Muscle weakness, and Wide mouth

Diseases related with Muscle weakness and Wide mouth

In the following list you will find some of the most common rare diseases related to Muscle weakness and Wide mouth that can help you solving undiagnosed cases.


Top matches:

Low match OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE


Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

Low match LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM


Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Is also known as lenz-majewski syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM

Low match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

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Other less relevant matches:

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Low match AICA-RIBOSIDURIA


AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AICA-RIBOSIDURIA

Low match X-LINKED RETICULATE PIGMENTARY DISORDER


X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

Top 5 symptoms//phenotypes associated to Muscle weakness and Wide mouth

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Muscle weakness and Wide mouth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape High palate Microcephaly Strabismus Feeding difficulties Growth delay Macrotia Muscular hypotonia Frontal bossing Intellectual disability, mild Aggressive behavior Mandibular prognathia Short stature Brachycephaly Optic atrophy Thick vermilion border Epicanthus

Rare Symptoms - Less than 30% cases


Anteriorly placed anus Anteverted nares Advanced eruption of teeth Thin eyebrow Prominent nasal bridge Hypoplastic fingernail Redundant skin Scoliosis Cutis marmorata Sensorineural hearing impairment Delayed eruption of teeth Brachydactyly Macrocephaly Autistic behavior Clitoral hypertrophy Hydrocephalus Kyphoscoliosis Kyphosis Joint hyperflexibility Autism Inguinal hernia Cerebral cortical atrophy Delayed skeletal maturation Obesity Thickened calvaria Intellectual disability, moderate Prominent forehead Hyperextensibility of the finger joints Cutis laxa Hyperconvex fingernails Hearing impairment High, narrow palate Telecanthus Coarse facial features Cognitive impairment Depressed nasal bridge Specific learning disability Upslanted palpebral fissure Short palpebral fissure Abnormality of the dentition Micrognathia Neurological speech impairment Intellectual disability, severe Failure to thrive Pes planus Hyperlordosis Acrocyanosis Soft skin Feeding difficulties in infancy Severe sensorineural hearing impairment Mental deterioration Spinal canal stenosis Atonic seizures Broad palm Congestive heart failure Broad hallux Abnormality of digit Abnormality of dental morphology Progressive spasticity Pectus excavatum Aplasia/Hypoplasia of the cerebellum Large hands Protruding ear Emphysema Hypertonia Loss of consciousness Abnormality of neuronal migration Tetraplegia Self-injurious behavior Mitral regurgitation Abnormality of the hair Hypodontia Wide anterior fontanel Abnormality of retinal pigmentation Restrictive cardiomyopathy Decreased body weight Abnormal form of the vertebral bodies Single transverse palmar crease Open mouth Thick lower lip vermilion Cerebellar vermis hypoplasia Psychosis Dental malocclusion Short metacarpal Coxa valga Narrow palate Pectus carinatum Coarse hair Hypoplasia of the maxilla Dilated cardiomyopathy Joint hypermobility Thick eyebrow Prominent supraorbital ridges Short distal phalanx of finger Schizophrenia Tapered finger Wide nose Everted lower lip vermilion Highly arched eyebrow Sleep apnea Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Severe global developmental delay Abnormality of the nasal alae Abnormal mitral valve morphology Sandal gap Abnormality of the skin Thin upper lip vermilion Abnormality of metabolism/homeostasis Blindness Atrial septal defect Low-set ears Narrow palpebral fissure Congenital blindness Pointed chin Downturned corners of mouth Hyperactivity Clinodactyly Absent speech Long philtrum Short nose Intellectual disability, profound Fused labia minora Incoordination Lissencephaly Stuttering Hydranencephaly Cogwheel rigidity Focal dystonia Limb dystonia Infantile spasms Lower limb spasticity Spasticity Triangular face Rigidity EEG abnormality Dystonia Tremor Dysarthria Flexion contracture Delayed ability to walk Plagiocephaly Craniofacial hyperostosis Broad finger Lumbar kyphosis Retinoschisis Pseudoepiphyses of the metacarpals Stooped posture Cataplexy Abnormal tricuspid valve morphology Narrow iliac wings Bifid sternum Thick nasal alae Abnormal diaphysis morphology Premature loss of primary teeth Rectal prolapse Myelopathy Abnormal aortic valve morphology Delayed closure of the anterior fontanelle Uterine prolapse Thick nasal septum Dental crowding Deeply set eye Poor speech Facial asymmetry Wide nasal bridge Motor delay Epileptic encephalopathy Febrile seizures Gastroesophageal reflux Drumstick terminal phalanges Encephalopathy Cerebral atrophy Mood swings Esophagitis Behavioral abnormality Ptosis Neonatal hypotonia Cardiomyopathy Cranial hyperostosis Hypoplasia of the corpus callosum Diabetic ketoacidosis Cleft palate Onychauxis Abnormality of upper lip Postprandial hyperglycemia Muscle flaccidity Chorioretinal dystrophy Abnormal lip morphology Intrauterine growth retardation Choroideremia Long penis Fasting hypoglycemia Thick nail Abnormality of the optic nerve Long foot Cryptorchidism Short neck Insulin-resistant diabetes mellitus Facial palsy Macroglossia Short palm Carious teeth Finger syndactyly Broad forehead Sparse hair Joint laxity Syndactyly Proptosis Hypogonadism Severe short stature Agenesis of corpus callosum Hypospadias Hernia Ketoacidosis Protuberant abdomen Limitation of joint mobility Hypoglycemia Dry skin Arachnodactyly Smooth philtrum Small for gestational age Short philtrum Blepharophimosis Retrognathia Thin vermilion border Dyspnea Respiratory failure Respiratory distress Myopia Neoplasm Nystagmus Long face Hirsutism Ovarian neoplasm Acanthosis nigricans Flat occiput Absent eyebrow Hyperglycemia Lipodystrophy Precocious puberty Hyperinsulinemia Narrow face Microcornea Preauricular skin tag Insulin resistance Hypertrichosis Epidermal acanthosis Microdontia Sepsis Abdominal distention Bifid uvula Hip dysplasia Ventriculomegaly Abnormal nasolacrimal system morphology Abnormality of the penis Elbow ankylosis Aplasia of the middle phalanx of the hand Aplasia/Hypoplasia of the middle phalanges of the hand Sclerosis of skull base Delayed eruption of permanent teeth Lacrimal duct stenosis Calvarial hyperostosis Humeroradial synostosis Epispadias Aplastic clavicle Diaphyseal thickening Chordee Nasolacrimal duct obstruction Absent axillary hair Broad clavicles Generalized osteosclerosis Abnormality of the skeletal system Gait disturbance Downslanted palpebral fissures Skeletal muscle atrophy Peripheral neuropathy Cataract Stiff finger Proximal symphalangism Progressive sclerosis of skull base Lumbar kyphoscoliosis Exodeviation Facial hyperostosis Prominent scalp veins Proximal symphalangism of hands Femoral hernia Symphalangism affecting the phalanges of the hand Choanal atresia Knee flexion contracture Dermal atrophy Relative macrocephaly Increased intracranial pressure Abnormality of the metacarpal bones Cutaneous syndactyly Abnormality of dental enamel Elbow flexion contracture Short middle phalanx of finger Increased bone mineral density Short toe Hypoplasia of dental enamel Large fontanelles Thin skin Abnormality of the metaphysis Hyperostosis Flared metaphysis Abnormal cortical bone morphology Osteopetrosis Prominent superficial veins Broad ribs Premature skin wrinkling Progeroid facial appearance Choanal stenosis Abnormality of finger Microglossia Delayed cranial suture closure Submucous cleft hard palate Prematurely aged appearance Absent septum pellucidum Aplasia/Hypoplasia of the skin Reduced subcutaneous adipose tissue Limited elbow extension External genital hypoplasia Grasp reflex



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