Myopathy, and Bifid uvula

Diseases related with Myopathy and Bifid uvula

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

Top matches:

Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Flexion contracture
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 5; CNM5

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Other less relevant matches:

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

Top 5 symptoms//phenotypes associated to Myopathy and Bifid uvula

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Flexion contracture Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Posteriorly rotated ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Bifid uvula. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Hypoplasia of the corpus callosum Hypertelorism Low-set ears Cryptorchidism Seizures Talipes equinovarus Abnormal facial shape Muscle weakness Cleft palate Ventriculomegaly Global developmental delay Motor delay High palate Cardiomyopathy Elevated serum creatine phosphokinase Hydrocephalus Neonatal hypotonia Microcephaly Growth delay Cleft upper lip Failure to thrive Retrognathia Narrow mouth Muscular hypotonia Frontal bossing Areflexia Muscular dystrophy Long philtrum Facial palsy Submucous cleft hard palate Epicanthus Skeletal muscle atrophy Hydronephrosis Ventricular septal defect Ptosis Microphthalmia Micropenis Agenesis of corpus callosum Short stature Absent septum pellucidum Prominent forehead Anteverted nares Abnormality of cardiovascular system morphology Depressed nasal bridge Intrauterine growth retardation Hearing impairment Severe short stature Hypoplasia of penis Specific learning disability Congenital muscular dystrophy Difficulty climbing stairs Abnormality of the skeletal system Feeding difficulties Kyphosis Cleft lip Atrial septal defect Myopia Cataract Patent ductus arteriosus Pyloric stenosis Delayed speech and language development Cognitive impairment Intellectual disability, severe Dilated cardiomyopathy Congenital contracture Ophthalmoplegia Severe muscular hypotonia Camptodactyly Centrally nucleated skeletal muscle fibers Microtia

Rare Symptoms - Less than 30% cases

Large fontanelles Bilateral cleft lip Coarctation of aorta Dandy-Walker malformation Coloboma Scrotal hypoplasia Webbed neck Abnormality of the cerebral white matter Cleft soft palate Anal atresia Oral cleft Polymicrogyria Spina bifida occulta Microcornea Hypoplasia of the brainstem Renal dysplasia Heterotopia Pachygyria Abnormality of the skin Metatarsus adductus Intestinal malrotation Interphalangeal joint contracture of finger Brachycephaly Clinodactyly of the 5th finger Arthrogryposis multiplex congenita Arachnodactyly High, narrow palate Clinodactyly Syndactyly Blepharophimosis Downslanted palpebral fissures Wide anterior fontanel Wide nasal bridge Joint contracture of the hand Multicystic kidney dysplasia Left ventricular noncompaction Radioulnar synostosis Camptodactyly of finger Joint stiffness Abnormal levels of creatine kinase in blood Hypospadias Abnormality of the cerebellar vermis Colpocephaly Aplasia/Hypoplasia involving the skeletal musculature Conductive hearing impairment Strabismus Short neck Pectus excavatum Hypothyroidism Inguinal hernia Gastroesophageal reflux Polyhydramnios Kyphoscoliosis Aggressive behavior Abnormality of the kidney Abnormality of the pinna Increased susceptibility to fractures Optic atrophy Cerebellar hypoplasia Abnormal heart valve morphology Hyperlordosis Protruding ear Long face Generalized muscle weakness Deeply set eye Delayed myelination Short foot Delayed closure of the anterior fontanelle Thin vermilion border Spinal canal stenosis Difficulty running Abnormal cardiac septum morphology Abnormality of the dentition Small for gestational age Corneal opacity Postnatal growth retardation Delayed skeletal maturation Hypogonadism High forehead Feeding difficulties in infancy Waddling gait Gait disturbance Axial muscle weakness Respiratory insufficiency Dilatation Macrocephaly Delayed cranial suture closure Hip contracture Dysphasia Low-set, posteriorly rotated ears Sensorineural hearing impairment Pes cavus Congestive heart failure Intellectual disability, mild Dysphagia Hypermetropia Visual impairment Neurological speech impairment Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Self-mutilation Arnold-Chiari type I malformation Abnormality of the liver Abnormality of the eye Overweight Foot polydactyly Abnormal lung lobation Behavioral abnormality EEG abnormality Mandibular prognathia Autism Brachydactyly Upslanted palpebral fissure Constipation Obesity Absent speech Midface retrusion Cerebral atrophy Epileptic spasms Aortic root aneurysm Malar flattening Cerebral cortical atrophy Telangiectasia of the skin Congenital hypothyroidism Ventricular hypertrophy Tetralogy of Fallot Aplasia/Hypoplasia of the corpus callosum Bicuspid aortic valve Leukoencephalopathy Optic disc pallor Abnormality of the ribs Hypercholesterolemia Cranial nerve paralysis Abnormal intestine morphology Hypsarrhythmia Tetraparesis Abnormal blistering of the skin Depressed nasal ridge Spastic tetraparesis Narrow palpebral fissure Hypertrichosis Mitral regurgitation Decreased body weight Telangiectasia Short 5th finger Generalized hirsutism Stereotypy Short phalanx of finger Sacral dimple Epileptic encephalopathy Synophrys Hypermelanotic macule Anteriorly placed anus Neuroblastoma Slender long bone Pointed chin Abnormality of the immune system Infantile spasms High hypermetropia Macule Poor speech Polyphagia Hepatic steatosis Hemiplegia/hemiparesis Infantile muscular hypotonia Congenital sensorineural hearing impairment Clitoral hypertrophy Renal cyst Self-injurious behavior Hand polydactyly Failure to thrive in infancy Patent foramen ovale Abnormality of vision Delayed gross motor development Brain atrophy Hip dysplasia Ocular albinism Cranial nerve VI palsy Missing ribs Scarring Poor suck Hyperextensible skin Easy fatigability Poor head control Cutis laxa Blue sclerae Hypotelorism Sloping forehead Bruising susceptibility Joint hypermobility Abnormality of the foot Pes planus Atrophic scars Umbilical hernia Osteopenia Hyperkeratosis Hernia Mitochondrial depletion Minicore myopathy Increased endomysial connective tissue Ankle contracture Myopathic facies Calf muscle hypertrophy Knee flexion contracture Disproportionate tall stature Soft skin Arrhythmia Cutaneous finger syndactyly Intercrural pterygium Absent scrotum Fibrous syngnathia Lower lip pit Abnormality of the scrotum Hypoplasia of the vagina Popliteal pterygium Ankyloblepharon Labial hypoplasia Hypoplastic labia majora Bilateral cleft lip and palate Hypoplasia of the uterus Follicular hyperkeratosis Bifid scrotum Pterygium Abnormality of the genital system Overgrowth Toe syndactyly Dementia Aortic rupture Abnormal eye morphology Arterial rupture High-frequency sensorineural hearing impairment Keloids Bladder diverticulum Hip dislocation Agenesis of the anterior commissure Abnormality of the gastrointestinal tract Abnormal renal physiology Gastric ulcer Abnormality of the mandible Abnormality of female external genitalia Lambdoidal craniosynostosis Impaired social interactions Abnormal corpus callosum morphology Periventricular leukomalacia Cavum septum pellucidum Abnormality of chromosome stability Biliary tract abnormality Abnormal left ventricle morphology Thickened helices Abnormality of the optic disc Rib fusion Abnormality of the spleen Redundant neck skin Volvulus Delayed CNS myelination Dilation of lateral ventricles Abnormality of the testis 11 pairs of ribs Abnormality of the neck Lower limb asymmetry Optic nerve coloboma Abnormality of the anus Expressive language delay Solitary renal cyst Hypoplastic female external genitalia Abnormality of the renal pelvis Abnormality of the cerebral ventricles Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Abnormality of the hairline Abnormality of brain morphology Oppositional defiant disorder Asymmetry of the ears Noncompaction cardiomyopathy Paranasal sinus hypoplasia Abnormal social behavior Talipes valgus Abnormal external genitalia Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Annular pancreas Aortic arch aneurysm Nystagmus Flat face Straight clavicles Retinal atrophy Cerebellar dysplasia Muscle fiber splitting Peters anomaly Aqueductal stenosis Buphthalmos Abnormality of the optic nerve Abnormal cortical gyration Retinal dysplasia Megalocornea Occipital encephalocele Cerebellar cyst Congenital glaucoma Abnormality of neuronal migration Anophthalmia Atresia of the external auditory canal Optic nerve hypoplasia Lissencephaly Encephalocele Cerebellar vermis hypoplasia Intellectual disability, profound Retinal detachment Type II lissencephaly Agyria Iris coloboma Abnormal aldolase level Short palpebral fissure Renal hypoplasia Peripheral demyelination Renal agenesis Pulmonary hypoplasia Talipes Pectus carinatum Attention deficit hyperactivity disorder Respiratory tract infection Hyperactivity Thick cerebral cortex Excessive daytime sleepiness Hypoplastic male external genitalia Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Macrogyria Severe hydrocephalus Metatarsus valgus Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Posterior fossa cyst Remnants of the hyaloid vascular system Retinal dystrophy Congenital cataract Abnormality of the face Dysphonia Recurrent respiratory infections EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Type 1 muscle fiber predominance Facial diplegia Exertional dyspnea Long fingers Generalized amyotrophy Ophthalmoparesis Gowers sign Bilateral ptosis EMG: myopathic abnormalities Muscular hypotonia of the trunk External ophthalmoplegia Respiratory insufficiency due to muscle weakness Scapular winging Progressive muscle weakness Left ventricular hypertrophy Distal muscle weakness Proximal muscle weakness Difficulty walking Dyspnea Dysarthria Thin upper lip vermilion Astigmatism Retinopathy Decreased circulating cortisol level Proptosis Glaucoma Hyporeflexia Blindness Patchy osteosclerosis Congenital hypoparathyroidism Hypocalcemic seizures Cellular immunodeficiency Aplasia/Hypoplasia affecting the eye Tetany Hyperphosphatemia Short palm Hypoparathyroidism Severe intrauterine growth retardation External ear malformation Intestinal obstruction Abnormality of dental enamel Recurrent bacterial infections Hypocalcemia Convex nasal ridge Growth hormone deficiency Small hand Abnormal form of the vertebral bodies Situs inversus totalis Metaphyseal striations Visual field defect Pierre-Robin sequence Ankylosis Tracheomalacia Fibular hypoplasia Anal stenosis Natal tooth Thickened calvaria Partial agenesis of the corpus callosum Mixed hearing impairment Hypoplastic left heart Misalignment of teeth Aphasia Hyperostosis Flat occiput Nephroblastoma Overfolded helix Metaphyseal widening Nasal speech Mutism Cutaneous syndactyly Holoprosencephaly Osteopetrosis Echolalia Microretrognathia Rough bone trabeculation Osteopathia striata Facial hyperostosis High iliac wings Unilateral facial palsy Laryngeal web Craniofacial osteosclerosis Large iliac wings Laryngotracheomalacia Alobar holoprosencephaly Broad clavicles Flexion contracture of toe Ectopic anus Asymmetry of the thorax Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis Fibular aplasia White forelock Facial paralysis Large forehead Broad ribs Thoracic dysplasia Osteolysis Narrow palate Renal hypoplasia/aplasia Epispadias Headache Pain Neoplasm Abnormal anatomic location of the heart Fixed facial expression Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the penis Congenital ptosis Limb joint contracture Primitive reflex Skeletal dysplasia Abnormality of the upper urinary tract Distal arthrogryposis Restlessness Abnormality of the sternum Decreased muscle mass Hydroureter Dextrocardia Mask-like facies Myotonia Abnormality of the urinary system Abnormal heart morphology Apnea Spontaneous abortion Lumbar hyperlordosis Spina bifida Increased bone mineral density Aortic valve stenosis Abnormal vertebral morphology Dental crowding Aganglionic megacolon Omphalocele Abnormality of the metaphysis Open mouth Thick lower lip vermilion Oligohydramnios Paralysis Narrow forehead Cerebral calcification Wide intermamillary distance Dental malocclusion Broad nasal tip Delayed eruption of teeth Thick vermilion border Dolichocephaly Broad forehead Craniosynostosis Pyramidal skinfold extending from the base to the top of the nails


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