Arthritis, and Microcornea

Diseases related with Arthritis and Microcornea

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


Top matches:

Medium match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Low match OTODENTAL SYNDROME


Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

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Other less relevant matches:

Low match CATARACT 23, MULTIPLE TYPES; CTRCT23


Mutation in the CRYBA4 gene has been found in families with cataract described as congenital, lamellar, and nuclear.

CATARACT 23, MULTIPLE TYPES; CTRCT23 Is also known as cataract 23, multiple types, with or without microcornea

Related symptoms:

  • Cataract
  • Microphthalmia
  • Microcornea
  • Nuclear cataract
  • Lamellar cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 23, MULTIPLE TYPES; CTRCT23

Low match CATARACT 1, MULTIPLE TYPES; CTRCT1


Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene.Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1.

CATARACT 1, MULTIPLE TYPES; CTRCT1 Is also known as cataract 1, multiple types, with or without microcornea|czp1|czp|cae1|cataract, duffy-linked|cataract, zonular pulverulent, 1

Related symptoms:

  • Cataract
  • Microphthalmia
  • Congenital cataract
  • Microcornea
  • Posterior subcapsular cataract


SOURCES: MESH OMIM MENDELIAN

More info about CATARACT 1, MULTIPLE TYPES; CTRCT1

Low match COLOBOMATOUS MICROPHTHALMIA


Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.

COLOBOMATOUS MICROPHTHALMIA Is also known as mac|microphthalmia, colobomatous, isolated 1|microphthalmia-anophthalmia-coloboma syndrome|microphthalmia with colobomatous cyst

Related symptoms:

  • Microphthalmia
  • Coloboma
  • Microcornea
  • Anophthalmia
  • Increased intraocular pressure


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA

Low match COLOBOMA OF OPTIC NERVE


Related symptoms:

  • Microphthalmia
  • Coloboma
  • Retinal detachment
  • Microcornea
  • Optic nerve coloboma


SOURCES: OMIM MENDELIAN

More info about COLOBOMA OF OPTIC NERVE

Low match CATARACT 34, MULTIPLE TYPES; CTRCT34


Mutations in the FOXE3 gene have been found to cause multiple types of cataract, which have been described as membranous and posterior subcapsular.

CATARACT 34, MULTIPLE TYPES; CTRCT34 Is also known as cataract, autosomal recessive congenital 3|cataract 34, multiple types, with or without microcornea|catc3

Related symptoms:

  • Nystagmus
  • Cataract
  • Corneal opacity
  • Congenital cataract
  • Microcornea


SOURCES: OMIM MESH MENDELIAN

More info about CATARACT 34, MULTIPLE TYPES; CTRCT34

Low match CATARACT 3, MULTIPLE TYPES; CTRCT3


Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal.Before it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2.

CATARACT 3, MULTIPLE TYPES; CTRCT3 Is also known as cataract 3, multiple types, with or without microcornea|cataract, congenital, cerulean type, 2|cca2

Related symptoms:

  • Cataract
  • Visual impairment
  • Microphthalmia
  • Congenital cataract
  • Microcornea


SOURCES: OMIM MENDELIAN

More info about CATARACT 3, MULTIPLE TYPES; CTRCT3

Low match CATARACT-MICROCORNEA SYNDROME


Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism.

Related symptoms:

  • Nystagmus
  • Cataract
  • Myopia
  • Corneal opacity
  • Iris coloboma


SOURCES: MESH ORPHANET MENDELIAN

More info about CATARACT-MICROCORNEA SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Microcornea

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Subcapsular cataract Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Congenital cataract Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Microcornea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Coloboma Myopia Nystagmus Retinal detachment Iris coloboma Posterior subcapsular cataract

Rare Symptoms - Less than 30% cases


Visual loss Retrognathia Long face Gastroesophageal reflux Pectus excavatum Mitral valve prolapse Hernia Dilatation Intellectual disability Pes planus Joint laxity Kyphosis Stroke Disproportionate tall stature Arachnodactyly Joint hypermobility High, narrow palate Gingival overgrowth Exotropia Tall stature Malar flattening Kyphoscoliosis Edema Macrodontia High palate Strabismus Visual impairment Sensorineural hearing impairment Abnormality of the skeletal system Corneal opacity Downslanted palpebral fissures Scoliosis Generalized hypotonia Nuclear cataract Hearing impairment Camptodactyly Flexion contracture Emphysema Epiphora Large for gestational age Rocker bottom foot Peripheral neuropathy Hammertoe Heart murmur Congenital contracture Aortic aneurysm Open bite Pain Decreased muscle mass Restrictive ventilatory defect Redundant skin Reduced subcutaneous adipose tissue Abnormality of the sternum Slender finger Striae distensae Aortic root aneurysm Muscle weakness Dilatation of the cerebral artery Slender toe Megalocornea Subarachnoid hemorrhage Hypoplasia of the iris Arachnoid cyst Ectopia lentis Narrow palate Back pain Clinodactyly Deeply set eye Glaucoma Hyperlordosis Pectus carinatum Dolichocephaly Pes cavus Peripheral axonal neuropathy Arrhythmia Polyneuropathy Chest pain Dental malocclusion Esotropia Overgrowth Abnormality of the cardiovascular system Cardiomegaly Sleep apnea Mitral regurgitation Abnormality of cardiovascular system morphology Congestive heart failure Abnormal lung morphology Decreased body weight Dental crowding Myopathy Amblyopia Respiratory insufficiency Narrow face Elbow flexion contracture Spontaneous abortion Apnea Aortic regurgitation Meningocele Dural ectasia Obstructive sleep apnea Ankylosis High-frequency sensorineural hearing impairment Pulp stones High-frequency hearing impairment Retinal coloboma Periodontitis Taurodontia Increased number of teeth Lens coloboma Progressive sensorineural hearing impairment Progressive hearing impairment Abnormality of dental enamel Hypoplasia of dental enamel Bilateral sensorineural hearing impairment Ectodermal dysplasia Odontoma Agenesis of premolar Hypodontia Nuclear pulverulent cataract Sutural cataract Cerulean cataract Membranous cataract Optic nerve coloboma Increased intraocular pressure Anophthalmia Zonular cataract Otitis media with effusion Pulverulent cataract Lamellar cataract Abnormality of the dental pulp Abnormality of molar morphology Abnormality of canine Abnormality of the maxilla Full cheeks Delayed eruption of teeth Thoracic kyphosis Hypoplasia of the musculature Hypoplastic philtrum Tricuspid valve prolapse Endocarditis Thoracic aortic aneurysm Overbite Ascending tubular aorta aneurysm Pneumothorax Premature osteoarthritis Homocystinuria Low back pain Pulmonary edema Spondylolisthesis Aortic dissection Genu recurvatum Protrusio acetabuli Hypopnea Carious teeth Pulmonary artery dilatation Long philtrum Abnormality of the dentition Anteverted nares Inferior oblique muscle overaction Medial rotation of the medial malleolus Mitral annular calcification Incisional hernia Flat cornea Increased axial length of the globe Anisometropia Overjet Spontaneous pneumothorax Cystic medial necrosis Microspherophakia Hypertropia Cat cry Recurrent aphthous stomatitis Childhood-onset truncal obesity Delayed puberty Postnatal growth retardation Respiratory tract infection Protruding ear Paralysis Wide mouth Retinopathy Nyctalopia Short philtrum Prominent nasal bridge Small for gestational age Finger syndactyly Neurological speech impairment Severe global developmental delay Synophrys Genu valgum Intellectual disability, moderate Small hand Short metacarpal Hypoplasia of the maxilla Neutropenia Single transverse palmar crease Tapered finger Highly arched eyebrow Thick vermilion border Joint hyperflexibility Retinal dystrophy Thick eyebrow Abnormality of skin pigmentation Retinal degeneration Astigmatism Smooth philtrum Feeding difficulties in infancy Growth hormone deficiency Muscular hypotonia Optic atrophy Intrauterine growth retardation Depressed nasal bridge Motor delay Ptosis Cryptorchidism Abnormal facial shape Ventricular septal defect Failure to thrive Hypertelorism Growth delay Microcephaly Short stature Global developmental delay Macrocephaly Respiratory distress Neonatal hypotonia Rod-cone dystrophy Thin upper lip vermilion Macrotia Mandibular prognathia Hypothyroidism Reduced visual acuity Diabetes mellitus Cerebellar hypoplasia Cardiomyopathy Clinodactyly of the 5th finger Obesity Thrombocytopenia Recurrent infections Behavioral abnormality Blindness Prominent nose Aciduria Macrodontia of permanent maxillary central incisor Misalignment of teeth Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Facial hypotonia Tapetoretinal degeneration Vocal cord paralysis Microglossia Gingivitis Hiatus hernia Peripheral visual field loss Thoracic scoliosis Seizures Thick hair Celiac disease Hemeralopia Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Cutis gyrata of scalp Iris atrophy Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Bull's eye maculopathy Weak cry Narrow nasal bridge Otitis media Open mouth Low anterior hairline Preauricular skin tag Progressive microcephaly Abnormality of retinal pigmentation Long eyelashes Clumsiness Lumbar hyperlordosis Sandal gap High myopia Decreased fetal movement Narrow forehead Pigmentary retinopathy Progressive visual loss Convex nasal ridge Intellectual disability, progressive Leukopenia Abnormality of the hip bone Failure to thrive in infancy Truncal obesity Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Cubitus valgus Rheumatoid arthritis Intracranial hemorrhage Venous thrombosis Radioulnar synostosis Precocious puberty Short metatarsal Reduced number of teeth Laryngomalacia Recurrent skin infections Corneal dystrophy



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