Muscle weakness, and Conductive hearing impairment

Diseases related with Muscle weakness and Conductive hearing impairment

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


Top matches:

Low match DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68


Related symptoms:

  • Hearing impairment
  • Conductive hearing impairment


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68

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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 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD


Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997).The delineation of separate autosomal dominant and autosomal recessive (CMDR ) forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD Is also known as cmdj|cmd|craniometaphyseal dysplasia, jackson type

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD

Low match CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD


Craniodiaphyseal dysplasia is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD

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 CRANIOMETAPHYSEAL DYSPLASIA


Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA

Low match AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1


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

Top 5 symptoms//phenotypes associated to Muscle weakness and Conductive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Facial palsy Uncommon - Between 30% and 50% cases
Mandibular prognathia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscle weakness and Conductive hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Intellectual disability Hyperostosis Depressed nasal bridge Short stature Sensorineural hearing impairment Mixed hearing impairment

Rare Symptoms - Less than 30% cases


Abnormality of the skeletal system Sclerosis of skull base Blindness Prominent supraorbital ridges Metaphyseal widening Flared metaphysis Metaphyseal dysplasia Nasal obstruction Unilateral facial palsy Abnormality of the nasopharynx Cranial nerve compression Visual loss Asymmetry of the mandible Club-shaped distal femur Optic atrophy Respiratory distress Choanal atresia Telecanthus Global developmental delay Bony paranasal bossing Craniofacial hyperostosis Facial asymmetry Atresia of the external auditory canal Low-set ears Preauricular pit Preauricular skin tag Delayed eruption of permanent teeth Epiphora Osteopetrosis Abnormal cranial nerve morphology Nasolacrimal duct obstruction Facial hyperostosis Broad alveolar ridges Patchy sclerosis of finger phalanx Scoliosis Strabismus Hydrocephalus Abnormality of the thorax Branchial anomaly Micrognathia Lacrimal duct stenosis Abnormal dermatoglyphics Renal hypoplasia/aplasia Narrow nose Abnormality of the clavicle Abnormality of the antihelix Down-sloping shoulders Long neck Abnormality of the metaphysis Cholesteatoma Abnormal facial shape Visual impairment Skeletal dysplasia Coarse facial features Cleft palate Relative macrocephaly Kyphosis Abnormality of the dentition Reduced number of teeth Axenfeld anomaly Bilateral choanal atresia Polycoria Rieger anomaly Abnormality of the abdominal wall Anterior synechiae of the anterior chamber Hypoplasia of the iris Posterior embryotoxon Megalocornea Aniridia Anal stenosis Abnormality of dental morphology Myotonia Slurred speech Hypoplasia of dental enamel Full cheeks Short philtrum Hernia Hypospadias Inguinal hernia Glaucoma Umbilical hernia Thin upper lip vermilion Anal atresia Microdontia Confusion Everted lower lip vermilion Microcornea Hypodontia Hypoplasia of the maxilla Growth hormone deficiency Scapular winging Protruding ear Long face Chronic otitis media Cupped ear Calvarial osteosclerosis Bilateral facial palsy Erlenmeyer flask deformity of the femurs Severe sensorineural hearing impairment Glossoptosis Obstructive sleep apnea Upper airway obstruction Misalignment of teeth Abnormal nasolacrimal system morphology Abnormality of the vertebral column Osteomyelitis Body odor Branchial cyst Abnormality of the inner ear Sleep apnea Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Tinnitus Overgrowth Otitis media Delayed eruption of teeth Branchial fistula Prominent forehead Tracheobronchomalacia Lip pit Cochlear malformation Feeding difficulties Hypoplasia of the cochlea Dilatated internal auditory canal Laryngomalacia Abnormality of the outer ear Neurological speech impairment Craniofacial osteosclerosis Morphological abnormality of the middle ear Macrotia Delayed skeletal maturation Intellectual disability, mild Hypertonia Short neck Anteverted nares Retrognathia Hyperreflexia High palate Abnormality of the kidney Apnea Cortical sclerosis Thickened ribs Diaphyseal sclerosis Headache Hyperparathyroidism Genu valgum Progressive visual loss Microtia Increased bone mineral density Increased intracranial pressure Elevated alkaline phosphatase Papilledema Bilateral conductive hearing impairment Facial diplegia Choanal stenosis Concave nasal ridge Elevated circulating parathyroid hormone level Parathyroid adenoma Abnormality of the pinna Abnormally prominent line of Schwalbe



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