Muscle weakness, and Everted lower lip vermilion

Diseases related with Muscle weakness and Everted lower lip vermilion

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

Top matches:

Medium match AGEL AMYLOIDOSIS

AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHANARIN-DORFMAN SYNDROME; CDS

Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

Other less relevant matches:

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MOEBIUS SYNDROME

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

SCHWARTZ-JAMPEL SYNDROME Is also known as myotonic chondrodystrophy|schwartz-jampel-aberfeld syndrome|burton skeletal dysplasia|sjs|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|dysostosis enchondralis metaepiphysaria, catel-hempel type|burton syndrome|aberfeld syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS 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

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

Top 5 symptoms//phenotypes associated to Muscle weakness and Everted lower lip vermilion

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Everted lower lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Microcephaly Micrognathia Ptosis Cataract Hypertelorism Generalized hypotonia Kyphosis Hydrocephalus High palate Muscular hypotonia Myopathy Pectus excavatum Large hands Skeletal muscle atrophy Umbilical hernia Brachydactyly Thin upper lip vermilion Inguinal hernia Neurological speech impairment Hypoplasia of the maxilla Microdontia Seizures Visual impairment Hypoplasia of the corpus callosum Gait disturbance Long philtrum Hypertonia Mandibular prognathia Feeding difficulties in infancy Nystagmus Cardiomyopathy Pectus carinatum Delayed skeletal maturation Downslanted palpebral fissures Glaucoma

Rare Symptoms - Less than 30% cases

Talipes equinovarus Decreased body weight Frontal bossing Depressed nasal bridge Myopia Cognitive impairment Abnormality of dental morphology Pulmonary arterial hypertension Optic atrophy Megalocornea Prominent supraorbital ridges Myotonia Dental malocclusion Reduced number of teeth Wide nose Low anterior hairline Generalized hirsutism Hypodontia Microcornea Tapered finger Coxa valga Telecanthus Conductive hearing impairment Growth delay Anteverted nares Platyspondyly Intellectual disability, mild Abnormality of the voice Arthrogryposis multiplex congenita Cerebellar vermis hypoplasia Epicanthus Cleft palate Wide anterior fontanel Oligodontia Coarse hair Redundant skin Open mouth Mask-like facies Aplasia/Hypoplasia of the cerebellum Aplasia/Hypoplasia of the corpus callosum Ventriculomegaly EMG abnormality Pachygyria Severe global developmental delay Short distal phalanx of finger Cerebellar hypoplasia Respiratory insufficiency Narrow mouth Pes planus Elevated serum creatine phosphokinase Midface retrusion Microphthalmia Hyperlordosis Anteriorly placed anus Intellectual disability, severe Abnormal facial shape Short neck Motor delay Peripheral neuropathy Feeding difficulties Low posterior hairline Cutis laxa Low-set ears Sensorineural hearing impairment Muscular dystrophy Psychosis Abnormality of the skeletal system Corneal opacity Abnormality of the dentition Hernia Hypertension Abnormal tricuspid valve morphology Broad forehead Hypermetropia Synophrys Sparse hair Cataplexy Hyperconvex fingernails Craniosynostosis Postnatal growth retardation Abnormality of the pinna Stooped posture Abnormality of the eye Pseudoepiphyses of the metacarpals Abnormality of the foot Broad finger Smooth philtrum Abnormal diaphysis morphology Advanced eruption of teeth Hyperextensibility of the finger joints Heterotopia Hypertrichosis Sparse scalp hair Short palpebral fissure Rectal prolapse Small nail Premature loss of primary teeth Thick nasal alae Astigmatism Oligohydramnios Convex nasal ridge Narrow iliac wings Intestinal malrotation Sepsis Triangular face High, narrow palate Gastroesophageal reflux Pulmonary hypoplasia Retrognathia Delayed eruption of teeth Retinoschisis Pursed lips Bipolar affective disorder Abnormally straight spine Long eyelashes in irregular rows Elevated aldolase level Testicular torsion Odontogenic neoplasm Shoulder flexion contracture Prenatal movement abnormality Obesity Metatarsus valgus Protrusio acetabuli Abnormally ossified vertebrae Flexion contracture of toe Weak voice Wrist flexion contracture Distichiasis Abnormality of the pharynx Depressivity Failure to thrive Proptosis Short nose Micropenis Brachycephaly Posteriorly rotated ears Lumbar kyphosis Abnormal heart morphology Abnormal aortic valve morphology Patent ductus arteriosus Syndactyly Uterine prolapse Cryptorchidism Bifid sternum Atrial septal defect Respiratory distress Thick nasal septum Abnormality of the nasal alae Drumstick terminal phalanges Intrauterine growth retardation Abnormality of cardiovascular system morphology Myelopathy Abnormality of the metacarpal bones Recurrent urinary tract infections Emphysema Macrotia Cerebral cortical atrophy Congestive heart failure Self-injurious behavior Cutis marmorata Macrocephaly Abnormality of neuronal migration Loss of consciousness Coarse facial features Broad hallux Trismus Aplasia/Hypoplasia of the nasal bone Progressive spasticity Aplastic/hypoplastic lacrimal glands Abnormality of digit Congenital craniofacial dysostosis Hypoplasia of the abdominal wall musculature Kyphoscoliosis Mental deterioration Absent distal phalanges Thick eyebrow Short metacarpal Single transverse palmar crease Highly arched eyebrow Thick lower lip vermilion Abnormal form of the vertebral bodies Thick vermilion border Mitral regurgitation Abnormality of retinal pigmentation Abnormality of the hair Protruding ear Joint hypermobility Narrow palate Widely spaced teeth Sleep apnea Joint hyperflexibility Dilated cardiomyopathy Schizophrenia Wide mouth Wide nasal ridge Upper eyelid coloboma Left ventricular hypertrophy Tricuspid regurgitation Acrocyanosis Prematurely aged appearance Hypoplastic fingernail Natal tooth Reduced subcutaneous adipose tissue Anonychia Bilateral cryptorchidism Restrictive cardiomyopathy Soft skin Aortic aneurysm Abnormal mitral valve morphology Craniofacial hyperostosis Abnormality of vision Tetraplegia Scrotal hypoplasia Bicuspid aortic valve Delayed closure of the anterior fontanelle Hypoplastic nipples Protruding tongue Recurrent aspiration pneumonia Prominent superficial veins Broad palm Thickened calvaria Absence of subcutaneous fat Dermal translucency Hypoplasia of the musculature Pneumothorax Absent nipple Deep palmar crease Premature skin wrinkling Underdeveloped supraorbital ridges Abnormal eyelid morphology Atonic seizures Spinal canal stenosis Sclerocornea Coronal craniosynostosis Abnormality of the skull Turricephaly Severe sensorineural hearing impairment Aplasia/Hypoplasia affecting the eye Anxiety Blepharospasm Hypospadias Slurred speech Hypoplasia of dental enamel Choanal atresia Growth hormone deficiency Confusion Anal atresia Short philtrum Visual loss Blindness Aniridia Wide nasal bridge Limitation of neck motion Cervical C2/C3 vertebral fusion Acetabular dysplasia Fused cervical vertebrae Nemaline bodies Thoracolumbar scoliosis Centrally nucleated skeletal muscle fibers Mild short stature Anal stenosis Posterior embryotoxon Frequent falls Agenesis of corpus callosum Abnormality of movement Congenital cataract Abnormality of the cerebral white matter Coloboma Pallor Neonatal hypotonia EEG abnormality Myoclonus Dilatation Hypoplasia of the iris Malar flattening Spasticity Abnormally prominent line of Schwalbe Axenfeld anomaly Bilateral choanal atresia Polycoria Rieger anomaly Abnormality of the abdominal wall Anterior synechiae of the anterior chamber Bilateral ptosis Underdeveloped nasal alae Polymicrogyria Bulbar palsy Cardiac amyloidosis Lattice corneal dystrophy Mild proteinuria Facial paralysis Bulbar signs Abnormality of abdomen morphology Amyloidosis Orthostatic hypotension Corneal dystrophy Generalized amyloid deposition Abnormal autonomic nervous system physiology Palpitations Nephrotic syndrome Hypotension Polyneuropathy Poor speech Paralysis Proteinuria Renal insufficiency Bilateral facial palsy Ataxia Webbed neck Congenital ichthyosiform erythroderma Bulbous nose Falls Clinodactyly Flexion contracture Generalized ichthyosis Decreased plasma carnitine Congenital nonbullous ichthyosiform erythroderma Subcapsular cataract Abnormality of blood and blood-forming tissues Erythroderma Hepatomegaly Ectropion Scaling skin Aortic regurgitation Hepatic steatosis Ichthyosis Microtia Hepatosplenomegaly Alopecia Areflexia Retinal degeneration Generalized muscle weakness Abnormal eyebrow morphology Blepharophimosis Decreased testicular size Hip dysplasia Full cheeks Flat face Micromelia Genu valgum Prominent nasal bridge Attention deficit hyperactivity disorder Joint stiffness Abnormality of the metaphysis Irritability Apnea Low-set, posteriorly rotated ears Myalgia Skeletal dysplasia Polyhydramnios Osteoporosis Hyporeflexia Arrhythmia Abnormality of the ribs Bowing of the long bones Aplasia/Hypoplasia of the tongue Overfolded helix Malignant hyperthermia Sprengel anomaly Abnormality of the ureter Hip contracture Abnormality of immune system physiology Increased number of teeth Spinal rigidity High pitched voice Skeletal muscle hypertrophy Elbow dislocation Nephrolithiasis Ectopia lentis Cachexia Abnormality of the urinary system Dysphonia Laryngomalacia Coxa vara Wormian bones Increased bone mineral density Abnormality of epiphysis morphology Aplasia of the pectoralis major muscle Aplasia/Hypoplasia involving the metacarpal bones High myopia Hemiplegia/hemiparesis Buphthalmos Undetectable electroretinogram Hypoplasia of the pons Retinal dysplasia Meningocele Retinal atrophy Congenital glaucoma Cortical dysplasia Hypoplasia of the brainstem Cerebellar dysplasia Congenital muscular dystrophy Optic nerve hypoplasia Infantile muscular hypotonia Lissencephaly Holoprosencephaly Severe muscular hypotonia Opacification of the corneal stroma Encephalocele Intellectual disability, profound Decreased light- and dark-adapted electroretinogram amplitude Type II lissencephaly Abnormality of the sense of smell Ophthalmoplegia Absent hand Breast aplasia Abnormality of the ulna Blepharitis Aplasia/Hypoplasia of the radius Aplasia/Hypoplasia of the thumb Multiple cafe-au-lait spots Cranial nerve paralysis Hypogonadotrophic hypogonadism Finger syndactyly Cerebellar cyst Facial palsy Autism Clinodactyly of the 5th finger Dysphagia Enlarged flash visual evoked potentials Short nasal bridge Hypoplasia of the retina Uncontrolled eye movements Hypoglycosylation of alpha-dystroglycan Anodontia


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