Muscle weakness, and Upslanted palpebral fissure

Diseases related with Muscle weakness and Upslanted palpebral fissure

In the following list you will find some of the most common rare diseases related to Muscle weakness and Upslanted palpebral fissure 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

PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY 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

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

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.

BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about BETA-THALASSEMIA MAJOR

Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.

INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME Is also known as wieacker syndrome|contractures of feet, muscle atrophy, and oculomotor apraxia|foot contractures-muscle atrophy-oculomotor apraxia syndrome|wieacker-wolff syndrome|mrxs4|apraxia, oculomotor, with congenital contractures and muscle atrophy|mcs|miles-carpen

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Top 5 symptoms//phenotypes associated to Muscle weakness and Upslanted palpebral fissure

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Muscle weakness and Upslanted palpebral fissure. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Hyperreflexia Seizures Feeding difficulties Skeletal muscle atrophy Abnormal facial shape Short stature Flexion contracture Retrognathia Ptosis Absent speech Depressed nasal bridge Epicanthus High palate Delayed myelination Hypertonia Macrotia Dystonia Optic atrophy Growth delay Hypoplasia of the corpus callosum Ventriculomegaly Arthrogryposis multiplex congenita Tetraplegia Narrow face Respiratory distress Strabismus Motor delay Ataxia Cerebellar atrophy Scoliosis Muscular hypotonia of the trunk Cerebellar hypoplasia Nystagmus Deeply set eye Oculomotor apraxia Cerebral atrophy

Rare Symptoms - Less than 30% cases

Cerebral cortical atrophy Hypogonadism Neurodegeneration Micropenis Drooling Intellectual disability, severe Apnea Irritability Abnormality of the nervous system Spastic paraplegia Flat occiput Severe global developmental delay Abnormality of movement Gliosis Dyspnea Convex nasal ridge Cortical dysplasia Pes planus Neoplasm Failure to thrive Neonatal hypotonia Cerebral palsy Cryptorchidism Wide nasal bridge Spastic tetraplegia CNS hypomyelination Abnormality of the dentition Brachycephaly Fasciculations Postnatal microcephaly Respiratory failure Hypothyroidism Abnormality of the foot Respiratory insufficiency Short palpebral fissure Low-set ears Mandibular prognathia Hyporeflexia Depressivity Visual impairment Abnormality of the skeletal system Kyphoscoliosis Peripheral neuropathy Hypertrichosis Inability to walk Cleft palate Anteverted ears Hypermetropia Osteoporosis Poor head control Narrow palpebral fissure Hirsutism Narrow mouth Cataract Apraxia Paralysis Hypertelorism Small for gestational age Smooth philtrum Short neck Long face Long philtrum Malar prominence Muscular hypotonia Syndactyly Clitoral hypertrophy Microcornea Encephalopathy Paresthesia Blepharophimosis Neurological speech impairment Distal muscle weakness Posterior synechiae of the anterior chamber Hip dislocation Narrow chest Facial hypertrichosis Anteverted nares Hyperlordosis Camptodactyly Facial palsy Hyperkeratosis Microphakia Clinodactyly of the 5th finger Areflexia Kyphosis Intellectual disability, mild Myopathy Delayed speech and language development Dysphagia Talipes equinovarus Posterior uveitis Brain atrophy Hyperglycinuria Increased serum ferritin Microphthalmia Monochromacy Hypersplenism Abnormal hemoglobin Abnormality of the hypothalamus-pituitary axis Neoplasm of the liver Cardiorespiratory arrest Abnormality of the skull Hypoparathyroidism Severe short stature Microcytic anemia Adrenal insufficiency Abnormality of the thorax Cholelithiasis Venous thrombosis Skin ulcer Pulmonary arterial hypertension Neutropenia Cirrhosis Agenesis of corpus callosum Posteriorly rotated ears Abnormal pupil morphology Spastic tetraparesis Retinal coloboma Enlarged cisterna magna External genital hypoplasia Neurodevelopmental delay Spastic diplegia Overlapping toe Bilateral cryptorchidism Hyperextensible skin Cerebral visual impairment Glaucoma Progressive muscle weakness Pachygyria Tetraparesis Peripheral axonal neuropathy Polymicrogyria Joint hypermobility Congenital cataract Corneal opacity Coloboma Abnormality of eye movement Attention deficit hyperactivity disorder Distal amyotrophy Deep philtrum Autoimmune hemolytic anemia Abnormality of the musculature Freckling Long nose Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Cachexia Anal stenosis Recurrent pneumonia Low anterior hairline Lymphopenia Abnormality of the hair Sinusitis Cafe-au-lait spot Telangiectasia Bronchiectasis Chronic diarrhea Neuroblastoma Acute lymphoblastic leukemia Abnormality of the face Decrease in T cell count Mastoiditis Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Abnormal hair quantity Hearing abnormality Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Acute leukemia Recurrent urinary tract infections Choanal atresia Limitation of joint mobility Rocker bottom foot Congenital foot contractures Palmar hyperkeratosis Spinal deformities U-Shaped upper lip vermilion Broad alveolar ridges High anterior hairline Fetal akinesia sequence Bulbar palsy Neonatal respiratory distress Diarrhea Akinesia Proximal placement of thumb Congenital contracture Narrow palate Elbow flexion contracture Joint contracture of the hand Exotropia Decreased fetal movement Decreased testicular size Intrauterine growth retardation Immunodeficiency Primary amenorrhea Anal atresia Cutaneous photosensitivity Sloping forehead Amenorrhea Otitis media Prominent nose Lymphoma Hemolytic anemia Cleft upper lip Leukemia Thrombocytopenia Prominent nasal bridge Delayed puberty Mental deterioration Intellectual disability, moderate Hydronephrosis Hyperactivity Recurrent respiratory infections Pneumonia Hypospadias Genu valgum Generalized muscle weakness Malabsorption Nevus Nevus flammeus Hypoplasia of the brainstem Prominent supraorbital ridges Hypergonadotropic hypogonadism Progressive microcephaly Ambiguous genitalia Esotropia Chorea Thick upper lip vermilion Abnormality of the cerebral white matter Myoclonus Tongue fasciculations Diffuse cerebral atrophy Chronic constipation Facial hypotonia Atrophy/Degeneration affecting the brainstem Cortical gyral simplification Hypoplasia of the pons Sex reversal Widely spaced teeth Thin vermilion border Insulin resistance Epidermal acanthosis Microdontia Specific learning disability Sepsis Abdominal distention High, narrow palate Dry skin Microphallus Arachnodactyly Short philtrum Wide mouth Telecanthus Hypoglycemia Coarse facial features Myopia Olivopontocerebellar hypoplasia Sparse eyebrow Severe muscular hypotonia Acanthosis nigricans Pain Facial asymmetry Finger syndactyly Myalgia Rigidity Hyperhidrosis Edema Fatigue Thick hair Bifid uvula Mild microcephaly Abnormality of finger Low posterior hairline Epileptic encephalopathy Dysmetria Sparse hair Clinodactyly Short nose Postural instability Sensory impairment Progressive neurologic deterioration Cutis gyrata of scalp Hypsarrhythmia Neuronal loss in central nervous system Developmental regression Constipation Elevated serum creatine phosphokinase Brachial plexus neuropathy Radial head subluxation Peripheral axonal degeneration Hypotelorism Neuritis Weak voice Dysesthesia Chronic pain Facial paralysis Axonal degeneration Scapular winging Hoarse voice Preauricular skin tag Hyperinsulinemia Nyctalopia Bowel incontinence Abnormality of the neck Macroorchidism Hypoplasia of the zygomatic bone Central hypotonia Hyperactive deep tendon reflexes Biparietal narrowing Generalized amyotrophy Aphasia Hypoplasia of the musculature Hallux valgus Myopathic facies Athetosis Intellectual disability, progressive Type I diabetes mellitus Muscle stiffness Bilateral single transverse palmar creases Clonus Delayed CNS myelination Rotary nystagmus Involuntary movements Arrhythmia Pallor Anxiety Elevated hepatic transaminase Jaundice Arthralgia Skeletal dysplasia Diabetes mellitus Cardiomyopathy Increased thyroid-stimulating hormone level Fever Hepatomegaly Anemia Hearing impairment Underfolded superior helices Stahl ear Abnormal conjugate eye movement Prominent antihelix Leukodystrophy Choreoathetosis Precocious puberty Thick nail Diabetic ketoacidosis Abnormal lip morphology Choroideremia Thin eyebrow Advanced eruption of teeth Long penis Fasting hypoglycemia Abnormality of the optic nerve Muscle flaccidity Long foot Ketoacidosis Insulin-resistant diabetes mellitus Protuberant abdomen Ovarian neoplasm Absent eyebrow Hyperglycemia Lipodystrophy Chorioretinal dystrophy Postprandial hyperglycemia Open mouth Protruding ear Interphalangeal joint contracture of finger Narrow forehead Cerebral calcification Increased serum lactate Urinary incontinence Paraplegia Camptodactyly of finger Joint stiffness Abnormality of the pinna Abnormality of upper lip Feeding difficulties in infancy Proptosis Babinski sign Pectus excavatum Malar flattening Gait disturbance Dysarthria Onychauxis Progressive vitiligo


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