Downslanted palpebral fissures, and Myalgia

Diseases related with Downslanted palpebral fissures and Myalgia

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Myalgia that can help you solving undiagnosed cases.


Top matches:

High match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

High match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

High match CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA


Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

High match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Medium match SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME


Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

Medium match ONDINE SYNDROME


Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

Medium match NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION


NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

Medium match HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS


Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Medium match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Myalgia

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Downslanted palpebral fissures and Myalgia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Seizures Short stature Strabismus Cryptorchidism Ptosis Myopathy Muscular hypotonia Muscle weakness Scoliosis High palate Epicanthus Fever Flexion contracture Edema Kyphoscoliosis Feeding difficulties Obesity Myopathic facies Deeply set eye Depressivity Long face Dolichocephaly Prominent nasal bridge Constipation Cleft palate Decreased fetal movement Hyperhidrosis Neonatal hypotonia Narrow mouth Posteriorly rotated ears Talipes equinovarus Motor delay Microcephaly

Rare Symptoms - Less than 30% cases


Short philtrum Thin upper lip vermilion Triangular face Hyperactivity Inguinal hernia Vesicoureteral reflux Arthralgia Midface retrusion Aciduria Cyanosis Telecanthus Deep philtrum Thrombocytopenia Aganglionic megacolon Narrow face Underdeveloped nasal alae Attention deficit hyperactivity disorder Cerebellar atrophy Anxiety Respiratory distress Polyhydramnios Micropenis Upslanted palpebral fissure Broad nasal tip Astigmatism Ataxia Poor speech Short neck Respiratory tract infection Respiratory insufficiency Skeletal muscle atrophy Long philtrum Gastroesophageal reflux Cerebral atrophy Feeding difficulties in infancy Downturned corners of mouth Ventricular septal defect Optic atrophy Webbed neck Joint hypermobility Overfolded helix Pectus excavatum Malar flattening Blepharophimosis Kyphosis Low-set, posteriorly rotated ears Arachnodactyly Generalized muscle weakness Inverted nipples Failure to thrive Blue sclerae Cataract Wide nasal bridge Diarrhea Depressed nasal bridge Hyporeflexia Abnormality of the skeletal system Narrow palpebral fissure Elevated serum creatine phosphokinase Acidosis Splenomegaly Long palpebral fissure Metabolic acidosis Neurological speech impairment Lactic acidosis Arthrogryposis multiplex congenita Muscular dystrophy Postural instability Proximal muscle weakness Rigidity Inappropriate laughter Long toe Apnea Cognitive impairment Long fingers Increased body weight Short nose Self-mutilation Abnormal lung morphology Fine hair Language impairment Tics Abnormal autonomic nervous system physiology Fair hair Abnormality of the cardiovascular system Chronic pain Hypermetropia Multiple suture craniosynostosis Paralysis Syndactyly Fatigue Peripheral neuropathy Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Abnormal aortic arch morphology Facial asymmetry Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Finger syndactyly Paresthesia Broad forehead Neuritis Sparse hair Wide mouth Intellectual disability, severe Brachial plexus neuropathy Radial head subluxation Cutis gyrata of scalp Peripheral axonal degeneration Weak voice Bifid uvula Dysesthesia Polyphagia Facial paralysis Axonal degeneration Scapular winging Hoarse voice Hypotelorism Sensory impairment Sleep apnea Oligodontia Neuroblastoma Vomiting Skin rash Abnormality of the liver Abnormality of the nervous system Elevated hepatic transaminase Hypoglycemia Hepatosplenomegaly Cerebral cortical atrophy Abdominal pain Delayed skeletal maturation Hepatomegaly Malabsorption Anemia Nystagmus Broad chin Overfolding of the superior helices Horizontal eyebrow Oval face Pain insensitivity Delayed ability to walk Poor head control Leukemia Lymphadenopathy Short chin Agenesis of cerebellar vermis Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Normocytic anemia Extramedullary hematopoiesis Cholestatic liver disease Retinal dystrophy Organic aciduria Nuclear cataract Severe failure to thrive Petechiae Leukocytosis Large fontanelles Clumsiness Nevus Progressive cerebellar ataxia Abnormality of the genitourinary system Stereotypy Polycythemia Central hypoventilation Polydactyly Hypercapnia Abnormality of the autonomic nervous system Ganglioneuroblastoma Ganglioneuroma Snoring Triangular mouth Abnormality of temperature regulation Neoplasm of the central nervous system Abnormal pupil morphology Abnormal cardiac septum morphology Hypoxemia Chronic lung disease Abnormality of the endocrine system Chronic constipation Hypothermia Cardiorespiratory arrest Obstructive sleep apnea Abnormality of the mouth Hypoventilation Craniosynostosis Microtia Apraxia Dysarthria Delayed myelination Dysmetria Synophrys Muscular hypotonia of the trunk High forehead Prominent forehead Cerebellar hypoplasia Anteverted nares Dysphagia Delayed speech and language development Postaxial polydactyly Wide nasal ridge Sparse lateral eyebrow Thickened nuchal skin fold Overlapping toe Abnormal aortic valve morphology Bicuspid aortic valve Sacral dimple Open mouth Hip dysplasia Wide intermamillary distance Abnormality of the pharynx Gastrointestinal hemorrhage Abnormal thrombocyte morphology Diaphragmatic eventration Pneumonia Areflexia Clinodactyly Growth delay Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Congenital ptosis Respiratory arrest Respiratory failure Severe lactic acidosis Breech presentation Hyperphosphatemia Low hanging columella Thoracic kyphosis Malignant hyperthermia Myoglobinuria Scaphocephaly Recurrent respiratory infections Joint laxity Rhabdomyolysis Congenital muscular dystrophy Severe postnatal growth retardation Distal arthrogryposis Difficulty running Centrally nucleated skeletal muscle fibers Cystic hygroma Increased variability in muscle fiber diameter Bilateral cryptorchidism Mask-like facies Akinesia Facial palsy Pterygium Tented upper lip vermilion Scrotal hypoplasia External ophthalmoplegia Bradycardia Hydrops fetalis Single transverse palmar crease Pulmonary hypoplasia Ophthalmoplegia Acute kidney injury Abnormality of the sternum Facial diplegia Mitral regurgitation Fragile skin Bilateral talipes equinovarus Patent foramen ovale Hyperextensible skin Adducted thumb Delayed gross motor development Joint dislocation Dental crowding Mitral valve prolapse Hypoplasia of the musculature Bruising susceptibility Talipes Scarring Protruding ear Camptodactyly Brachycephaly Hernia Frontal bossing Facial hypotonia Hypertonia Hyperkalemia Hypotension Abnormality of the coagulation cascade Ventricular fibrillation Myotonia Ventricular arrhythmia Tachypnea Shock Lymphedema Lumbar hyperlordosis Abnormal bleeding Renal insufficiency Muscle cramps Tachycardia Limb muscle weakness Pectus carinatum Stroke Hyperlordosis Pes cavus Arrhythmia Dilatation Bell-shaped thorax Fetal akinesia sequence Seborrheic dermatitis Hypopigmented skin patches Chronic otitis media Abnormality of the thorax Hand polydactyly Cholelithiasis Polycystic kidney dysplasia Nasal speech Laryngomalacia Schizophrenia Purpura Dysphasia Abnormality of dental enamel Hypocalcemia Spina bifida Choanal atresia Renal hypoplasia Tetralogy of Fallot Specific learning disability Intestinal malrotation Acne Bowel incontinence Bulbous nose Truncus arteriosus Hypoplasia of the thymus Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormal eyelid morphology Meningocele Hyperthyroidism Abnormality of the skull Multiple renal cysts Patellar dislocation Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Foot polydactyly Asthma Anal atresia Nemaline bodies Functional respiratory abnormality Sternocleidomastoid amyotrophy Frog-leg posture Tibialis atrophy Rectus femoris muscle atrophy Muscle fiber hypertrophy Internally nucleated skeletal muscle fibers Type 1 muscle fiber atrophy Minicore myopathy Generalized limb muscle atrophy Type 1 and type 2 muscle fiber minicore regions Muscle fiber necrosis Increased nuchal translucency 3-Methylglutaconic aciduria Axial muscle weakness Increased connective tissue Exercise-induced myalgia Type 1 muscle fiber predominance Shoulder girdle muscle weakness Abnormal muscle morphology Hearing impairment Joint hyperflexibility Patent ductus arteriosus Carious teeth Autoimmunity Arthritis Conductive hearing impairment Umbilical hernia Hypothyroidism Autism Glaucoma Hypospadias Micrognathia Abnormality of cardiovascular system morphology Microphthalmia Immunodeficiency Intellectual disability, mild Behavioral abnormality Abnormality of the dentition Atrial septal defect Hydrocephalus Intrauterine growth retardation Normocytic hypoplastic anemia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Severe global developmental delay, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more