (Basel) 2020 May 28;11(6) doi: 10.3390/genes11060596. PMID: 32481733Free PMC Article
Zemba M, Burcea M, Camburu G
Rom J Ophthalmol 2016 Jul-Sep;60(3):200-206. PMID: 29450349Free PMC Article
Ai Q, Zhang W, Xie Y, Huang W, Liang H, Cao H
J Tradit Chin Med 2014 Aug;34(4):498-503. doi: 10.1016/s0254-6272(15)30053-4. PMID: 25185371
Santos N, Iraola V, Plácido JL
Eur Ann Allergy Clin Immunol 2014 Jul;46(4):137-41. PMID: 25053630

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