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Unilateral ptosis

MedGen UID:
401085
Concept ID:
C1866806
Finding
Synonym: Ptosis, unilateral
 
HPO: HP:0007687

Definition

A unilateral form of ptosis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Unilateral ptosis

Conditions with this feature

Marcus Gunn jaw winking synkinesis
MedGen UID:
120582
Concept ID:
C0266521
Disease or Syndrome
The Marcus Gunn phenomenon consists of unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. Although it usually persists into adult life, the phenomenon is seen in its most marked forms in infancy when the rapid spasmodic movements of the lid are apparent during sucking and thus are noted soon after birth (Doco-Fenzy et al., 2006).
Keipert syndrome
MedGen UID:
338088
Concept ID:
C1850627
Disease or Syndrome
Keipert syndrome (KPTS) is characterized by craniofacial and digital abnormalities and variable learning difficulties. The distinctive facial appearance includes broad forehead, hypertelorism, prominent nose, wide mouth, and prominent upper lip with cupid bow configuration. Digital anomalies are also distinctive, with widening of all distal phalanges, particularly of the thumbs and great toes (Amor et al., 2019).
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
MedGen UID:
355803
Concept ID:
C1866802
Disease or Syndrome
This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.
Orofaciodigital syndrome V
MedGen UID:
358131
Concept ID:
C1868118
Disease or Syndrome
Orofaciodigital syndrome V (OFD5) is an autosomal recessive disorder characterized by cleft palate/uvula, lobulated tongue, frontal bossing, hypertelorism, postaxial polydactyly, and impaired intellectual development (summary by Faily et al., 2017).
Cranioectodermal dysplasia 2
MedGen UID:
462224
Concept ID:
C3150874
Disease or Syndrome
Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.
Facial paresis, hereditary congenital, 3
MedGen UID:
766539
Concept ID:
C3553625
Disease or Syndrome
HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., 157900), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see 601471.
Intellectual disability, X-linked 101
MedGen UID:
855517
Concept ID:
C3890168
Disease or Syndrome
Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
MedGen UID:
1708832
Concept ID:
C5393312
Disease or Syndrome
Developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85) is an X-linked neurologic disorder characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. The seizures tend to show a cyclic pattern with clustering. Many patients have midline brain defects on brain imaging, including thin corpus callosum and/or variable forms of holoprosencephaly (HPE). The severity and clinical manifestations are variable. Almost all reported patients are females with de novo mutations predicted to result in a loss of function (LOF). However, some patients may show skewed X inactivation, and the pathogenic mechanism may be due to a dominant-negative effect. The SMC1A protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; DEE85 can thus be classified as a 'cohesinopathy' (summary by Symonds et al., 2017 and Kruszka et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Nizon-Isidor syndrome
MedGen UID:
1715748
Concept ID:
C5394350
Disease or Syndrome
Nizon-Isidor syndrome (NIZIDS) is a neurodevelopmental disorder characterized by global developmental delay, mildly delayed walking, poor speech and language, variably impaired intellectual development, and behavioral abnormalities, such as autistic features or attention deficit-hyperactivity disorder (ADHD). Some patients may have additional features, including nonspecific facial dysmorphism, gastrointestinal difficulties, distal hand anomalies, and thin corpus callosum on brain imaging (summary by Nizon et al., 2019).
Oculogastrointestinal-neurodevelopmental syndrome
MedGen UID:
1779113
Concept ID:
C5543355
Disease or Syndrome
Oculogastrointestinal neurodevelopmental syndrome (OGIN) is characterized by microphthalmia and/or coloboma in association with other congenital anomalies, including imperforate anus, horseshoe kidney, and structural cardiac defects. Hearing loss and severe developmental delay are also observed in most patients (Zha et al., 2020; Mor-Shaked et al., 2021).
Ferguson-Bonni neurodevelopmental syndrome
MedGen UID:
1794275
Concept ID:
C5562065
Disease or Syndrome
Ferguson-Bonni neurodevelopmental syndrome (FERBON) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay. Additional features may include dysmorphic facies, mild skeletal abnormalities, and hearing loss (summary by Ferguson et al., 2022).
Diamond-Blackfan anemia 21
MedGen UID:
1824003
Concept ID:
C5774230
Disease or Syndrome
Diamond-Blackfan anemia-21 (DBA21) is an autosomal recessive bone marrow failure syndrome that includes selective erythroid hypoplasia, anemia with transient thrombocytopenia, short stature, facial dysmorphism, limb abnormalities, cardiac defects, and intellectual disability (O'Donohue et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).

Professional guidelines

PubMed

Kupersmith MJ, Ying G
Br J Ophthalmol 2005 Oct;89(10):1330-4. doi: 10.1136/bjo.2004.063404. PMID: 16170126Free PMC Article

Recent clinical studies

Etiology

Bilici S, Harbigil-Sever T, Ugurbas SH
Arq Bras Oftalmol 2024;87(3):e20230028. Epub 2024 Mar 22 doi: 10.5935/0004-2749.2023-0028. PMID: 38537045
Manta AI, Jackson NJ, Dan J, Tran A, Rootman DB
Graefes Arch Clin Exp Ophthalmol 2023 Mar;261(3):849-855. Epub 2022 Sep 16 doi: 10.1007/s00417-022-05825-0. PMID: 36112219
Donaldson L, Issa M, Dezard V, Margolin E
Eur J Ophthalmol 2023 Jan;33(1):524-529. Epub 2022 Jun 9 doi: 10.1177/11206721221107300. PMID: 35686323Free PMC Article
Aytogan H, Ayıntap E
BMC Ophthalmol 2021 Dec 20;21(1):438. doi: 10.1186/s12886-021-02208-7. PMID: 34930168Free PMC Article
Lyon DB, Gonnering RS, Dortzbach RK, Lemke BN
Ophthalmic Plast Reconstr Surg 1993 Dec;9(4):237-40. doi: 10.1097/00002341-199312000-00002. PMID: 8305369

Diagnosis

Manta AI, Jackson NJ, Dan J, Tran A, Rootman DB
Graefes Arch Clin Exp Ophthalmol 2023 Mar;261(3):849-855. Epub 2022 Sep 16 doi: 10.1007/s00417-022-05825-0. PMID: 36112219
Donaldson L, Issa M, Dezard V, Margolin E
Eur J Ophthalmol 2023 Jan;33(1):524-529. Epub 2022 Jun 9 doi: 10.1177/11206721221107300. PMID: 35686323Free PMC Article
García de Oteyza G, de la Paz M, Charoenrook de la Fuente V
Arch Soc Esp Oftalmol 2016 Nov;91(11):556-558. Epub 2016 Apr 14 doi: 10.1016/j.oftal.2016.03.008. PMID: 27091291
Chen AD, Lai YW, Lai HT, Huang SH, Lee SS, Chang KP, Lai CS
Ann Plast Surg 2016 Mar;76 Suppl 1:S96-100. doi: 10.1097/SAP.0000000000000689. PMID: 26808763
Patel R, Harper-Shankie M, Patel E, Sivaswamy L
J Pediatr 2015 Nov;167(5):1160-60.e1. Epub 2015 Aug 15 doi: 10.1016/j.jpeds.2015.07.022. PMID: 26282241

Therapy

Manta AI, Jackson NJ, Dan J, Tran A, Rootman DB
Graefes Arch Clin Exp Ophthalmol 2023 Mar;261(3):849-855. Epub 2022 Sep 16 doi: 10.1007/s00417-022-05825-0. PMID: 36112219
De Larochellière E, Langley JM, Bata BM
J AAPOS 2022 Oct;26(5):278-280. Epub 2022 Sep 13 doi: 10.1016/j.jaapos.2022.07.004. PMID: 36108883
Aytogan H, Ayıntap E
BMC Ophthalmol 2021 Dec 20;21(1):438. doi: 10.1186/s12886-021-02208-7. PMID: 34930168Free PMC Article
Basilious A, Jivraj I, DeAngelis D
Ophthalmic Plast Reconstr Surg 2020 Jan/Feb;36(1):e16-e17. doi: 10.1097/IOP.0000000000001517. PMID: 31770175
Ralapanawa U, Kumarihamy P, Jayalath T, Udupihille J
J Med Case Rep 2019 Jul 20;13(1):221. doi: 10.1186/s13256-019-2157-x. PMID: 31324211Free PMC Article

Prognosis

Kuchalska K, Barełkowska M, Derwich K, Jończyk-Potoczna K, Gotz-Więckowska A
Childs Nerv Syst 2021 Apr;37(4):1243-1247. Epub 2020 Nov 10 doi: 10.1007/s00381-020-04966-z. PMID: 33174155Free PMC Article
Kayoma AH, Osaguona VB
West Afr J Med 2020 Dec;37(7):796-800. PMID: 33296490
Lew H, Goldberg RA
Plast Reconstr Surg 2016 Feb;137(2):296e-304e. doi: 10.1097/01.prs.0000475751.48462.b7. PMID: 26818319
Kersten RC, Bernardini FP, Khouri L, Moin M, Roumeliotis AA, Kulwin DR
Ophthalmic Plast Reconstr Surg 2005 Nov;21(6):412-6; discussion 416-7. doi: 10.1097/01.iop.0000180068.17344.80. PMID: 16304515
Doxanas MT
Ophthalmic Surg 1992 Aug;23(8):512-5. PMID: 1508480

Clinical prediction guides

Manta AI, Jackson NJ, Dan J, Tran A, Rootman DB
Graefes Arch Clin Exp Ophthalmol 2023 Mar;261(3):849-855. Epub 2022 Sep 16 doi: 10.1007/s00417-022-05825-0. PMID: 36112219
Snehi S, Kaur M, Singh AK, Thattarattody F, Raj S, Pandav SS, Kaushik S
Rom J Ophthalmol 2022 Apr-Jun;66(2):125-131. doi: 10.22336/rjo.2022.25. PMID: 35935082Free PMC Article
Ralapanawa U, Kumarihamy P, Jayalath T, Udupihille J
J Med Case Rep 2019 Jul 20;13(1):221. doi: 10.1186/s13256-019-2157-x. PMID: 31324211Free PMC Article
Bagheri A, Najmi H, Salim RE, Yazdani S
Orbit 2015 Apr;34(2):66-71. Epub 2014 Dec 4 doi: 10.3109/01676830.2014.982766. PMID: 25474275
Doxanas MT
Ophthalmic Surg 1992 Aug;23(8):512-5. PMID: 1508480

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