Autoimmunity, and Dental crowding

Diseases related with Autoimmunity and Dental crowding

In the following list you will find some of the most common rare diseases related to Autoimmunity and Dental crowding that can help you solving undiagnosed cases.


Top matches:

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION


Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION Is also known as spg49|autosomal recessive spastic paraplegia type 49|hsan due to tecpr2 mutation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION

Low match MYOPATHY, MYOFIBRILLAR, 8; MFM8


Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs. Upper and lower limbs are affected, and some individuals develop distal muscle weakness and atrophy. Ambulation is generally preserved, and patients do not have significant respiratory compromise. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization (summary by O'Grady et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 8; MFM8

Low match FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

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Other less relevant matches:

Low match MENTAL RETARDATION, X-LINKED 41; MRX41


Nonsyndromic mental retardation.

MENTAL RETARDATION, X-LINKED 41; MRX41 Is also known as mental retardation, x-linked 48|mrx48

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 41; MRX41

Low match HEIMLER SYNDROME 2; HMLR2


Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, {214100}), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015).For a discussion of genetic heterogeneity of Heimler syndrome, see HMLR1 (OMIM ).

HEIMLER SYNDROME 2; HMLR2 Is also known as peroxisome biogenesis disorder 4c|pbd4c

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Talipes equinovarus
  • Pes planus
  • Bilateral sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about HEIMLER SYNDROME 2; HMLR2

Low match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Low match X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME


X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.

Related symptoms:

  • Seizures
  • Microcephaly
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME

Low match MENTAL RETARDATION, X-LINKED 19; MRX19


X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Low match MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

Low match ACHONDROPLASIA


Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Top 5 symptoms//phenotypes associated to Autoimmunity and Dental crowding

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Dental crowding. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Thin upper lip vermilion Intellectual disability, moderate Hearing impairment Sensorineural hearing impairment Global developmental delay Abnormal facial shape Abnormality of the skeletal system Limb undergrowth

Rare Symptoms - Less than 30% cases


Long philtrum Depressed nasal bridge Intellectual disability, severe Hypertelorism Frontal bossing Brachydactyly Macrocephaly High palate Anteverted nares Abnormality of the dentition Midface retrusion Severe short stature Conductive hearing impairment Camptodactyly Dental malocclusion Chronic otitis media Mesomelia Muscular hypotonia Delayed speech and language development Pes planus Cryptorchidism Areflexia Gastroesophageal reflux Dysarthria Scoliosis Microcephaly Apnea Respiratory tract infection Recurrent respiratory infections Coarse facial features Pulmonary artery stenosis Tapered finger Long foot Single transverse palmar crease Knee flexion contracture Laryngomalacia Self-injurious behavior Ankle contracture Thick lower lip vermilion Severe postnatal growth retardation Kyphoscoliosis Branchial cyst Sacral lipoma Broad nasal tip Protruding ear Small for gestational age Motor delay Intellectual disability, mild Prominent forehead Finger syndactyly Ptosis Mandibular prognathia Oligodontia Wide mouth Short distal phalanx of finger Cerebellar atrophy Otitis media Overgrowth Broad thumb Short phalanx of finger Gingival overgrowth Increased bone mineral density Hypoplasia of the corpus callosum Hypospadias Short neck Thickened calvaria Depressed nasal tip Generalized osteosclerosis Narrow naris Triangular mouth Mesomelic short stature Narrow nasal tip Otitis media with effusion Strabismus Recurrent infections Poor speech Hypermetropia Disproportionate short stature Clonus Wormian bones Acanthosis nigricans Disproportionate short-limb short stature Short long bone Genu varum Abnormality of pelvic girdle bone morphology Elbow dislocation Flared metaphysis Limited elbow extension Spinal canal stenosis Bowing of the long bones Obstructive sleep apnea Abnormality of the elbow Large forehead Diaphyseal thickening Neonatal short-limb short stature Long thorax Aplasia/hypoplasia of the extremities Narrow sacroiliac notch Childhood onset short-limb short stature Abnormality of the ilium Rhizomelia Abnormal form of the vertebral bodies Esotropia Malar flattening Psychosis Amblyopia Open bite Short attention span Hyperplasia of the maxilla Hyperreflexia Intrauterine growth retardation Ventriculomegaly Hydrocephalus Kyphosis Obesity Abnormality of the metaphysis Hyperhidrosis Hyperlordosis Joint stiffness Neurological speech impairment Narrow chest Joint hyperflexibility Micromelia Short palm Sudden cardiac death Abnormality of the ribs Lumbar hyperlordosis Cerebral atrophy Skeletal dysplasia Cleft lip Congestive heart failure Neck muscle weakness Progressive proximal muscle weakness Nemaline bodies Myofibrillar myopathy Reduced vital capacity Growth delay Pain Cardiomyopathy Atrial septal defect Pectus excavatum Spinal rigidity Posteriorly rotated ears Upslanted palpebral fissure Dyspnea Central apnea Joint laxity Hypertrophic cardiomyopathy Hypomimic face Short philtrum Broad forehead Pulmonic stenosis Difficulty running Difficulty climbing stairs Tachycardia Feeding difficulties in infancy Peripheral neuropathy Dysphagia Myopathy Hyporeflexia Elevated serum creatine phosphokinase Pes cavus Muscle weakness Neonatal hypotonia Proximal muscle weakness Facial palsy Distal muscle weakness Generalized amyotrophy Peripheral axonal neuropathy Falls Frequent falls Tall stature Progressive muscle weakness Scapular winging Poor head control Easy fatigability Nasal speech Gowers sign Long face High, narrow palate Umbilical hernia Wide nasal bridge Talipes equinovarus Bilateral sensorineural hearing impairment Hypoplasia of dental enamel Taurodontia Leukonychia Spastic gait Round face Full cheeks Dysmetria Paraplegia Spastic paraplegia Low anterior hairline Downslanted palpebral fissures Gait ataxia Short nose Brachycephaly Hernia Clinodactyly Micropenis Proptosis High forehead Feeding difficulties Aspiration Absence seizures Small hand Striae distensae Chest pain Convex nasal ridge Broad neck Abnormality of the cardiovascular system Mitral valve prolapse Atrial fibrillation Mitral regurgitation Aortic regurgitation Disproportionate tall stature Abnormal heart valve morphology Thromboembolism Pointed chin Supraventricular tachycardia Endocarditis Tricuspid valve prolapse Asthenia Mastoiditis Bacterial endocarditis Quadricuspid aortic valve Reversed usual vertebral column curves Cognitive impairment Mild short stature Acromelia



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