Epicanthus, and Mitral valve prolapse

Diseases related with Epicanthus and Mitral valve prolapse

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


Top matches:

High match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

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 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF


GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

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Other less relevant matches:

High match TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME


Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

High match 8P11.2 DELETION SYNDROME


8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

Medium 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

Medium match 6Q25 MICRODELETION SYNDROME


6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Medium match EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE


Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs

Related symptoms:

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

Medium match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Medium match EHLERS-DANLOS SYNDROME, VASCULAR TYPE


Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Top 5 symptoms//phenotypes associated to Epicanthus and Mitral valve prolapse

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Pes planus Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Epicanthus and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Joint laxity Joint hypermobility Talipes equinovarus Dilatation Blue sclerae Joint dislocation Hyperextensible skin Molluscoid pseudotumors Intellectual disability Generalized hypotonia Patent ductus arteriosus Soft skin Talipes Frontal bossing Downslanted palpebral fissures Macrocephaly Hernia Abnormal facial shape Keratoconus Retinal detachment Arterial rupture Bladder diverticulum Aortic dissection Aortic root aneurysm Varicose veins Atypical scarring of skin Aortic aneurysm Osteoarthritis Bruising susceptibility Neonatal hypotonia Microcephaly Growth delay Respiratory insufficiency Abnormal heart morphology Cryptorchidism Upslanted palpebral fissure Umbilical hernia Premature rupture of membranes Glaucoma Pectus excavatum Joint hyperflexibility Atrial septal defect Dolichocephaly Anteverted nares Ventricular septal defect High palate Arterial dissection Low-set ears Ptosis Abnormality of the dentition Hearing impairment Thin skin Myopia Scoliosis

Rare Symptoms - Less than 30% cases


Migraine Abnormality of the skeletal system Motor delay Gingival overgrowth Microcornea Depressed nasal bridge Intellectual disability, mild Overgrowth Micrognathia Seizures Subcutaneous nodule Deeply set eye Protruding ear Spina bifida occulta Spina bifida Tall stature Hypertension Hip dislocation Vertigo Cystocele Muscular hypotonia Gastrointestinal dysmotility Cigarette-paper scars Respiratory distress Hydrocephalus Generalized joint laxity Abnormality of cardiovascular system morphology Periodontitis Redundant skin Flexion contracture Fragile skin Osteolysis Abnormality of the gingiva Atrophic scars Ascending tubular aorta aneurysm Pain Aplasia/Hypoplasia of the abdominal wall musculature Gingivitis Abnormality of the foot Kyphoscoliosis Osteoporosis Abnormal bleeding Sensorineural hearing impairment Microdontia Palmoplantar cutis laxa Short palpebral fissure Telecanthus Abnormality of the pinna Wide mouth Wide nasal bridge Feeding difficulties Deep philtrum Smooth philtrum Renal cyst Triangular face Hyperlordosis Hyperextensibility of the finger joints Pectus carinatum Congenital hip dislocation High myopia Ventriculomegaly Strabismus Cognitive impairment Spondylolisthesis Renal dysplasia Short nose Agenesis of corpus callosum Disproportionate tall stature Internal hemorrhage Polyneuropathy Retinopathy Single transverse palmar crease Arachnodactyly Arteriovenous fistula Absent earlobe Unsteady gait Renovascular hypertension Generalized muscle weakness Subarachnoid hemorrhage Sepsis Gastrointestinal hemorrhage Colonic diverticula Prominent forehead Esotropia Oligohydramnios Decreased fetal movement Dental crowding Insulin resistance Abnormal oral frenulum morphology Joint contracture of the hand Recurrent pneumonia Increased body weight Osteopenia Gait disturbance Abnormality of metabolism/homeostasis Elbow dislocation Acrocyanosis Uterine rupture Striae distensae Uterine prolapse Keratoconjunctivitis sicca Decreased fertility Decreased nerve conduction velocity Foot acroosteolysis Arteriovenous fistulas of celiac and mesenteric vessels Abnormal palate morphology Hypoplastic lacrimal duct Premature delivery because of cervical insufficiency or membrane fragility Wormian bones Hemothorax Abnormality of the wrist Venous insufficiency Kyphosis Normal pressure hydrocephalus Congestive heart failure Myopathy Blindness Edema Visual impairment Peripheral arteriovenous fistula Muscle weakness Spontaneous pneumothorax Genital hernia Pulmonary artery aneurysm Tendon rupture Gingival recession Anorectal anomaly Coronary artery aneurysm Abnormality of the menstrual cycle Hyperbilirubinemia Aortic regurgitation Gastrointestinal infarctions Cardiac arrest Abnormality of the urinary system Transient ischemic attack Sleep apnea Abnormal intestine morphology Abnormally large globe Short chin Telangiectasia Rheumatoid arthritis Abnormality of the face Abnormality of the skin Premature birth Hematochezia High, narrow palate Flat face Hypokalemia Melanocytic nevus Abnormality of skin pigmentation Scleroderma Alopecia of scalp Premature loss of teeth Sprengel anomaly Esophageal atresia Hemoptysis Prematurely aged appearance Abnormal joint morphology Aplasia/Hypoplasia of the eyebrow Abnormal heart valve morphology Telangiectasia of the skin Narrow nasal bridge Abnormal eyelash morphology Narrow nose Macule Thin vermilion border Osteolytic defects of the phalanges of the hand Dermal translucency Intracranial hemorrhage Abnormal pupil morphology Pneumothorax Periorbital edema Premature loss of primary teeth Abnormality of the hip bone Heart murmur Arterial stenosis Subcutaneous hemorrhage Corneal dystrophy Dilatation of the cerebral artery Ocular pain Abnormality of hair texture Torticollis Excessive wrinkled skin Slender finger Lens luxation Carious teeth Hypospadias Reduced consciousness/confusion Aplasia/Hypoplasia of the earlobes Arthritis Proptosis Narrow mouth Alopecia Progressive congenital scoliosis Thoracic kyphoscoliosis Spontaneous rupture of the globe Decreased pulmonary function Moderate myopia Wrist drop Dural ectasia Keloids Tinnitus Subcutaneous spheroids Limitation of joint mobility Mitral stenosis Midface retrusion Neoplasm Infra-orbital crease Narrow philtrum Oval face Broad columella Low hanging columella Coloboma Inverted nipples Delayed ability to walk Hypoplastic left heart Flat occiput Narrow palate Pointed chin Macrotia Astigmatism Growth hormone deficiency Enlarged kidney Nystagmus Bifid ureter Renal malrotation Long hallux Retinal coloboma Long foot Large for gestational age Thick vermilion border Bowing of the legs Large hands Nephroblastoma Intestinal malrotation Round face Macroglossia Neutropenia Coarctation of aorta Poor speech Hypogonadism Pterygium Juvenile myelomonocytic leukemia Hypoplastic nasal bridge Myeloproliferative disorder Sagittal craniosynostosis Scaphocephaly Cystic hygroma Webbed neck Dysplastic pulmonary valve Pulmonic stenosis Leukemia Craniosynostosis Hypertrophic cardiomyopathy Polyhydramnios Posteriorly rotated ears Atrial septal dilatation Visual loss Hypermetropia Talipes valgus Hydronephrosis Coarse facial features Retrognathia Hypoplasia of the corpus callosum Decreased corneal thickness Keratoglobus Red hair Scarring Dentinogenesis imperfecta Buphthalmos Megalocornea Hallux valgus Increased susceptibility to fractures Reduced bone mineral density Lumbar hyperlordosis Splenomegaly Blepharophimosis Abdominal distention Abnormality of vision External genital hypoplasia Thoracic hypoplasia Mild short stature Tricuspid regurgitation Rocker bottom foot Patent foramen ovale Plagiocephaly Shallow orbits Interphalangeal joint contracture of finger Full cheeks Small hand Facial asymmetry Camptodactyly of finger Abnormality of the eye Anteriorly placed anus Ventricular extrasystoles Thin upper lip vermilion Myalgia Sleep disturbance Nausea Paresthesia Malabsorption Nausea and vomiting Apnea Arthralgia Secundum atrial septal defect Gastroesophageal reflux Constipation Arrhythmia Depressivity Vomiting Fatigue Abnormality of nervous system morphology Low-set, posteriorly rotated ears Clinodactyly of the 5th finger Iris coloboma External ear malformation Recurrent urinary tract infections Inflammatory abnormality of the skin Asthma Supernumerary ribs Spherocytosis Abnormality of the hypothalamus-pituitary axis Preauricular pit Ectopia lentis Anosmia Sacral dimple Azoospermia Hypogonadotrophic hypogonadism Hypoplasia of penis Retinal dystrophy Hemolytic anemia Infantile muscular hypotonia Hiatus hernia Malar flattening Hyperextensibility of the knee Long philtrum Intrauterine growth retardation Cleft palate Failure to thrive Membranous ventricular septal aneurysm Premature birth following premature rupture of fetal membranes Hyperextensibility at elbow Rectal prolapse Bowel diverticulosis Irregularly spaced teeth Myxomatous mitral valve degeneration Narrow maxilla Lop ear Eczematoid dermatitis Poor wound healing Hypermobility of distal interphalangeal joints



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