Muscle weakness, and Thick vermilion border

Diseases related with Muscle weakness and Thick vermilion border

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

Top matches:

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Other less relevant matches:

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

SIALIDOSIS TYPE 1 Is also known as cherry-red spot-myoclonus syndrome|normomorphic sialidosis|lipomucopolysaccharidosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about SIALIDOSIS TYPE 1

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

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 VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Top 5 symptoms//phenotypes associated to Muscle weakness and Thick vermilion border

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability, mild Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Macrotia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscle weakness and Thick vermilion border. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Short stature Microcephaly Thick lower lip vermilion Hypertelorism Nystagmus Ventriculomegaly High palate EEG abnormality Muscular hypotonia Coarse facial features Sensorineural hearing impairment Long philtrum Scoliosis Progressive microcephaly Intellectual disability, moderate Growth delay Abnormal facial shape Feeding difficulties Hyperreflexia Macrocephaly Skeletal muscle atrophy Frontal bossing Congestive heart failure Hypertonia Splenomegaly Motor delay Hearing impairment High, narrow palate Macroglossia Agenesis of corpus callosum Epicanthus Cardiomegaly Micrognathia Failure to thrive Recurrent infections Wide nasal bridge Depressed nasal bridge Cerebral atrophy

Rare Symptoms - Less than 30% cases

Hypoplasia of the pons Hypogonadism Myoclonus Strabismus Fever Cerebellar hypoplasia Delayed myelination Muscular hypotonia of the trunk Ptosis Absent speech Optic atrophy Arrhythmia Cataract Hepatomegaly Spasticity Hyperhidrosis Increased antibody level in blood Prominent nose Sleep disturbance Delayed speech and language development Prominent supraorbital ridges Lipodystrophy Hyperostosis Elevated erythrocyte sedimentation rate Lymphadenopathy Microcytic anemia Clubbing of fingers Erythema nodosum Abnormality of the dentition Cryptorchidism Joint stiffness Arthralgia Skin rash Immunodeficiency Increased urinary O-linked sialopeptides Lymphedema Feeding difficulties in infancy Deeply set eye Hydrocephalus Hypoplasia of the corpus callosum Pain Subcutaneous nodule Gait disturbance Hypospadias Kyphoscoliosis Elbow flexion contracture Increased intracranial pressure Cerebral cortical atrophy Aminoaciduria Abnormality of the periventricular white matter Prominent forehead Severe global developmental delay Cleft palate Gliosis Full cheeks Kyphosis Cognitive impairment Hernia Delayed skeletal maturation Peripheral neuropathy Poor head control Hyperkeratosis Lymphopenia Abnormality of the cerebral white matter Irritability Dental crowding Elbow ankylosis Aplasia of the middle phalanx of the hand Cranial hyperostosis Osteopetrosis Microglossia Submucous cleft hard palate Hyperconvex fingernails Aplasia/Hypoplasia of the middle phalanges of the hand Abnormality of the penis Symphalangism affecting the phalanges of the hand Sclerosis of skull base Chordee Abnormal cortical bone morphology Prominent superficial veins Generalized osteosclerosis Broad ribs Hypoplastic fingernail Premature skin wrinkling Hyperextensibility of the finger joints Nasolacrimal duct obstruction Diaphyseal thickening Abnormality of finger Aplastic clavicle Epispadias Humeroradial synostosis Lacrimal duct stenosis Abnormal nasolacrimal system morphology Progeroid facial appearance Delayed eruption of permanent teeth Choanal stenosis Femoral hernia Dermal atrophy Anteriorly placed anus Mandibular prognathia Bifid uvula Delayed eruption of teeth Short palm Joint hyperflexibility Carious teeth Finger syndactyly Broad forehead Sparse hair Wide mouth Facial palsy Joint laxity Proptosis Hip dysplasia Severe short stature Inguinal hernia Syndactyly Short neck Intrauterine growth retardation Brachydactyly Recurrent pyelonephritis Hair-pulling Fulminant hepatic failure Tongue thrusting Hyperorality Limitation of joint mobility Specific learning disability Prematurely aged appearance Calvarial hyperostosis Thickened calvaria Absent septum pellucidum Aplasia/Hypoplasia of the skin Reduced subcutaneous adipose tissue Limited elbow extension External genital hypoplasia Delayed cranial suture closure Flared metaphysis Short middle phalanx of finger Cutis marmorata Redundant skin Relative macrocephaly Choanal atresia Abnormality of the metacarpal bones Cutaneous syndactyly Cutis laxa Abnormality of dental enamel Knee flexion contracture Increased bone mineral density Short toe Hypoplasia of dental enamel Large fontanelles Thin skin Abnormality of the metaphysis Absent axillary hair Triangular face Broad clavicles Severe failure to thrive Hypopigmentation of the fundus Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Fair hair Renal tubular dysfunction Ocular albinism Depressed nasal tip Aspiration pneumonia Abnormal posturing IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Renal tubular acidosis Centrally nucleated skeletal muscle fibers Bronchitis Macular atrophy Neurodevelopmental delay Combined immunodeficiency Recurrent fungal infections Granulocytopenia Congenital sensorineural hearing impairment Decreased T cell activation Broad nasal tip Small for gestational age Abnormality of the skeletal system Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Cutaneous anergy Pontocerebellar atrophy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Muscle flaccidity Abnormality of the cerebellar vermis Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Albinism Poor suck Proximal symphalangism Cerebellar atrophy Respiratory tract infection Postnatal growth retardation Cleft lip Hypertrophic cardiomyopathy Acidosis Respiratory failure Rod-cone dystrophy Recurrent respiratory infections Pneumonia Dilatation Myopathy Congenital cataract Cardiomyopathy Respiratory distress Anteverted nares Low-set ears Stiff finger Progressive sclerosis of skull base Lumbar kyphoscoliosis Exodeviation Facial hyperostosis Prominent scalp veins Proximal symphalangism of hands Dilated cardiomyopathy Cleft upper lip Adducted thumb Open mouth Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Leukopenia Recurrent bacterial infections Increased body weight Aspiration Decreased liver function Abnormality of retinal pigmentation Decreased body weight Left ventricular hypertrophy Heterotopia Progressive neurologic deterioration Polymicrogyria Cerebellar vermis hypoplasia Ventricular hypertrophy Hypotelorism Narrow forehead Decreased antibody level in blood Sepsis Toenail dysplasia Hypopigmentation of the skin Neutropenia Wide nose Pulmonary hypoplasia Cerebellar cortical atrophy Aggressive behavior Episodic vomiting Upslanted palpebral fissure Hypergonadotropic hypogonadism Fasciculations Ambiguous genitalia Esotropia Nevus Chorea Spastic paraplegia Apnea Micropenis Dystonia Clitoral hypertrophy Abnormality of the Leydig cells Clubbing of toes Episodic fever Lipoatrophy Right bundle branch block Abnormality of the face Arachnodactyly Arthrogryposis multiplex congenita Abnormal pyramidal sign Respiratory insufficiency Oculomotor apraxia Hypoplasia of the brainstem Absent urinary urothione Corneal opacity Cherry red spot of the macula Vascular skin abnormality Dysostosis multiplex Short thorax Decreased nerve conduction velocity Slurred speech Abnormal form of the vertebral bodies Progressive visual loss Abnormality of movement Neurological speech impairment Pectus carinatum Flat occiput Retinopathy Skeletal dysplasia Tremor Visual impairment Ataxia Olivopontocerebellar hypoplasia Microphallus Sex reversal Thick upper lip vermilion Nevus flammeus Aldehyde oxidase deficiency Decreased urinary urate Anemia Tinnitus White mater abnormalities in the posterior periventricular region Distal sensory impairment of all modalities Lip telangiectasia Angiokeratoma corporis diffusum Angiokeratoma Progressive distal muscle weakness Motor polyneuropathy Telangiectasia of the skin Axonal degeneration Opacification of the corneal stroma Short nose Telangiectasia Bilateral sensorineural hearing impairment Polyneuropathy Distal sensory impairment Vertigo Peripheral axonal neuropathy Dry skin Papule Distal muscle weakness Abnormality of the eye Telangiectasia of the oral mucosa Long face Increased urinary thiosulfate Hypouricemia Reduced xanthine dehydrogenase activity Increased urinary sulfite Decreased urinary sulfate Xanthine nephrolithiasis Sulfite oxidase deficiency Xanthinuria Increased urinary hypoxanthine Molybdenum cofactor deficiency Increased urinary taurine Abnormal muscle tone Myoclonic spasms Brain atrophy Lens luxation Axonal loss Opisthotonus Ectopia lentis Hemiplegia Spastic tetraparesis Tetraparesis Spastic tetraplegia Neuronal loss in central nervous system Peripheral demyelination Urinary excretion of sialylated oligosaccharides Flexion contracture Periorbital fullness Thick eyebrow Nephrolithiasis Long eyelashes Renal dysplasia Abnormality of the genital system Broad-based gait Hepatitis Dental malocclusion Vesicoureteral reflux Renal cyst Bulbous nose Tall stature Hepatic failure Unsteady gait Facial asymmetry Nausea and vomiting Hypermetropia Dolichocephaly Autistic behavior Protruding ear Abnormality of the pinna Anxiety Chronic diarrhea Hypohidrosis Neonatal hypotonia 2-3 toe syndactyly Delayed CNS myelination Concave nasal ridge Heat intolerance Bruxism Arachnoid cyst Palpebral edema Impaired pain sensation Poor eye contact Weak cry Cellulitis Hypoplastic toenails Cerebral visual impairment Large hands Polycystic kidney dysplasia Recurrent upper respiratory tract infections Recurrent skin infections Abnormality of the outer ear Sacral dimple Accelerated skeletal maturation Short chin Multicystic kidney dysplasia Pointed chin Hydronephrosis Umbilical hernia Edema Hypertriglyceridemia Rimmed vacuoles Basal ganglia calcification Hypermelanotic macule Long fingers Glucose intolerance Growth abnormality Conjunctivitis Bone pain Hyperpigmentation of the skin Inability to walk Abnormally large globe Camptodactyly of finger Scarring Abnormality of the liver Erythema Arthritis Elevated hepatic transaminase Hepatosplenomegaly Osteopenia Babinski sign Thrombocytopenia Myositis Immune dysregulation Gastroesophageal reflux Behavioral abnormality Autism Hyperactivity Constipation Clinodactyly of the 5th finger Hyporeflexia Patent ductus arteriosus Obesity Midface retrusion Headache Malar flattening Diarrhea Generalized lipodystrophy Vomiting Atrial septal defect Ventricular septal defect Adipose tissue loss Finger swelling Stiff skin Episcleritis Panniculitis Hypochromic anemia Flexion contracture of toe Long foot


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