Muscle weakness, and Low-set ears

Diseases related with Muscle weakness and Low-set ears

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


Top matches:

Low match ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9


Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Low-set ears
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9

Low match NEUROFIBROMATOSIS-NOONAN SYNDROME


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

Low match FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3


HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

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Other less relevant matches:

Low match BRANCHIOOTIC SYNDROME


Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).

BRANCHIOOTIC SYNDROME Is also known as bo syndrome 1|branchiootic dysplasia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIOOTIC SYNDROME

Low match MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19


Congenital myasthenic syndrome-19 is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19

Low match INTERMEDIATE NEMALINE MYOPATHY


Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.

Related symptoms:

  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about INTERMEDIATE NEMALINE MYOPATHY

Low match MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11


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

Low match AURICULOCONDYLAR SYNDROME 2; ARCND2


Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Low match OTOFACIOCERVICAL SYNDROME


Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.

OTOFACIOCERVICAL SYNDROME Is also known as fara-chlupackova syndrome|ofc1|ofc syndrome|ofc

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B


Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Top 5 symptoms//phenotypes associated to Muscle weakness and Low-set ears

Symptoms // Phenotype % cases
Facial palsy Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscle weakness and Low-set ears. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Generalized hypotonia Generalized muscle weakness High palate Feeding difficulties Cleft palate Preauricular skin tag Hypertelorism Flexion contracture Dysphagia Apnea

Rare Symptoms - Less than 30% cases


Dental malocclusion Neonatal hypotonia Depressed nasal bridge Full cheeks Anteverted nares Conductive hearing impairment Gastroesophageal reflux Posteriorly rotated ears Sensorineural hearing impairment Retrognathia Respiratory insufficiency Motor delay Respiratory distress Facial diplegia Upper airway obstruction Arthrogryposis multiplex congenita Facial asymmetry Atresia of the external auditory canal Glossoptosis Respiratory failure Ophthalmoplegia Low-set, posteriorly rotated ears Poor suck Preauricular pit Decreased fetal movement Cupped ear Abnormality of the thorax Bulbar palsy Long face Mandibular condyle aplasia Question mark ear Speech articulation difficulties Mandibular condyle hypoplasia Cleft at the superior portion of the pinna Intellectual disability Temporomandibular joint ankylosis Hypoplastic superior helix Overfolding of the superior helices Dental crowding Snoring Weak cry Frequent falls Narrow palpebral fissure Easy fatigability Gowers sign Multiple joint contractures Prominent occiput Falls Fatigable weakness Long penis Macrocephaly Narrow mouth Hirsutism Respiratory tract infection Round face Mandibular prognathia Ankylosis Central apnea Hyperreflexia Protruding ear Abnormality of the skeletal system Leukoencephalopathy Abdominal pain Hypoglycemia Abnormality of the cerebral white matter Malabsorption Unsteady gait Abdominal distention Hepatic fibrosis Decreased liver function External ophthalmoplegia Ragged-red muscle fibers Encephalopathy Cachexia Hypokalemia Bilateral talipes equinovarus Malnutrition Celiac disease Mitochondrial myopathy Progressive external ophthalmoplegia Hypomagnesemia Slender build Gastrointestinal dysmotility Constipation Myopathy Short neck Abnormality of the clavicle Hypertonia Intellectual disability, mild Delayed skeletal maturation Macrotia Multiple prenatal fractures Neurological speech impairment Scapular winging Abnormal dermatoglyphics Renal hypoplasia/aplasia Narrow nose Abnormality of the antihelix Ventriculomegaly Down-sloping shoulders Lacrimal duct stenosis Long neck Unilateral facial palsy Cholesteatoma Seizures Ataxia Growth delay Peripheral neuropathy Talipes equinovarus Wide nasal bridge Recurrent lower respiratory tract infections Type 1 muscle fiber predominance Paralysis Abdominal wall muscle weakness Strabismus Abnormal facial shape Delayed speech and language development Epicanthus Dysarthria Short nose Midface retrusion Hypermetropia Abnormality of the helix Smooth philtrum Downturned corners of mouth Esotropia High hypermetropia Facial paralysis High-frequency hearing impairment Esophoria Accommodative esotropia Abnormality of the lymphatic system Multiple cafe-au-lait spots Abnormality of the pinna Ventricular extrasystoles Brachydactyly Syndactyly Clinodactyly Stroke Tachycardia Syncope Atrial fibrillation Ventricular tachycardia Paroxysmal atrial fibrillation Prolonged bleeding time Thromboembolic stroke Cryptorchidism Downslanted palpebral fissures Hypertrophic cardiomyopathy Pulmonic stenosis Webbed neck Specific learning disability Abnormality of the face Abnormality of the kidney Microtia Nemaline bodies Areflexia Exercise intolerance Poor head control Spinal rigidity Centrally nucleated skeletal muscle fibers Chronic lung disease Skeletal muscle atrophy Cardiomyopathy Long philtrum Hyporeflexia Pectus carinatum Polyhydramnios Difficulty walking High, narrow palate Premature birth Severe muscular hypotonia EMG: myopathic abnormalities Myopathic facies Hypokinesia Abnormal lung morphology Joint laxity Abnormality of the outer ear Abnormality of the inner ear Sleep apnea Laryngomalacia Mixed hearing impairment Severe sensorineural hearing impairment Obstructive sleep apnea Abnormal nasolacrimal system morphology Body odor Branchial cyst Branchial fistula Rigidity Tracheobronchomalacia Lip pit Cochlear malformation Hypoplasia of the cochlea Branchial anomaly Morphological abnormality of the middle ear Dilatated internal auditory canal Pes cavus Dyspnea Sensory ataxic neuropathy



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