Ptosis, and Glaucoma

Diseases related with Ptosis and Glaucoma

In the following list you will find some of the most common rare diseases related to Ptosis and Glaucoma that can help you solving undiagnosed cases.


Top matches:

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5 Is also known as progressive external ophthalmoplegia, autosomal dominant 5

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Ptosis
  • Dysarthria
  • Fatigue


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5

Medium match UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY


Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

Medium match AGEL AMYLOIDOSIS


AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

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Other less relevant matches:

Medium match NANCE-HORAN SYNDROME


Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.

NANCE-HORAN SYNDROME Is also known as cataract-dental syndrome|mesiodens-cataract syndrome|cataract, x-linked, with hutchinsonian teeth

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Cataract


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NANCE-HORAN SYNDROME

Medium match COLOBOMA OF IRIS


Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular ColobomaA recessive form of ocular coloboma (OMIM ) is caused by mutation in the SALL2 gene (OMIM ) on chromosome 14q11.

COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina|coi|coloboma, uveoretinal

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMA OF IRIS

Medium match MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

Medium match ANTERIOR SEGMENT DYSGENESIS 1; ASGD1


Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Some patients with ASGD1 have been reported with the Peters anomaly subtype.In its simplist form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).

ANTERIOR SEGMENT DYSGENESIS 1; ASGD1 Is also known as anterior segment mesenchymal dysgenesis|asmd|anterior segment ocular dysgenesis|asod

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANTERIOR SEGMENT DYSGENESIS 1; ASGD1

Medium match MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA


Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

Low match WAGR SYNDROME


WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Low match ACROMELIC FRONTONASAL DYSOSTOSIS; AFND


Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSOSTOSIS; AFND

Top 5 symptoms//phenotypes associated to Ptosis and Glaucoma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Corneal opacity Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Microcornea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ptosis and Glaucoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Microphthalmia Microcephaly Visual impairment Peters anomaly Agenesis of corpus callosum Seizures Strabismus Micrognathia Cryptorchidism

Rare Symptoms - Less than 30% cases


Scoliosis Reduced visual acuity Renal insufficiency Hypertelorism Cardiomyopathy Everted lower lip vermilion Spasticity Telecanthus Behavioral abnormality Chorioretinal coloboma Abnormality of the dentition Anemia Short stature Ventriculomegaly Optic nerve coloboma Increased intraocular pressure Short nose Posterior embryotoxon Hearing impairment Retinal detachment Sensorineural hearing impairment Myopathy Abnormality of the genital system Exercise intolerance Congenital cataract Aplasia/Hypoplasia of the iris Myopia Cleft palate Coloboma Cleft upper lip Iris coloboma Cleft lip Aniridia EMG abnormality Mitochondrial myopathy Increased serum ferritin Microcytic anemia Ragged-red muscle fibers Progressive muscle weakness Acidosis Pallor Increased serum lactate Stroke Lactic acidosis Delayed puberty Myoclonus Failure to thrive Encephalopathy Rieger anomaly Hypoplasia of the iris Sclerocornea Corneal erosion Ectopia pupillae Abnormality of the optic nerve Corneal neovascularization Anterior segment developmental abnormality Abnormality of the hypothalamus-pituitary axis Anterior synechiae of the anterior chamber Macular hypoplasia Posterior polar cataract Polycoria Abnormality of metabolism/homeostasis Abnormality of the sense of smell Axenfeld anomaly Aphakia Macular hypopigmentation Distichiasis Muscle weakness Muscular hypotonia High palate Edema Kyphosis Long philtrum Stroke-like episode Abnormality of the genitourinary system Sideroblastic anemia Broad foot Broad nasal tip Encephalocele Heterotopia Wide anterior fontanel Oligodontia Preaxial polydactyly Bilateral cryptorchidism Overlapping toe Bilateral talipes equinovarus Hypopituitarism Facial cleft Lipoma Widow's peak Talipes Upper airway obstruction Preaxial foot polydactyly Bifid nasal tip Thick nail Bifid nose Patellar hypoplasia U-Shaped upper lip vermilion Parietal foramina Frontal balding Large sella turcica Midline defect of the nose Retrocerebellar cyst Choroid plexus cyst Wide nose Polydactyly Hypochromic anemia Hearing abnormality Cytochrome C oxidase-negative muscle fibers Erythroid hyperplasia Generalized limb muscle atrophy Chronic lactic acidosis Neoplasm Obesity Hypospadias Hypertrophic cardiomyopathy Leukemia Nephropathy Ambiguous genitalia Nephroblastoma Acute lymphoblastic leukemia Renal neoplasm Brachycephaly Hemihypertrophy Abnormality of the uterus Gonadoblastoma Abnormal vagina morphology Streak ovary Displacement of the external urethral meatus Dysfunction of lateral corticospinal tracts Motor delay Wide nasal bridge Abnormality of the skeletal system Talipes equinovarus Hypoplasia of the corpus callosum Syndactyly Iris hypopigmentation Tetraplegia Keratoconjunctivitis sicca Lattice corneal dystrophy Abnormal autonomic nervous system physiology Cutis laxa Corneal dystrophy Bulbar palsy Orthostatic hypotension Amyloidosis Abnormality of abdomen morphology Bulbar signs Facial paralysis Mild proteinuria Cardiac amyloidosis Nephrotic syndrome Bilateral facial palsy Generalized amyloid deposition Cognitive impairment Blindness Visual loss Autism Mandibular prognathia Macrotia Intellectual disability, moderate Protruding ear Autistic behavior Palpitations Hypotension Long face Progressive external ophthalmoplegia Dysarthria Fatigue Dysphagia Depressivity Hyporeflexia Gait ataxia Anxiety Ophthalmoplegia External ophthalmoplegia Bilateral ptosis Ophthalmoparesis Increased muscle fatiguability Polyneuropathy Multiple mitochondrial DNA deletions Optic atrophy Oral cleft Hematuria Bilateral cleft lip Bilateral cleft lip and palate Neural tube defect Peripheral neuropathy Proteinuria Paralysis Poor speech Prominent nasal bridge Short metacarpal Keratoconus Drooling Optic nerve aplasia Flexion contracture Congestive heart failure Abnormality of skin pigmentation Ataxia Sloping forehead Spastic tetraplegia Open mouth Decreased body weight Knee flexion contracture Adducted thumb Remnants of the hyaloid vascular system Cortical gyral simplification Muscle fibrillation Atrial septal defect Umbilical hernia Photophobia Short palpebral fissure Opacification of the corneal stroma Aplasia/Hypoplasia of the corpus callosum Optic nerve hypoplasia Ectopia lentis Keratitis Morning glory anomaly Aortic aneurysm Prominent nose Broad finger Short phalanx of finger Narrow face Widely spaced teeth Hypophosphatemia Blurred vision Narrow nasal bridge Increased number of teeth Severe vision loss Pendular nystagmus Anodontia Diastema Multiple impacted teeth Aganglionic megacolon Sutural cataract Mesiodens Posterior Y-sutural cataract Supernumerary maxillary incisor Screwdriver-shaped incisors Growth delay Abnormal facial shape Hypertension Dilatation Postnatal growth retardation Vesicoureteral reflux Vertical clivus



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