Epicanthus, and Rigidity

Diseases related with Epicanthus and Rigidity

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

Top matches:

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

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

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

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

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

Medium match DESMOSTEROLOSIS

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Top 5 symptoms//phenotypes associated to Epicanthus and Rigidity

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Ptosis

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Anteverted nares Optic atrophy Nystagmus Upslanted palpebral fissure Muscle stiffness Low-set ears Cataract Short stature Muscular hypotonia Prominent forehead Ataxia Hypoplasia of the corpus callosum Severe short stature Generalized hypotonia Specific learning disability Flexion contracture Depressed nasal bridge Edema Strabismus Downslanted palpebral fissures Muscle weakness Clinodactyly Short nose Failure to thrive High palate Feeding difficulties Fever Micrognathia Long philtrum Cerebellar hypoplasia Clinodactyly of the 5th finger Atrial septal defect Deep philtrum Blindness Kyphosis Posteriorly rotated ears Hypertelorism Lymphedema Thickened skin Wide nasal bridge Status epilepticus Myopia Wide nose Cleft palate

Rare Symptoms - Less than 30% cases

Micromelia Anophthalmia Hyporeflexia Skin ulcer Pointed chin Venous thrombosis Cerebral cortical atrophy Scaling skin Underdeveloped supraorbital ridges Cellulitis Amblyopia Abnormal eyelash morphology Abnormal toenail morphology Retinal dysplasia Leukonychia Chylothorax Abnormal nasolacrimal system morphology Abnormality of retinal pigmentation Hyperhidrosis Panniculitis Dry skin Visual loss Myalgia Glaucoma Protruding ear Retinopathy Leukemia Retinal dystrophy Subcutaneous nodule Thick vermilion border Retinal detachment Full cheeks Lymphoma Deeply set eye Sloping forehead Narrow mouth Erysipelas Chorioretinal dysplasia Decerebrate rigidity Growth delay Abnormality of cardiovascular system morphology Intellectual disability, severe Brachydactyly Thin upper lip vermilion Microcornea Abnormality of neuronal migration Pain Hearing impairment Intrauterine growth retardation Frontal bossing Lissencephaly Joint contracture of the hand Agenesis of corpus callosum Pachygyria Limb undergrowth Peripheral neuropathy Polydactyly Melanonychia Kyphoscoliosis Scoliosis Syndactyly Cryptorchidism Abnormality of the skeletal system Myopathy Elevated serum creatine phosphokinase Abnormality of the cerebellar vermis Polyhydramnios Pectus carinatum Muscular dystrophy Arthrogryposis multiplex congenita Decreased fetal movement Myopathic facies Omphalocele Skeletal muscle atrophy Microphthalmia Gangrene Ventriculomegaly Thin vermilion border Optic nerve hypoplasia Abnormality of the face Agitation Coxa valga Finger clinodactyly Infantile muscular hypotonia Gait ataxia Bifid uvula Cerebellar atrophy Brachycephaly Tremor Cerebral atrophy Renal insufficiency Flat face Motor delay Respiratory failure Short neck Cubitus valgus Hepatomegaly 2-4 toe syndactyly Hypoplastic nasal bridge Short metatarsal Short metacarpal Progressive cerebellar ataxia Recurrent respiratory infections Dyskinesia Anal atresia Short palm Depressed nasal ridge Aplasia/Hypoplasia involving the skeletal musculature Hemivertebrae Multicystic kidney dysplasia Hydrops fetalis Smooth philtrum Hepatic fibrosis Renal dysplasia Renal hypoplasia Abnormality of the pinna Postaxial hand polydactyly Ascites Hypopigmentation of the skin Postaxial polydactyly Pulmonary hypoplasia Abnormality of cholesterol metabolism Craniosynostosis Alveolar ridge overgrowth Nephropathy Macrogyria Increased bone mineral density Relative macrocephaly Renal hypoplasia/aplasia Abnormality of the metacarpal bones Sandal gap Aplasia/Hypoplasia of the corpus callosum Type I diabetes mellitus Microretrognathia Hypergonadotropic hypogonadism Cupped ear Hip dysplasia Hypertrichosis Rhizomelia Progressive muscle weakness Ambiguous genitalia Sensorimotor neuropathy Renal agenesis Dermal atrophy Metatarsus adductus Ambiguous genitalia, female Generalized osteosclerosis Total anomalous pulmonary venous return Abnormality of earlobe Premature graying of hair Ambiguous genitalia, male Dysphonia Gingival fibromatosis Anomalous pulmonary venous return Abnormality of the nose Decreased antibody level in blood Abnormal cortical gyration Large earlobe Osteopetrosis Submucous cleft hard palate Absent septum pellucidum Aplasia/Hypoplasia of the skin Partial agenesis of the corpus callosum Bilateral talipes equinovarus Redundant skin Enlarged kidney Macular dystrophy Recurrent aspiration pneumonia Infantile spasms Premature skin wrinkling Duodenal atresia Thick upper lip vermilion Deep palmar crease Cavum septum pellucidum Agyria Prominent occiput Avascular necrosis of the capital femoral epiphysis High forehead Cerebellar cortical atrophy Pelvic kidney Inguinal hernia Mild global developmental delay Abnormality of finger Progressive spastic paraplegia Spastic diplegia Short thumb Metatarsus valgus Spastic paraplegia Postnatal growth retardation Camptodactyly Autophagic vacuoles Muscle fiber necrosis Muscle flaccidity Abnormal levels of creatine kinase in blood Single transverse palmar crease Intestinal malrotation Delayed eruption of teeth Abnormality of the cardiovascular system Narrow forehead EEG abnormality Heterotopia Spastic gait Sacral dimple Centrally nucleated skeletal muscle fibers Abnormal heart morphology Cystic hygroma Oxycephaly Intellectual disability, moderate Pancreatic fibrosis Lymphangioma Neurological speech impairment Hip dislocation Congenital cataract Subcortical cerebral atrophy Cystic renal dysplasia Aplasia/Hypoplasia of the macula Rib fusion Polysplenia Broad neck Paraplegia Protuberant abdomen Generalized hyperpigmentation Synophrys Cerebral cortical hemiatrophy Hypoplasia of the small intestine Abnormality of upper lip Dysarthria Rimmed vacuoles Abnormality of metabolism/homeostasis Type I lissencephaly External genital hypoplasia Congenital muscular dystrophy Midline brain calcifications Bitemporal hollowing Recurrent infections Hypoplastic colon Areflexia Abnormal lactate dehydrogenase activity Hypogonadism Pes planus Dysphagia Neoplasm Extrapulmonary sequestrum Limb ataxia Myoglobinuria Polymicrogyria Developmental regression Spastic tetraplegia Generalized myoclonic seizures Generalized muscle weakness Tetraplegia Neurodegeneration Platyspondyly Abnormality of the liver Hepatosplenomegaly Paraparesis Babinski sign Gait disturbance Hypertension Truncal titubation Titubation Broad face Delayed ability to walk Clumsiness Spastic paraparesis Oral-pharyngeal dysphagia Sea-blue histiocytosis Abnormality of the optic nerve Abnormal eyelid morphology Pleural effusion Abnormality of vision Abnormality of the hair Abnormality of the eye Decreased beta-galactosidase activity Lumbar kyphosis Brisk reflexes Progressive psychomotor deterioration Vacuolated lymphocytes Loss of ability to walk Psychomotor deterioration Visceromegaly Abnormality of the spleen Developmental stagnation Loss of speech Ankle clonus Focal impaired awareness seizure Dilatation Sensory impairment Facial paralysis Axonal degeneration Scapular winging Narrow palpebral fissure Narrow face Hoarse voice Hypotelorism Postural instability Dysesthesia Paresthesia Facial asymmetry Finger syndactyly Blepharophimosis Paralysis Depressivity Respiratory distress Fatigue Chronic pain Weak voice Tented upper lip vermilion Apnea Horizontal nystagmus Clonus Broad-based gait Cyanosis Abnormal cerebellum morphology Dysmetria Pallor Muscular hypotonia of the trunk Neuritis Absent speech Hyperreflexia Visual impairment Delayed speech and language development Brachial plexus neuropathy Radial head subluxation Cutis gyrata of scalp Peripheral axonal degeneration Malar flattening Midface retrusion Talipes Astigmatism Bilateral ptosis Thick lower lip vermilion Bilateral sensorineural hearing impairment Pigmentary retinopathy Overgrowth Broad nasal tip Sleep disturbance Hypermetropia Flat occiput Corneal opacity Attention deficit hyperactivity disorder Aggressive behavior Neonatal hypotonia Macrotia Mandibular prognathia Reduced visual acuity Patent foramen ovale Cortical gyral simplification Intellectual disability, mild Talipes equinovarus Toe syndactyly Low-set, posteriorly rotated ears Telecanthus Retrognathia Patent ductus arteriosus Splenomegaly Hydrocephalus Macrocephaly Chorioretinal atrophy Chorioretinal lacunae Myopic astigmatism Exudative vitreoretinopathy Retinal thinning Prominent nasal tip Congenital microcephaly Retinal fold Vitreoretinopathy Hyperactivity Sensorineural hearing impairment Pectus excavatum Joint hypermobility Shock Lumbar hyperlordosis Hypotension Webbed neck Abnormal bleeding Muscle cramps Metabolic acidosis Tachycardia Ventricular arrhythmia Lactic acidosis Limb muscle weakness Stroke Hyperlordosis Proximal muscle weakness Acidosis Pes cavus Arrhythmia Tachypnea Myotonia Mixed respiratory and metabolic acidosis Hyperphosphatemia Sinus tachycardia Long upper lip Congenital ptosis Diaphragmatic eventration Respiratory arrest Severe lactic acidosis Breech presentation Low hanging columella Ventricular fibrillation Thoracic kyphosis Malignant hyperthermia Scaphocephaly Acute kidney injury Rhabdomyolysis Abnormality of the sternum Hyperkalemia Abnormality of the coagulation cascade Abnormal aldolase level


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