Epicanthus, and Falls
Diseases related with Epicanthus and Falls
In the following list you will find some of the most common rare diseases related to Epicanthus and Falls that can help you solving undiagnosed cases.
Top matches:
High match RENAL AGENESIS, BILATERAL
Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.
RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra
Related symptoms:
- Hypertelorism
- Abnormal facial shape
- Cleft palate
- Cryptorchidism
- Low-set ears
SOURCES: OMIM ORPHANET MENDELIAN
More info about RENAL AGENESIS, BILATERALNoonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome
Related symptoms:
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
- Growth delay
SOURCES: ORPHANET OMIM MENDELIAN
More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIAHigh match MOWAT-WILSON SYNDROME; MOWS
Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.
MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MENDELIAN
More info about MOWAT-WILSON SYNDROME; MOWSOther less relevant matches:
High match SMITH-MAGENIS SYNDROME; SMS
SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about SMITH-MAGENIS SYNDROME; SMS
High match CARDIOFACIOCUTANEOUS SYNDROME
Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.
CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MENDELIAN
More info about CARDIOFACIOCUTANEOUS SYNDROMELow match POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY
Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.
POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY Is also known as schlichting dystrophy|corneal endothelial dystrophy 1, autosomal dominant, formerly|ppcd|ched1, formerly|posterior polymorphous dystrophy|maumenee corneal dystrophy|posterior polymorphous corneal dystrophy|corneal dystrophy, hereditary polymorphous poster
Related symptoms:
- Edema
- Glaucoma
- Photophobia
- Corneal opacity
- Falls
SOURCES: OMIM ORPHANET MENDELIAN
More info about POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHYLow match VERVERI-BRADY SYNDROME; VERBRAS
Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Growth delay
More info about VERVERI-BRADY SYNDROME; VERBRAS
Low match MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11
Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly
Related symptoms:
- Generalized hypotonia
- Hypertelorism
- Micrognathia
- Muscle weakness
- Ptosis
More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11
Low match LENNOX-GASTAUT SYNDROME
Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Ptosis
- Low-set ears
SOURCES: OMIM ORPHANET MENDELIAN
More info about LENNOX-GASTAUT SYNDROMELow match GIANT AXONAL NEUROPATHY
Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.
GIANT AXONAL NEUROPATHY Is also known as gan
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MENDELIAN
More info about GIANT AXONAL NEUROPATHYTop 5 symptoms//phenotypes associated to Epicanthus and Falls
| Symptoms // Phenotype | % cases |
|---|---|
| Hypertelorism | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Low-set ears | Common - Between 50% and 80% cases |
| Generalized hypotonia | Common - Between 50% and 80% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
Other less frequent symptoms
Patients with Epicanthus and Falls. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
PtosisUncommon Symptoms - Between 30% and 50% cases
High forehead Abnormality of cardiovascular system morphology Poor suck Seizures Cryptorchidism Short stature Posteriorly rotated ears Growth delay Behavioral abnormality Macrocephaly Gastroesophageal reflux Frontal bossing Abnormal facial shape Downslanted palpebral fissures Abnormality of the kidney Delayed speech and language development Edema Microcephaly Motor delay Failure to thrive Strabismus Feeding difficulties Macrotia Prominent forehead Pectus excavatum Polyhydramnios Inguinal hernia Scoliosis Pectus carinatum Intellectual disability, severe Micrognathia Abnormality of the dentition EEG abnormality Aggressive behavior Mandibular prognathia Cerebral cortical atrophy Constipation Abnormal heart morphology Short nose Hypoplasia of the corpus callosum Pulmonic stenosis Ventriculomegaly Wide nasal bridge High palate Pain Nystagmus Hearing impairment Short attention span Fine hair Esotropia Joint hypermobility Atrial septal defect Ataxia Anteverted nares Depressed nasal bridge Cleft palate Abnormality of the genitourinary system Muscular hypotoniaRare Symptoms - Less than 30% cases
Anxiety Telecanthus Unsteady gait Abnormal cardiac septum morphology Woolly hair Autistic behavior Deeply set eye Neurological speech impairment Abnormality of the cerebral white matter Genu valgum Everted lower lip vermilion Sleep disturbance Hydronephrosis Respiratory tract infection Long face Full cheeks Abdominal distention Abnormality of the cardiovascular system Depressivity Decreased fetal movement Frequent falls Vomiting Ventricular septal defect Short neck Autism Dental malocclusion Curly hair Open bite Delayed eruption of teeth Focal-onset seizure Vesicoureteral reflux Upslanted palpebral fissure Cataract Peripheral neuropathy Atypical absence seizures Myopia Intrauterine growth retardation Hypertension Malar flattening Bruxism Abnormality of the gastrointestinal tract Areflexia Chronic constipation Clinodactyly of the 5th finger Pes cavus Drowsiness Otitis media Submucous cleft hard palate Brachycephaly Hyperactivity Pes planus Cupped ear Talipes equinovarus Sparse eyebrow Peripheral axonal neuropathy Drooling Aplasia/Hypoplasia of the corpus callosum Dry skin Open mouth Coarctation of aorta Abnormal eyebrow morphology Encephalopathy Cubitus valgus Neurodevelopmental delay Abnormality of the foot Failure to thrive in infancy Low-set, posteriorly rotated ears Feeding difficulties in infancy Thick upper lip vermilion Postnatal growth retardation Sparse hair Leukemia Hypermetropia Deep philtrum Deep palmar crease Pleural effusion Ectropion Lymphedema Cafe-au-lait spot Hyperpigmentation of the skin Low posterior hairline Astigmatism Relative macrocephaly Bruising susceptibility Webbed neck Abnormal bleeding Bilateral ptosis Cerebral atrophy Thick vermilion border Optic atrophy Dysphagia Dysarthria Long philtrum Respiratory distress Splenomegaly Cardiomyopathy Thrombocytopenia Oculomotor apraxia Abnormal mitral valve morphology Gastrointestinal dysmotility Endocarditis Sparse eyelashes Inflammatory abnormality of the skin Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Frontal balding Abnormality of the testis Abnormality of the optic nerve Slow-growing hair Abnormal palate morphology Thickened helices Hemangioma Cerebral visual impairment Abnormality of hair texture Aspiration Excessive wrinkled skin Abnormality of the nail Sleep apnea Thickened skin Abnormality of the pulmonary artery Cutis laxa Narrow palate Cavernous hemangioma Multiple lentigines Decreased body weight Sparse or absent eyelashes Hyperextensibility of the finger joints Increased nuchal translucency Abnormal aortic valve morphology Subvalvular aortic stenosis Abnormal hair pattern Delayed gross motor development Generalized hyperpigmentation Obsessive-compulsive behavior Growth hormone deficiency Progressive visual loss Abnormal eyelash morphology Narrow forehead Alopecia of scalp Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Anal stenosis Cardiomegaly Arnold-Chiari type I malformation Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Absent eyebrow Abnormality of the sternum Infantile spasms Neurofibromas Large for gestational age Aplasia/Hypoplasia of the eyebrow Hydroureter Intestinal malrotation Nevus Dystrophic fingernails Abnormality of skin pigmentation Optic nerve hypoplasia Palmoplantar hyperkeratosis Hemiparesis Malnutrition Abnormality of vision Hyperextensible skin Redundant skin Abnormality of the ulna Myocardial infarction Brittle hair Scaling skin Palmoplantar keratoderma Bulbous nose Melanocytic nevus Chronic otitis media Heart murmur Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Retinal dystrophy Hepatic steatosis Enlarged kidney High, narrow palate Premature birth Thin upper lip vermilion Anterior creases of earlobe CNS infection Spastic paraplegia Abnormal pyramidal sign Distal muscle weakness Facial palsy Proximal muscle weakness Difficulty walking Babinski sign Cerebellar atrophy Abnormality of the skeletal system Skeletal muscle atrophy Hyperreflexia Spasticity EEG with focal sharp slow waves Frontotemporal cerebral atrophy Paraplegia Personality disorder Abnormality of brainstem morphology Generalized tonic seizures Enlarged cisterna magna Abnormality of the periventricular white matter Atonic seizures Tented upper lip vermilion Intellectual disability, progressive Gingival overgrowth Epileptic encephalopathy Generalized myoclonic seizures Generalized tonic-clonic seizures Mental deterioration Limb muscle weakness Distal amyotrophy Recurrent respiratory infections Decreased number of peripheral myelinated nerve fibers Abnormality of the Achilles tendon Pili canaliculi Abnormality of the pituitary gland Curly eyelashes Abnormal hand morphology Red hair Hyporeflexia of lower limbs Morphological abnormality of the pyramidal tract Areflexia of lower limbs Bulbar signs Motor axonal neuropathy Facial diplegia Axonal loss Amyotrophic lateral sclerosis Distal sensory impairment Brisk reflexes Sensory axonal neuropathy Steppage gait Abnormality of the hand CNS hypomyelination Spastic paraparesis Paraparesis Sensorimotor neuropathy Fasciculations Abnormality of the hair Sensory impairment Abnormal cerebellum morphology Polyneuropathy Sensory neuropathy Myoclonus Fatigable weakness Abnormality of the optic disc Abnormality of the auditory canal Increased intraocular pressure Keratoconus Keratitis Epiphora Corneal dystrophy Overgrowth Corneal opacity Photophobia Glaucoma Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Inappropriate crying Anterior synechiae of the anterior chamber Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Ectopia pupillae Iris atrophy Weak cry Mildly elevated creatine phosphokinase Prominent occiput Multiple joint contractures Gowers sign Easy fatigability Narrow palpebral fissure Generalized muscle weakness Arthrogryposis multiplex congenita Apnea Neonatal hypotonia Respiratory insufficiency Flexion contracture Muscle weakness Impaired social interactions Intention tremor Band keratopathy Prominent nose Broad nasal tip Wide nose Smooth philtrum Wide mouth Abnormality of the nervous system Elevated serum creatine phosphokinase Intellectual disability, mild Tremor Polymorphous posterior corneal dystrophy Abnormal Descemet membrane morphology Uveal ectropion Thinning of Descemet membrane Corneal stromal edema Ichthyosis Stereotypy Hypotrichosis Juvenile myelomonocytic leukemia Patent ductus arteriosus Hypospadias Absent speech Dilatation Microphthalmia Syndactyly Diarrhea Fever Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Reduced factor XII activity Coloboma Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Agenesis of corpus callosum Camptodactyly of finger Facial hypotonia Postnatal microcephaly Supernumerary nipple Ectopic kidney Hallux valgus Rocker bottom foot Bifid scrotum Aplasia/Hypoplasia of the cerebellum Pyloric stenosis Widely spaced teeth Cutaneous syndactyly Absence seizures Pointed chin Aganglionic megacolon Short philtrum Abnormality of the genital system Recurrent otitis media Sparse scalp hair Sloping forehead Dehydration Tetralogy of Fallot Febrile seizures Brain atrophy Tapered finger Iris coloboma Cleft upper lip Finger syndactyly Hydrocele testis Decreased muscle mass Pulmonary artery stenosis Unilateral renal agenesis Urogenital fistula Nonketotic hypoglycemia Bilateral renal hypoplasia Abnormal sacrum morphology Bilateral renal agenesis Abnormality of female internal genitalia Vaginal atresia Bicornuate uterus Breech presentation Non-midline cleft lip Tracheoesophageal fistula Polycystic kidney dysplasia Urethral obstruction Abnormal intestine morphology Multicystic kidney dysplasia Renal dysplasia Depressed nasal ridge Primary amenorrhea Renal hypoplasia Oligohydramnios Renal agenesis Pulmonary hypoplasia Talipes Proteinuria Retrognathia Potter facies Sirenomelia Proximal placement of thumb Cyanosis Overfolded helix Abnormality of the thorax Cholelithiasis Bicuspid aortic valve Torticollis Vasculitis Bilateral single transverse palmar creases Aortic valve stenosis Hydrops fetalis Mitral regurgitation Epistaxis Hip dysplasia Bilateral renal dysplasia Wide intermamillary distance Lymphoma Triangular face Ascites Highly arched eyebrow Broad forehead Joint laxity Hepatosplenomegaly Myopathy Gait disturbance Cognitive impairment Fetal polyuria External ear malformation Low hanging columella Dolichocephaly Cavum septum pellucidum Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Hyperacusis Mood changes Recurrent aspiration pneumonia Excessive daytime sleepiness Velopharyngeal insufficiency Everted upper lip vermilion Recurrent ear infections Abnormal renal morphology Midline brain calcifications Abnormality of the larynx Broad face Duodenal atresia Self-mutilation Overweight Protruding tongue Impaired pain sensation Broad palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Impulsivity Abnormal tracheobronchial morphology Abnormality of the forearm Abnormality of the urinary system Hyperkeratosis Nail dystrophy Pruritus Scarring Erythema Irritability Abnormality of the eye Hypertrophic cardiomyopathy Umbilical hernia Coarse facial features Osteopenia Proptosis Hyperhidrosis Head-banging Alopecia Delayed skeletal maturation Hernia Kyphosis Congestive heart failure Hypertonia Blindness Hydrocephalus Hepatomegaly Neoplasm Sleep-wake inversion Frequent temper tantrums Self-injurious behavior Sacral dimple Misalignment of teeth Abnormal morphology of the hippocampus Hypothyroidism Hyporeflexia Clinodactyly Obesity Abnormality of metabolism/homeostasis Midface retrusion Brachydactyly Sensorineural hearing impairment Aplasia/Hypoplasia of the cerebral white matter Pulmonary artery sling Large basal ganglia Abnormal eye morphology Intellectual disability, moderate Generalized muscle hypertrophy Uplifted earlobe Happy demeanor Deep plantar creases Subglottic stenosis Broad eyebrow Prominent nasal tip Esodeviation Broad columella Broad hallux phalanx Large earlobe Tracheal stenosis Conductive hearing impairment Cleft lip Abnormality of the outer ear Hypertriglyceridemia Hypercholesterolemia Lissencephaly Increased body weight Hoarse voice Abnormal vertebral morphology Sinusitis Hypoplasia of dental enamel Heterotopia Pachygyria Omphalocele Broad-based gait Macroglossia Hyperlordosis Microcornea Single transverse palmar crease Retinal detachment Small hand Nephropathy Short palm Oral cleft Paresthesia Synophrys Lethargy Microtia Paralysis Diffuse axonal swellingIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Macroglossia, related diseases and genetic alterations Myopathy and Arthrogryposis multiplex congenita, related diseases and genetic alterations Epicanthus and Retinoblastoma, related diseases and genetic alterations