Hypertelorism, and Proximal muscle weakness

Diseases related with Hypertelorism and Proximal muscle weakness

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

Top matches:

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

Other less relevant matches:

Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Visual impairment
  • Macrocephaly
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME

Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.

NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY Is also known as n-acyl-l-amino acid amidohydrolase deficiency|acy1d

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns|neurofibromatosis type 1-noonan syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Top 5 symptoms//phenotypes associated to Hypertelorism and Proximal muscle weakness

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Decreased fetal movement Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Proximal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Flexion contracture Downslanted palpebral fissures Cryptorchidism Arthrogryposis multiplex congenita Motor delay Hearing impairment Neonatal hypotonia Scoliosis Facial palsy Ptosis Generalized muscle weakness Short stature Myopathic facies Kyphosis Scaphocephaly Intellectual disability Dilatation Webbed neck Muscular dystrophy Seizures Areflexia Macrocephaly Akinesia Feeding difficulties Respiratory insufficiency Fetal akinesia sequence Apnea Cystic hygroma Increased intracranial pressure Polyhydramnios

Rare Symptoms - Less than 30% cases

Respiratory insufficiency due to muscle weakness Global developmental delay Skeletal muscle atrophy Micropenis Limb muscle weakness Delayed speech and language development Joint hypermobility Type 1 muscle fiber predominance Growth delay Nemaline bodies Pterygium Inability to walk Hydrops fetalis Talipes equinovarus Edema Multiple cafe-au-lait spots Single transverse palmar crease Dysphagia Cleft palate Dolichocephaly Muscular hypotonia Hyperlordosis Midface retrusion Micrognathia Wide nasal bridge Respiratory distress Mandibular prognathia Respiratory tract infection Falls Dental malocclusion Frequent falls Overgrowth Poor suck Multiple joint contractures Intellectual disability, moderate Hypertonia Headache Abnormal facial shape Kyphoscoliosis Frontal bossing Pectus excavatum Hand polydactyly Breast carcinoma Long penis Goiter Cellular immunodeficiency Bone cyst Intestinal polyposis Decreased antibody level in blood Melanoma Neoplasm of the skin Ovarian cyst Astrocytoma Palmoplantar hyperkeratosis Abnormality of the uterus Cavernous hemangioma Papilloma Enlarged polycystic ovaries Arteriovenous malformation Lymphoma Cranial nerve paralysis Hamartomatous polyposis Drooling Hypopigmented skin patches Fibroma Generalized hyperkeratosis Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Adenoma sebaceum Colonic diverticula Subcutaneous lipoma Furrowed tongue Incoordination Intention tremor Renal cell carcinoma Cutis marmorata Intracranial hemorrhage Macule Abnormality of the thyroid gland Multiple lipomas Cellulitis Cafe-au-lait spot Gynecomastia Acute myeloid leukemia Hamartoma Hyperthyroidism Ovarian neoplasm Thyroiditis Hodgkin lymphoma Hashimoto thyroiditis Melanocytic nevus Telangiectasia Broad thumb Hydrocele testis Lymphopenia Meningioma Megalencephaly Subcutaneous nodule Hemangioma Lipoma Skin tags Chronic diarrhea Exotropia Prolactin excess Papilledema Abnormality of the vasculature Dysdiadochokinesis Merkel cell skin cancer Abnormality of the penis Aplasia/Hypoplasia of the corpus callosum Aplasia/Hypoplasia of the cerebellar vermis Acute encephalopathy Delayed CNS myelination Syringomyelia Limb hypertonia Opisthotonus Hemiplegia Absence seizures Low-set, posteriorly rotated ears Febrile seizures Wide nose Muscular hypotonia of the trunk Abnormality of the nervous system Hyperactivity Encephalopathy Cerebral atrophy Vomiting Hypertrophic cardiomyopathy Pulmonic stenosis Sensorineural hearing impairment Gait ataxia Cutaneous finger syndactyly Short finger Hyperostosis Tetraparesis Small nail Nail dysplasia Facial asymmetry Syndactyly Specific learning disability Abnormality of the skeletal system Gait disturbance Abdominal wall muscle weakness Abnormality of the lymphatic system Abnormality of the helix Prolonged bleeding time Abnormality of the thorax Abnormality of the face Cerebellar atrophy Oval face Angioid streaks of the fundus Mucosal telangiectasiae Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Pseudopapilledema Conjunctival hamartoma Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Dysplastic gangliocytoma of the cerebellum Ductal carcinoma in situ Overlapping fingers Thickened calvaria Joint contracture of the hand High, narrow palate Arachnodactyly Small for gestational age Camptodactyly Broad jaw Mild global developmental delay Increased bone mineral density Abnormal cerebellum morphology Broad forehead Craniosynostosis High forehead Brachycephaly Optic atrophy Visual impairment Lobular carcinoma in situ Multiple trichilemmomata Macroglossia Tibialis atrophy Hypoplasia of the maxilla Respiratory arrest Dysarthria Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Congenital ptosis Diaphragmatic eventration Severe lactic acidosis Hypospadias Breech presentation Hyperphosphatemia Low hanging columella Thoracic kyphosis Malignant hyperthermia Myoglobinuria Acute kidney injury Long philtrum Hyporeflexia Abnormality of the sternum Rocker bottom foot Slender build EMG: neuropathic changes Spinal rigidity Bulbar palsy Pericardial effusion Mildly elevated creatine phosphokinase Congenital contracture Abnormality of the eye Adducted thumb EMG: myopathic abnormalities Foot dorsiflexor weakness Large fontanelles Waddling gait Talipes Distal muscle weakness Rhabdomyolysis Hyperkalemia Neck flexor weakness Epicanthus Pes cavus Elevated serum creatine phosphokinase Arrhythmia Malar flattening Renal insufficiency Fever Strabismus Acidosis Fatigable weakness Weak cry Prominent occiput Gowers sign Easy fatigability Narrow palpebral fissure Long face Hyperhidrosis Rigidity Abnormality of the coagulation cascade Lumbar hyperlordosis Ventricular fibrillation Myotonia Deep philtrum Ventricular arrhythmia Tachypnea Shock Lymphedema Hypotension Myalgia Abnormal bleeding Muscle cramps Metabolic acidosis Tachycardia Lactic acidosis Pectus carinatum Stroke Abnormality of the rib cage Hand clenching Palmoplantar keratoderma Sternocleidomastoid amyotrophy Pain Failure to thrive Neoplasm Ataxia Type 1 and type 2 muscle fiber minicore regions Abnormal muscle morphology Frog-leg posture Cognitive impairment Rectus femoris muscle atrophy Muscle fiber hypertrophy Internally nucleated skeletal muscle fibers Type 1 muscle fiber atrophy Minicore myopathy Functional respiratory abnormality Generalized limb muscle atrophy Cataract Brachydactyly Increased nuchal translucency Narrow mouth Polymicrogyria Nausea and vomiting Papule Leukemia Abnormality of the kidney Carcinoma Hypothyroidism Autism Myopia Recurrent infections Immunodeficiency Intellectual disability, mild Diarrhea Atrial septal defect Hydrocephalus Tremor Muscle fiber necrosis 3-Methylglutaconic aciduria Multiple pterygia Recurrent respiratory infections Pulmonary hypoplasia Ophthalmoplegia Prominent nasal bridge Feeding difficulties in infancy Joint laxity Respiratory failure Pneumonia Cyanosis Clinodactyly Short neck Late-onset distal muscle weakness Mitochondrial depletion Transient myeloproliferative syndrome Severe hydrops fetalis Calf muscle pseudohypertrophy Aciduria Bradycardia Axial muscle weakness Difficulty running Increased connective tissue Exercise-induced myalgia Shoulder girdle muscle weakness Facial diplegia Bell-shaped thorax Severe postnatal growth retardation Distal arthrogryposis Centrally nucleated skeletal muscle fibers Narrow face Increased variability in muscle fiber diameter Bilateral cryptorchidism Mask-like facies Congenital muscular dystrophy Tented upper lip vermilion Scrotal hypoplasia External ophthalmoplegia Sclerotic vertebral endplates


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