Muscle weakness, and Mandibular prognathia

Diseases related with Muscle weakness and Mandibular prognathia

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


Top matches:

Medium match PYLE DISEASE


Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.

PYLE DISEASE Is also known as metaphyseal dysplasia|metaphyseal dysplasia, pyle type

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Abnormality of the skeletal system
  • Mandibular prognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYLE DISEASE

Medium match HYPEROSTOSIS CORTICALIS GENERALISATA


Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.

HYPEROSTOSIS CORTICALIS GENERALISATA Is also known as hyperphosphatasemia tarda|hyperostosis corticalis generalisata|van buchem disease|endosteal hyperostosis, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Optic atrophy
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPEROSTOSIS CORTICALIS GENERALISATA

Medium match SCLEROSTEOSIS 2; SOST2


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

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Other less relevant matches:

Medium match CLASSIC MULTIMINICORE MYOPATHY


CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

Medium match MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C


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. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (OMIM ) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C Is also known as cms id, formerly|myasthenia, familial infantile, 1, formerly|myasthenic syndrome, congenital, type id|cms1d, formerly|fim1, formerly

Related symptoms:

  • Generalized hypotonia
  • Strabismus
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

Medium 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

Medium 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

Medium 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 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

Top 5 symptoms//phenotypes associated to Muscle weakness and Mandibular prognathia

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Hyperostosis Uncommon - Between 30% and 50% cases
Facial palsy Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscle weakness and Mandibular prognathia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Wide nasal bridge Metaphyseal dysplasia Dental malocclusion Optic atrophy Feeding difficulties Metaphyseal widening Conductive hearing impairment Overgrowth Respiratory distress High palate Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Narrow palpebral fissure Scoliosis Nasal obstruction Poor head control Syndactyly Craniofacial hyperostosis Weak cry Multiple joint contractures Increased intracranial pressure Mixed hearing impairment Strabismus Intellectual disability Depressed nasal bridge Fatigable weakness Elevated alkaline phosphatase Sclerosis of skull base Abnormality of the nasopharynx Pain Abnormality of the skeletal system Arthrogryposis multiplex congenita Asymmetry of the mandible Long face Genu valgum Delayed eruption of teeth Increased susceptibility to fractures Abnormality of the thorax Ptosis Club-shaped distal femur Decreased fetal movement Bony paranasal bossing Craniofacial osteosclerosis Easy fatigability Blindness Headache Increased bone mineral density Gowers sign Short stature Cranial nerve compression Flared metaphysis Misalignment of teeth Abnormality of the vertebral column Osteomyelitis Type 2 muscle fiber atrophy Chronic otitis media Abnormality of pelvic girdle bone morphology Tinnitus Otitis media Prominent forehead Decreased size of nerve terminals EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Unilateral facial palsy Limb-girdle muscle weakness Abnormality of the immune system Decreased muscle mass Ophthalmoparesis Respiratory insufficiency due to muscle weakness Muscle cramps Limb muscle weakness Erlenmeyer flask deformity of the femurs Poor suck Bilateral facial palsy Abnormality of the metaphysis Thickened ribs Cortical sclerosis Abnormal facial shape Visual impairment Visual loss Skeletal dysplasia Coarse facial features Telecanthus Relative macrocephaly Bilateral conductive hearing impairment Prominent supraorbital ridges Epiphora Osteopetrosis Abnormal cranial nerve morphology Nasolacrimal duct obstruction Delayed eruption of permanent teeth Broad alveolar ridges Facial hyperostosis Diaphyseal sclerosis Parathyroid adenoma Calvarial osteosclerosis Generalized muscle weakness Micrognathia Low-set ears Flexion contracture Respiratory insufficiency Neonatal hypotonia Apnea Respiratory tract infection Falls Frequent falls Elevated circulating parathyroid hormone level Respiratory failure Prominent occiput Progressive visual loss Choanal atresia Hyperparathyroidism Papilledema Facial diplegia Choanal stenosis Concave nasal ridge Proximal muscle weakness Right ventricular hypertrophy Dysphagia Global developmental delay Facial asymmetry Nail dysplasia Small nail Tetraparesis Short finger Cutaneous finger syndactyly Sclerotic vertebral endplates Seizures Microcephaly Midface retrusion Ataxia Spasticity Hyperreflexia Cerebellar atrophy Hypertonia Dystonia Short nose Absent speech Gait ataxia Frontal bossing Clinodactyly Absent paranasal sinuses Arthralgia Platyspondyly Carious teeth Reduced bone mineral density Cubitus valgus Limited elbow extension Thickened calvaria Hypoplastic frontal sinuses Cranial nerve paralysis Gait disturbance Abnormality of the clavicle Abnormal cortical bone morphology Generalized osteosclerosis Diaphyseal thickening Cranial hyperostosis Thickened cortex of long bones Inertia Optic atrophy from cranial nerve compression Encephalopathy Cerebellar hypoplasia Fatigue Nocturnal hypoventilation Congenital muscular dystrophy High pitched voice Generalized amyotrophy Spinal rigidity Restrictive deficit on pulmonary function testing Axial muscle weakness Muscle fiber atrophy Right ventricular failure Increased muscle lipid content Microretrognathia Limited neck flexion Weakness of facial musculature Intermittent episodes of respiratory insufficiency due to muscle weakness Absent muscle fiber merosin Muscular hypotonia Motor delay Dysarthria Skeletal muscle atrophy Delayed gross motor development Mitral valve prolapse Upslanted palpebral fissure Apraxia Deeply set eye Muscular hypotonia of the trunk Sparse hair Hypermetropia Dysmetria Hirsutism Inability to walk Epileptic encephalopathy Low posterior hairline Hip dysplasia Oculomotor apraxia Abnormality of finger Mild microcephaly Thick hair Anteverted ears Failure to thrive Congestive heart failure Pes planus Patchy sclerosis of finger phalanx



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