Dysarthria, and Mandibular prognathia

Diseases related with Dysarthria and Mandibular prognathia

In the following list you will find some of the most common rare diseases related to Dysarthria and Mandibular prognathia 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. 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

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Other less relevant matches:

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Mandibular prognathia

Symptoms // Phenotype % cases
Strabismus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Abnormal facial shape Cryptorchidism Gait disturbance Generalized hypotonia Delayed speech and language development Microcephaly Hearing impairment Muscular hypotonia Ataxia Clinodactyly Abnormality of the pinna Neoplasm Hypertelorism Hypermetropia Ptosis Cataract Nystagmus High palate Dental malocclusion Sparse hair Micrognathia Prominent nasal bridge Umbilical hernia Short philtrum Smooth philtrum Slurred speech Small for gestational age Inguinal hernia Intellectual disability, mild Apraxia Speech apraxia Epicanthus Neonatal hypotonia Abnormality of the dentition Abnormality of cardiovascular system morphology Hypothyroidism Dental crowding Hypoplasia of the corpus callosum Tremor Downslanted palpebral fissures Optic atrophy Intrauterine growth retardation Triangular face Spasticity Camptodactyly Synophrys Myopia Muscle weakness Deeply set eye Anteverted nares Cleft palate

Rare Symptoms - Less than 30% cases

Hypogonadism Atrial septal defect Abnormality of the skeletal system Brachydactyly Hyperreflexia Gastroesophageal reflux Dry hair Cerebral calcification Basal ganglia calcification Anxiety Feeding difficulties in infancy Wide mouth Attention deficit hyperactivity disorder Broad forehead Clinodactyly of the 5th finger Abnormal heart morphology Upslanted palpebral fissure Hyperactivity Arrhythmia Conductive hearing impairment Camptodactyly of finger Wide nasal bridge Underdeveloped nasal alae Microdontia Short palpebral fissure Failure to thrive Scoliosis Abnormality of the fingernails Abnormality of the clavicle Broad columella Postural tremor Carious teeth Trigonocephaly Hypoplasia of the maxilla Joint laxity Babinski sign Micropenis High forehead Sensorineural hearing impairment Postnatal growth retardation Retinopathy Polyneuropathy Hypoplastic iliac wing Large hands Lymphedema Broad thumb Fine hair Overgrowth Broad nasal tip Pes cavus Hypertension High pitched voice Severe short stature Language impairment High hypermetropia Poor fine motor coordination Expressive language delay Low hanging columella Flexion contracture Delayed skeletal maturation Cutaneous photosensitivity Kyphosis Long philtrum Hernia Hypotelorism Pigmentary retinopathy Bilateral ptosis Growth delay Kyphoscoliosis Abnormality of movement Tall stature Visual impairment Cerebral atrophy Feeding difficulties Bifid uvula Dysphagia Hyperextensibility of the finger joints Low-set ears Talipes equinovarus Neurological speech impairment High, narrow palate Broad-based gait Motor delay Decreased muscle mass Unsteady gait Intellectual disability, moderate Absent speech Nasal speech Bulbous nose Long face Arthrogryposis multiplex congenita Hypotrichosis Glaucoma Abnormality of the cerebral white matter Spastic paraplegia Polydactyly Hip dislocation Hypoglycemia Facial palsy Finger syndactyly Proximal muscle weakness Blepharophimosis Toe syndactyly Abnormality of the nervous system Abnormality of the eye Low anterior hairline Paraplegia Spastic paraparesis Aplasia/Hypoplasia of the cerebellum Cubitus valgus Hand polydactyly Brittle hair Preaxial polydactyly Reduced number of teeth Abnormality of vision Spastic tetraparesis Skeletal muscle atrophy Abnormality of dental enamel Paraparesis Paresthesia Abnormality of the nail Hypoplasia of dental enamel Abnormality of the metaphysis Abnormal form of the vertebral bodies Fatigue Tetraparesis Respiratory failure Limb muscle weakness Palmoplantar keratoderma Flat face Cleft upper lip Microcornea Blindness Visual loss Opacification of the corneal stroma Progeroid facial appearance Atypical scarring of skin Severe postnatal growth retardation Abnormality of visual evoked potentials Gowers sign Thickened calvaria Reduced subcutaneous adipose tissue Anhidrosis Decreased nerve conduction velocity Neoplasm of the skin Atherosclerosis Knee flexion contracture Easy fatigability Leukodystrophy Anorexia Ophthalmoparesis Peripheral demyelination Limitation of joint mobility Abnormality of skin pigmentation Dry skin Proteinuria Dementia Abnormality of the immune system Renal insufficiency Hypoplastic pelvis Menstrual irregularities Microphthalmia Peripheral dysmyelination Syndactyly Short nose Hyperostosis Edema Ventricular septal defect Muscle cramps Decreased fetal movement Respiratory insufficiency due to muscle weakness Thymic hormone decreased Patchy demyelination of subcortical white matter Ivory epiphyses of the phalanges of the hand Square pelvis bone Hypoplasia of teeth Slender nose Increased cellular sensitivity to UV light Severe photosensitivity Normal pressure hydrocephalus Loss of facial adipose tissue Decreased lacrimation Chorioretinitis Retinal pigment epithelial mottling Delayed eruption of primary teeth Abnormal auditory evoked potentials CNS demyelination Preaxial hand polydactyly Premature loss of teeth Non-midline cleft lip Recurrent otitis media Preauricular pit Impulsivity Clubbing Abnormality of the voice Abnormality of the hand Nephrocalcinosis Finger clinodactyly Generalized hirsutism Short thumb Long eyelashes Low posterior hairline Proportionate short stature Interphalangeal joint contracture of finger Coarctation of aorta Hypoplasia of penis Otitis media Prominent nose Small hand Downturned corners of mouth Hirsutism Thin vermilion border Joint hyperflexibility Poor speech Celiac disease Short clavicles Craniosynostosis Varicocele Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Curved fingers Enlarged naris Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Short upper lip Sprengel anomaly Spinal dysraphism Stiff neck Tethered cord Enlarged joints 11 pairs of ribs Villous atrophy Enuresis Short attention span Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Malabsorption Joint stiffness Abnormality of the ear Retinal dysplasia Pseudohypoparathyroidism Selective tooth agenesis Trichorrhexis nodosa Short middle phalanx of the 5th finger Slow-growing hair Neurogenic bladder Abnormality of the nose Abnormal cortical bone morphology Short hallux Mild global developmental delay Fragile nails Abnormal diaphysis morphology Taurodontia Hypoparathyroidism Narrow nose Median cleft lip External ear malformation Intellectual disability, severe Hyperactive deep tendon reflexes Curly hair Metaphyseal dysplasia Narrow nasal bridge Progressive spasticity Premature loss of primary teeth Narrow nasal ridge Telecanthus Thin anteverted nares Aggressive behavior Arthritis Hydronephrosis Thin upper lip vermilion Posteriorly rotated ears Constipation Hypospadias Dilatation Headache Vomiting Short neck Vertebral hyperostosis Progressive spastic paraparesis 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Optic nerve dysplasia Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Cranial hyperostosis Madelung deformity Broad alveolar ridges Splenomegaly Shuffling gait Hydrocephalus Sparse eyebrow Hypertonia Macrocephaly Depressed nasal bridge Hyperpigmentation of the skin Narrow face Pain Spontaneous abortion Receptive language delay Central sleep apnea Prominent nasal tip Abnormality of the pharynx Thick lower lip vermilion Hypocholesterolemia Abnormal renal morphology Abnormality of chromosome segregation Echolalia Bipolar affective disorder Poor eye contact Disproportionate tall stature Dysphasia Open bite Abnormality of dental morphology Behavioral abnormality Intellectual disability, profound Long fingers Lymphoma Coxa valga Pointed chin Short ribs Hoarse voice Joint contracture of the hand Pachygyria Hypertrichosis Recurrent fractures Amenorrhea Nail dysplasia Round face High myopia Talipes Platyspondyly Leukemia Postural instability Generalized myoclonic seizures Retrognathia Macrotia Hyperhidrosis Prominent forehead Webbed neck Wide intermamillary distance Oral-pharyngeal dysphagia Slender finger Cutis laxa Abnormality of the pulmonary artery Muscular hypotonia of the trunk Coloboma Corneal opacity Congenital cataract Pulmonic stenosis Frontal cortical atrophy Truncal titubation Craniofacial asymmetry Scanning speech Broad distal phalanx of finger Titubation Frontal bossing Hypopigmentation of the skin Hypoplasia of the fovea Hearing abnormality Hypoplasia of the iris Aniridia Brisk reflexes Mask-like facies Abnormal cerebellum morphology Involuntary movements Limb ataxia Reduced visual acuity Gait ataxia Failure to thrive in infancy Long hallux Patent foramen ovale Infantile muscular hypotonia Sleep apnea Hypercholesterolemia Stereotypy Abnormality of the cardiovascular system Delayed myelination Epileptic spasms Slender build Small earlobe Narrow palm Cerebral cortical atrophy Focal motor seizures Autistic behavior Long palm Abnormality of the kidney Apnea Low-set, posteriorly rotated ears Asymmetry of the ears EEG abnormality Cerebellar atrophy Autism Cerebellar hypoplasia Accelerated skeletal maturation Back pain Hepatomegaly Limb undergrowth Lymphopenia Insulin resistance Abnormal lung morphology Type 2 muscle fiber atrophy Renal hypoplasia Epidermal acanthosis EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Sloping forehead Bradykinesia Decreased size of nerve terminals Decreased testicular size Bone marrow hypocellularity Convex nasal ridge Renal agenesis Progressive cerebellar ataxia Sensory neuropathy Falls Dysmetria Dilated cardiomyopathy Abnormal pyramidal sign Pectus excavatum Rigidity Hypergonadotropic hypogonadism Short chin Osteoporosis Abnormality of lipid metabolism Weak cry Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Poor head control Misalignment of teeth Fatigable weakness Increased circulating gonadotropin level Cerebellar vermis atrophy Acanthosis nigricans Long nose Truncal obesity Cortical gyral simplification Ectopic kidney Limb-girdle muscle weakness Sensory axonal neuropathy Bilateral cryptorchidism Unilateral renal agenesis Dysdiadochokinesis Goiter Leukopenia Myoclonus Brachycephaly Arachnodactyly Down-sloping shoulders Thin nail Thoracolumbar kyphosis Calcaneovalgus deformity Dimple chin Broad philtrum Dilation of lateral ventricles Broad face Large earlobe Hydrocele testis Diastasis recti Prolactin excess Galactorrhea Acute lymphoblastic leukemia Inverted nipples Secondary amenorrhea Absent septum pellucidum Limited elbow extension Bilateral talipes equinovarus Large for gestational age Overlapping toe Metatarsus adductus Flat occiput Radial deviation of finger Teratoma Prominent fingertip pads Diabetes mellitus Anemia Narrow mouth Difficulty walking Obesity Thrombocytopenia Midface retrusion Recurrent infections Immunodeficiency Cardiomyopathy Ventriculomegaly Peripheral neuropathy Pectus carinatum Short fourth metatarsal Facial asymmetry Dysharmonic bone age Flared humeral metaphysis Abnormally low-pitched voice Limited knee extension Flared femoral metaphysis Lumbar kyphosis Sacrococcygeal teratoma Deep-set nails Horizontal eyebrow Vertebral wedging Mesocardia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Tall stature, related diseases and genetic alterations Autoimmunity and Neutropenia, related diseases and genetic alterations Motor delay and Nail dysplasia, related diseases and genetic alterations Motor delay and Hypertonia, related diseases and genetic alterations Anemia and Retinal detachment, related diseases and genetic alterations Cleft palate and Microcornea, related diseases and genetic alterations