Epicanthus, and Retinal detachment

Diseases related with Epicanthus and Retinal detachment

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

Top matches:

Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.

AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT Is also known as stickler syndrome, type i, predominantly ocular|stickler syndrome, atypical

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Visual impairment
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

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

Other less relevant matches:

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

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

Medium match KNOBLOCH SYNDROME

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Medium match MARSHALL SYNDROME

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

Top 5 symptoms//phenotypes associated to Epicanthus and Retinal detachment

Symptoms // Phenotype % cases
Myopia Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Glaucoma Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microphthalmia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Epicanthus and Retinal detachment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Generalized hypotonia Seizures Global developmental delay Wide nasal bridge Visual loss Leukemia Macrocephaly Micrognathia Strabismus Nystagmus Hearing impairment Vitreoretinopathy Visual impairment Blindness Low-set ears Microcephaly Osteoarthritis Thick vermilion border Joint laxity Hydrocephalus Ventriculomegaly Joint hypermobility Ectopia lentis High myopia Short stature Spasticity Muscular hypotonia Frontal bossing Optic atrophy Anteverted nares Lymphedema Edema Hypertonia Long philtrum Amblyopia Protruding ear Hernia Blue sclerae Syndactyly Abnormal vitreous humor morphology Hypertelorism Aplasia cutis congenita Congenital cataract Anophthalmia Polymicrogyria Abnormal facial shape

Rare Symptoms - Less than 30% cases

Skin ulcer Lens luxation Patent ductus arteriosus Aplasia cutis congenita of scalp Cutis marmorata telangiectatica congenita Retinal fold Thick lower lip vermilion Abnormality of the hair Muscle stiffness Pointed chin Growth delay Deeply set eye Cutis marmorata Abnormal heart morphology Scaling skin Abnormality of retinal pigmentation Thickened skin Subcutaneous nodule Abnormality of the nervous system Status epilepticus Depressivity Sloping forehead Specific learning disability Venous thrombosis Abnormal eyelash morphology Cellulitis Sensorineural hearing impairment Cerebral atrophy Alopecia Overgrowth Bulbous nose Vesicoureteral reflux Cleft palate Hypoplasia of the corpus callosum Varicose veins Cortical dysplasia Chorioretinal atrophy Dilatation Motor delay Underdeveloped supraorbital ridges Intrauterine growth retardation Downslanted palpebral fissures Melanonychia Chorioretinal dysplasia Panniculitis Erysipelas Abnormal nasolacrimal system morphology Chylothorax Retinal dysplasia Abnormal toenail morphology Gangrene Midface retrusion Lymphoma Leukonychia Full cheeks Deep philtrum Soft skin Hyperextensible skin Reduced bone mineral density Mitral valve prolapse Abnormality of the dentition Retinal dystrophy Microcornea Hyperextensibility of the finger joints Pes planus Prominent forehead Flexion contracture Genu valgum Nyctalopia Skeletal dysplasia Retrognathia Spondylolisthesis Scoliosis Ptosis Molluscoid pseudotumors Upslanted palpebral fissure Severe short stature Rigidity Retinopathy Dry skin Wide nose Atrial septal defect Reduced visual acuity Aggressive behavior Narrow palpebral fissure Cerebral palsy Dermal atrophy Short lower limbs Short finger Corpus callosum atrophy Periventricular leukomalacia Subcutaneous hemorrhage Attention deficit hyperactivity disorder Retrocerebellar cyst High-pitched cry Perisylvian polymicrogyria Skin erosion Adactyly Retinal nonattachment Asymmetric growth Intellectual disability, severe Neonatal hypotonia Intellectual disability, mild Thin upper lip vermilion Hyperactivity Macrotia Right aortic arch Mandibular prognathia Arterial stenosis Low anterior hairline Facial hemangioma Capillary malformation Cerebellar hypoplasia Absent frontal sinuses Hypoplastic frontal sinuses Calcification of falx cerebri Macrodontia of permanent maxillary central incisor Irregular proximal tibial epiphyses Irregular distal femoral epiphysis Wide tufts of distal phalanges Small proximal tibial epiphyses Meningeal calcification Small distal femoral epiphysis Delayed speech and language development Brachydactyly Hemangioma Vascular ring Agenesis of corpus callosum Hypermetropia Posteriorly rotated ears Displacement of the external urethral meatus Progressive macrocephaly Muscular hypotonia of the trunk Short distal phalanx of finger Short foot Single transverse palmar crease Gliosis Leukocoria Wide intermamillary distance Oligohydramnios Small nail Wide anterior fontanel Hemimegalencephaly Corneal opacity Large for gestational age Abnormality of digit Capillary hemangioma Postnatal growth retardation Stroke Broad forehead Arnold-Chiari malformation Finger syndactyly Toe syndactyly Smooth philtrum Oral cleft Postaxial polydactyly Ascites Nevus Abnormality of the skin Postaxial hand polydactyly Telangiectasia Multicystic kidney dysplasia Hypothyroidism Nephroblastoma Aplasia/Hypoplasia of the skin Shock Cutaneous syndactyly Multiple cafe-au-lait spots Purpura Anhidrotic ectodermal dysplasia Telangiectasia of the skin Severe failure to thrive Syringomyelia Nevus flammeus Arnold-Chiari type I malformation Severe postnatal growth retardation Cutis laxa Redundant skin High forehead Polydactyly Cavum septum pellucidum Arteriovenous malformation Bilateral sensorineural hearing impairment Pigmentary retinopathy Meningioma Large earlobe Abnormality of the lower limb Ischemic stroke Hemihypertrophy Bilateral ptosis Abnormality of the upper limb Broad nasal tip Atrial flutter Sleep disturbance Astigmatism Dilation of lateral ventricles Optic nerve hypoplasia Patent foramen ovale Arrhythmia Chorioretinal lacunae Megalencephaly Abnormality of cardiovascular system morphology Ventricular septal defect Cognitive impairment Failure to thrive Neoplasm Myopic astigmatism Flat occiput Exudative vitreoretinopathy Retinal thinning Prominent nasal tip Congenital microcephaly Cortical gyral simplification Agitation Ulnar bowing Pyloric stenosis Concave nasal ridge Hypertension Asthma Bruising susceptibility Abnormality of the foot Umbilical hernia Kyphoscoliosis Inguinal hernia Abnormality of the optic nerve Recurrent urinary tract infections Abnormal eyelid morphology Pleural effusion Abnormality of vision Abnormality of the eye Decreased corneal thickness Keratoglobus Inflammatory abnormality of the skin Joint dislocation Talipes valgus Generalized joint laxity Cigarette-paper scars Lop ear Eczematoid dermatitis Poor wound healing Rectal prolapse Bladder diverticulum Periodontitis Infantile muscular hypotonia Aortic dissection Hiatus hernia Aortic root aneurysm Fragile skin Atrophic scars Aortic aneurysm Palmoplantar cutis laxa Red hair Narrow maxilla Hypospadias Knee flexion contracture Rhizomelia Long eyelashes Coloboma Intellectual disability, moderate Pes cavus Cryptorchidism Chorioretinal coloboma Membranous vitreous appearance Erosive vitreoretinopathy Posterior vitreous detachment Rhegmatogenous retinal detachment Premature osteoarthritis Epiphora Precocious puberty Sclerocornea Dentinogenesis imperfecta Increased susceptibility to fractures Buphthalmos Atypical scarring of skin Megalocornea Keratoconus Disproportionate tall stature Hallux valgus Congenital hip dislocation Ectopia pupillae Lumbar hyperlordosis Talipes Pectus carinatum Scarring Hyperlordosis Monocular strabismus Periorbital fullness Premature rupture of membranes Myxomatous mitral valve degeneration Hypoplastic ilia Brachycephaly Flat face Hypotrichosis Platyspondyly Sparse hair Arthralgia Proptosis Hyperhidrosis Bifid uvula Malar flattening Short nose Abnormality of the skeletal system High palate Cephalocele Bifid ureter Hypoplasia of the maxilla Ectodermal dysplasia Peripapillary atrophy Sparse eyelashes Thick upper lip vermilion Hypoplasia of the zygomatic bone Radial bowing Pierre-Robin sequence Thickened calvaria Sparse eyebrow Coxa valga Esotropia Sparse and thin eyebrow Hypohidrosis Recurrent otitis media Sparse scalp hair Cerebral calcification Otitis media Occipital meningocele Exudative retinal detachment Arterial rupture Ataxia Thin skin Progressive visual loss Retinal degeneration Joint hyperflexibility Mental deterioration Cerebellar atrophy Membranous ventricular septal aneurysm Pachygyria Premature birth following premature rupture of fetal membranes Hyperextensibility of the knee Subcutaneous spheroids Hyperextensibility at elbow Bowel diverticulosis Irregularly spaced teeth Encephalocele Narrow face Cerebellar malformation Large forehead Phthisis bulbi Lymphangioma Band keratopathy Macular hypoplasia Total anomalous pulmonary venous return Anomalous pulmonary venous return Calvarial skull defect Horizontal nystagmus Meningocele Acute lymphoblastic leukemia Occipital encephalocele Absent septum pellucidum Dextrocardia Corneal dystrophy Macular degeneration Blue nevus


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