Myopia, and Blue sclerae

Diseases related with Myopia and Blue sclerae

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


Top matches:

High match PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE


Related symptoms:

  • Scoliosis
  • High palate
  • Visual impairment
  • Hypertension
  • Myopia


SOURCES: OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE

High match BRITTLE CORNEA SYNDROME 1; BCS1


Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea SyndromeBrittle cornea syndrome-2 (BCS2 ) is caused by mutation in the PRDM5 gene (OMIM ) on chromosome 4q27.

BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly|dysgenesis mesodermalis corneae et sclerae|corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|eds6b, formerly|fragilitas oculi with joint hyperextensibility

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Epicanthus
  • Myopia
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about BRITTLE CORNEA SYNDROME 1; BCS1

High match BRITTLE CORNEA SYNDROME


Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

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Other less relevant matches:

High match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

High match NEONATAL MARFAN SYNDROME


Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

High match EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1


The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Motor delay
  • Hypertension
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

High match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

High match MARFAN SYNDROME TYPE 1


MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

High match EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.

EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE Is also known as ehlers-danlos syndrome, type vii, autosomal recessive|eds7c|dermatosparaxis|ehlers-danlos syndrome type 7c|eds viic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE

High match SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY


Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by Smith et al., 1999). Patients with a similar phenotype and fractures have been described (Malfait et al., 2013).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY Is also known as spondyloepimetaphyseal dysplasia with joint laxity, beighton type|semdjl1|semdjl|semd-jl|spondyloepimetaphyseal dysplasia with joint laxity type 1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY

Top 5 symptoms//phenotypes associated to Myopia and Blue sclerae

Symptoms // Phenotype % cases
Joint hypermobility Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hyperextensible skin Common - Between 50% and 80% cases
Mitral valve prolapse Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Myopia and Blue sclerae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Joint laxity Cutis laxa Bruising susceptibility Pes planus Umbilical hernia High palate Inguinal hernia Soft skin Scarring Pectus carinatum Ectopia lentis Increased susceptibility to fractures Motor delay Epicanthus Joint hyperflexibility Muscular hypotonia Osteoporosis Micrognathia Visual loss Cleft palate Megalocornea Spondylolisthesis Generalized hypotonia Fragile skin Joint dislocation Dilatation Short stature Edema Hallux valgus Mitral regurgitation Hip dislocation High, narrow palate Arachnodactyly Kyphoscoliosis Talipes equinovarus Flexion contracture Disproportionate tall stature Hypertension Retinal detachment Hearing impairment High myopia

Rare Symptoms - Less than 30% cases


Visual impairment Small for gestational age Downslanted palpebral fissures Wide nasal bridge Arterial rupture Abnormality of the skeletal system Bladder diverticulum Brachydactyly Abnormal facial shape Abnormality of the foot Atrophic scars Atrial septal defect Osteopenia Global developmental delay Hyperkeratosis Patent ductus arteriosus Cardiomyopathy Intellectual disability Kyphosis Dolichocephaly Aortic root aneurysm Tricuspid regurgitation Premature rupture of membranes Redundant skin Intracranial hemorrhage Micromelia Striae distensae Short palm Growth delay Limb undergrowth Coxa valga Aortic dissection Severe short stature Bicuspid aortic valve Aortic aneurysm Abnormal cardiac septum morphology Retrognathia Proptosis Excessive wrinkled skin Ascending tubular aorta aneurysm Malar flattening Soft, doughy skin Hiatus hernia Medial calcification of medium-sized arteries Congenital hip dislocation Decreased corneal thickness Keratoglobus Molluscoid pseudotumors Angina pectoris Camptodactyly Keratoconus Intermittent claudication Sensorineural hearing impairment Hyperlordosis Arteriosclerosis Retinal hemorrhage Gastrointestinal hemorrhage Macular degeneration Gait disturbance Pectus excavatum Angioid streaks of the fundus Skin rash Abnormality of the dentition Microcornea Medial calcification of large arteries Reduced visual acuity Frontal bossing Abnormality of epiphysis morphology Hip dysplasia Glaucoma Premature occlusive vascular stenosis Hyperextensibility of the finger joints Recurrent fractures Peau d'orange Generalized arterial tortuosity Vomiting Large fontanelles Bicuspid pulmonary valve Depressed nasal bridge Thin skin Spontaneous pneumothorax Descending thoracic aorta aneurysm Long upper lip Joint stiffness Hypertrichosis Gastroesophageal reflux Microdontia Wide mouth Abnormal bone ossification Hirsutism Thick vermilion border Pulmonary artery aneurysm Everted lower lip vermilion Hypodontia Sepsis Premature birth Dislocated radial head Thoracic aortic aneurysm Hip subluxation Chest pain Medial calcification of small arteries Cupped ribs Hypertelorism Pain Hydrocephalus Syndactyly Pes cavus Polydactyly Short iliac bones Craniosynostosis Radial head subluxation Broad forehead Postaxial polydactyly Bifid uvula Dental crowding Absent distal phalanges Dermal translucency Ascending aortic dissection Mild myopia Protrusio acetabuli Dural ectasia Arterial tortuosity Gingival overgrowth High anterior hairline Exotropia Dilatation of the cerebral artery Advanced ossification of carpal bones Myopathic facies Arnold-Chiari malformation Narrow palate Joint contracture of the hand Short phalanx of finger Open bite Wide anterior fontanel Platyspondyly Tapered finger Short foot Spondyloepimetaphyseal dysplasia Flat face Paraplegia Genu valgum Erythematous papule Sparse scalp hair Skeletal dysplasia Prominent forehead 11 pairs of ribs Flared iliac wings Midface retrusion Long philtrum Short metacarpal Abnormality of the metaphysis Short neck Ovoid vertebral bodies Slender long bone Exostoses Carpal synostosis Spinal cord compression Pathologic fracture Radial bowing Short femoral neck Aganglionic megacolon Flared metaphysis Metatarsus adductus Metaphyseal widening Epiphyseal dysplasia Elbow dislocation Short long bone Decreased body weight Lethal skeletal dysplasia Ventricular septal defect Short toe Aphasia Abnormal joint morphology Prolonged bleeding time Broad distal phalanx of finger Short nail Lens luxation Delayed cranial suture closure Dysphasia Palpebral edema Irregular vertebral endplates Epiphora Rickets Mutism Coxa vara Oval face Osteomalacia Gingival bleeding Large iliac wings Hypoplastic iliac body Abnormality of primary molar morphology Recurrent mandibular subluxations Flaring of rib cage Frontal open bite Abnormality of subcutaneous fat tissue Spontaneous neonatal pneumothorax Gingival hyperkeratosis Esophagitis Enlarged naris Blepharochalasis Femoral hernia Avascular necrosis of the capital femoral epiphysis Delayed closure of the anterior fontanelle Generalized edema Echolalia Abnormal atrioventricular valve morphology Cerebral calcification Subretinal fluid Feeding difficulties Neonatal respiratory distress Heart murmur Adducted thumb Decreased testicular size Deeply set eye Hyporeflexia Low-set ears Long fingers Aortic rupture Abnormal eye morphology High-frequency sensorineural hearing impairment Keloids Cleft soft palate Follicular hyperkeratosis Difficulty climbing stairs Emphysema Lipoatrophy Poor suck Increased arm span Periodontitis Infantile muscular hypotonia Recurrent urinary tract infections Osteoarthritis Inflammatory abnormality of the skin Asthma Crumpled ear Hypoxemia Talipes calcaneovarus Abnormal cardiac ventricle morphology Iridodonesis Tricuspid valve prolapse Enlarged thorax Long toe Abnormal echocardiogram Congenital muscular dystrophy Easy fatigability Generalized joint laxity Atypical scarring of skin Conductive hearing impairment Palmoplantar cutis laxa Talipes valgus Red hair Dentinogenesis imperfecta Buphthalmos Reduced bone mineral density Myalgia Lumbar hyperlordosis Talipes Macrocephaly Yellow papule Calcification of falx cerebri Abnormality of the sternum Cerebral hemorrhage Neonatal hypotonia Pulmonic stenosis Poor head control Myopathy Severe muscular hypotonia Hypotelorism Sloping forehead Waddling gait Muscular dystrophy Elevated serum creatine phosphokinase Skeletal muscle atrophy Corneal dystrophy Muscle weakness Abnormality of hair pigmentation Flat cornea Shoulder dislocation Corneal scarring Corneal erosion Sclerocornea Varicose veins Rectal prolapse Peripapillary chorioretinal atrophy Drusen Redundant neck skin Restrictive cardiomyopathy Lack of skin elasticity Peripheral arterial stenosis Abnormality of the cerebral vasculature Mitral stenosis Thickened nuchal skin fold Abnormal mitral valve morphology Abnormality of the mouth Severe intrauterine growth retardation Severe vision loss Telangiectasia of the skin Multiple lipomas Chorioretinal atrophy Abnormal retinal morphology Abnormal thrombocyte morphology Pulmonary edema Coronary artery atherosclerosis Accelerated atherosclerosis Generalized arterial calcification Localized skin lesion Hyperkeratotic papule Arterial calcification Subcutaneous calcification Vascular calcification Civatte bodies Arterial stenosis Abnormality of connective tissue Renovascular hypertension Metamorphopsia Abnormal endocardium morphology Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Hypermelanotic macule Cutis marmorata Poor wound healing Subcutaneous spheroids Congestive heart failure Blindness Intrauterine growth retardation Membranous ventricular septal aneurysm Premature birth following premature rupture of fetal membranes Hyperextensibility of the knee Hyperextensibility at elbow Abnormality of cardiovascular system morphology Bowel diverticulosis Irregularly spaced teeth Myxomatous mitral valve degeneration Narrow maxilla Cigarette-paper scars Lop ear Eczematoid dermatitis Renal insufficiency Hypothyroidism Hemiplegia/hemiparesis Myocardial infarction Acne Abnormality of the thorax Ischemic stroke Atherosclerosis Nephrocalcinosis Subcutaneous nodule Abnormality of the cardiovascular system Retinopathy Abnormality of the skin Sudden cardiac death Postural instability Abnormality of skin pigmentation Pruritus Papule Stroke Delayed proximal femoral epiphyseal ossification



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