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Abnormal eyelash morphology

MedGen UID:
382526
Concept ID:
C2675111
Finding
Synonym: Abnormal eyelashes
 
HPO: HP:0000499

Definition

An abnormality of the eyelashes. [from HPO]

Conditions with this feature

Microphthalmia with limb anomalies
MedGen UID:
154638
Concept ID:
C0599973
Disease or Syndrome
Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome (OAS), is a rare autosomal recessive developmental disorder characterized by unilateral or bilateral microphthalmia, clinical anophthalmia, syndactyly, polydactyly, synostosis, or oligodactyly. Long-bone hypoplasia and renal, venous, and vertebral anomalies may also be present. Impaired intellectual development is present in about half of affected individuals (summary by Tekin et al., 2000, Abouzeid et al., 2011).
11q partial monosomy syndrome
MedGen UID:
162878
Concept ID:
C0795841
Disease or Syndrome
Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome with major clinical features of growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammertoes, and isoimmune thrombocytopenia (Fryns et al., 1986, Epstein, 1986).
Autosomal dominant wooly hair
MedGen UID:
348571
Concept ID:
C1860238
Finding
Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends. WH can appear as part of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (summary by Petukhova et al., 2009). See 278150 for a discussion of genetic heterogeneity of autosomal recessive woolly hair.
Rombo syndrome
MedGen UID:
356704
Concept ID:
C1867147
Disease or Syndrome
Rombo syndrome has characteristics of vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, and peripheral vasodilation with cyanosis and basal cell carcinomas. It has been described in four generations of one family and in two additional sporadic cases. The skin lesions become visible between 7 and 10 years of age and are most pronounced on the face. Basal cell carcinomas are frequent and develop at around 35 years of age.
Hypotrichosis 3
MedGen UID:
462782
Concept ID:
C3151432
Disease or Syndrome
Hypotrichosis simplex can affect all body hair (generalized; see 605389) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389).
Hypotrichosis 9
MedGen UID:
481882
Concept ID:
C3280252
Disease or Syndrome
A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.
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

de la Fuente Díez Y, Olvera Morales O, Chen López CY, Tovilla Canales JL, Nava Castañeda A
Arch Soc Esp Oftalmol (Engl Ed) 2020 Jan;95(1):9-14. Epub 2019 Dec 2 doi: 10.1016/j.oftal.2019.09.008. PMID: 31806264
Annunziata MC, De Stefano A, Fabbrocini G, Leo S, Marchetti P, Romano MC, Romano I
Clin Drug Investig 2019 Sep;39(9):825-834. doi: 10.1007/s40261-019-00811-7. PMID: 31264159
Demirci H, Frueh BR, Nelson CC
Ophthalmology 2010 Jul;117(7):1447-52. Epub 2010 Feb 25 doi: 10.1016/j.ophtha.2009.11.014. PMID: 20188419

Recent clinical studies

Etiology

Almashaqbeh SS, Aljammal DS, Alharahsheh HM, Alqudah SF, Alkrimeen RA
Med Arch 2022 Aug;76(4):301-304. doi: 10.5455/medarh.2022.76.301-304. PMID: 36313953Free PMC Article
Sleiman R, Kurban M, Succaria F, Abbas O
J Am Acad Dermatol 2013 Oct;69(4):625-33. Epub 2013 Jul 12 doi: 10.1016/j.jaad.2013.05.022. PMID: 23850259
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Vano-Galvan S, Moreno-Martin P, Jaén P
Neth J Med 2009 Jan;67(1):35-6. PMID: 19155549

Diagnosis

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE
Genet Med 2019 Jun;21(6):1295-1307. Epub 2018 Nov 8 doi: 10.1038/s41436-018-0330-z. PMID: 30349098Free PMC Article
McDermott S, Lahiff C
CMAJ 2016 Feb 2;188(2):E44. Epub 2015 Jun 29 doi: 10.1503/cmaj.141029. PMID: 26124227Free PMC Article
Mohammadzadeh Shanehsaz S, Rezazadeh A, Dandashli A
Dermatol Online J 2015 Feb 22;21(3) PMID: 25780981
Modjtahedi BS, Alikhan A, Maibach HI, Schwab IR
Surv Ophthalmol 2011 Sep-Oct;56(5):416-32. Epub 2011 Jul 23 doi: 10.1016/j.survophthal.2011.02.003. PMID: 21784498
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article

Therapy

Gonzalez-Salinas R, Yeu E, Holdbrook M, Baba SN, Ceballos JC, Massaro-Corredor M, Corredor-Ortega C, Ramos-Betancourt N, Quiroz-Mercado H
J Ocul Pharmacol Ther 2021 Oct;37(8):479-484. Epub 2021 Aug 20 doi: 10.1089/jop.2021.0011. PMID: 34415795
Zhang Q, Fan X, Tian M, Han H
BMC Nephrol 2020 Jul 13;21(1):272. doi: 10.1186/s12882-020-01938-y. PMID: 32660433Free PMC Article
Annunziata MC, De Stefano A, Fabbrocini G, Leo S, Marchetti P, Romano MC, Romano I
Clin Drug Investig 2019 Sep;39(9):825-834. doi: 10.1007/s40261-019-00811-7. PMID: 31264159
Custer PL, Kent TL
Ophthalmic Plast Reconstr Surg 2016 Mar-Apr;32(2):102-5. doi: 10.1097/IOP.0000000000000431. PMID: 25719374
Vano-Galvan S, Moreno-Martin P, Jaén P
Neth J Med 2009 Jan;67(1):35-6. PMID: 19155549

Prognosis

Singh S
Indian J Ophthalmol 2022 Apr;70(4):1100-1106. doi: 10.4103/ijo.IJO_1141_21. PMID: 35325995Free PMC Article
Sleiman R, Kurban M, Succaria F, Abbas O
J Am Acad Dermatol 2013 Oct;69(4):625-33. Epub 2013 Jul 12 doi: 10.1016/j.jaad.2013.05.022. PMID: 23850259
Möhrenschlager M, Lauenstein M, Ring J, Steiner C
Eur J Med Genet 2010 Jul-Aug;53(4):225-6. Epub 2010 Feb 10 doi: 10.1016/j.ejmg.2010.02.001. PMID: 20152950
Nicholson AD, Menon S
J Postgrad Med 1995 Jan-Mar;41(1):22-3. PMID: 10740699
McCarthy GT, West CM
Dev Med Child Neurol 1977 Oct;19(5):659-63. doi: 10.1111/j.1469-8749.1977.tb07999.x. PMID: 913905

Clinical prediction guides

Alsabbagh MM
Acta Dermatovenerol Alp Pannonica Adriat 2022 Jun;31(2):49-64. PMID: 35751533
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE
Genet Med 2019 Jun;21(6):1295-1307. Epub 2018 Nov 8 doi: 10.1038/s41436-018-0330-z. PMID: 30349098Free PMC Article
Mohammadzadeh Shanehsaz S, Rezazadeh A, Dandashli A
Dermatol Online J 2015 Feb 22;21(3) PMID: 25780981
Dollfus H, Verloes A
Surv Ophthalmol 2004 Nov-Dec;49(6):547-61. doi: 10.1016/j.survophthal.2004.08.001. PMID: 15530943
Gasch AT, Caruso RC, Kaler SG, Kaiser-Kupfer M
Ophthalmology 2002 Aug;109(8):1477-83. doi: 10.1016/s0161-6420(02)01095-3. PMID: 12153799

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