Autoimmunity, and Retrognathia

Diseases related with Autoimmunity and Retrognathia

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


Top matches:

Low match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Low match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

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Other less relevant matches:

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2


Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

Low match HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME


HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME Is also known as ostravik-lindemann-solberg syndrome

Related symptoms:

  • Hypertelorism
  • Cryptorchidism
  • Abnormality of the skeletal system
  • Syndactyly
  • Patent ductus arteriosus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME

Low match MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME


Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY 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 CHITAYAT SYNDROME; CHYTS


Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

Top 5 symptoms//phenotypes associated to Autoimmunity and Retrognathia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Recurrent respiratory infections Micrognathia Cleft palate Depressed nasal bridge Immunodeficiency Pneumonia Ptosis Generalized hypotonia Seizures Hypothyroidism Scoliosis Abnormal heart morphology Patent ductus arteriosus Recurrent infections Delayed speech and language development Syndactyly Primary amenorrhea Amenorrhea Renal agenesis Short stature Short neck Autoimmune hemolytic anemia Thrombocytopenia Nasal speech Hemolytic anemia Hearing impairment Microcephaly Motor delay

Rare Symptoms - Less than 30% cases


Bicuspid aortic valve Perimembranous ventricular septal defect Conotruncal defect Retinal vascular tortuosity Duodenal stenosis Impaired T cell function Right aortic arch Anal stenosis Hearing abnormality Graves disease Interrupted aortic arch Aplasia of the thymus Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Myelomeningocele Truncus arteriosus Meningocele Hypoparathyroidism Recurrent pneumonia Arteria lusoria Bipolar affective disorder Gastroesophageal reflux Purpura Growth delay Neoplasm Muscle weakness Broad thumb Respiratory insufficiency Coarctation of aorta Hypospadias Hyperactivity Right aortic arch with mirror image branching Poor head control Mental deterioration Attention deficit hyperactivity disorder Craniosynostosis Anal atresia Polyhydramnios Pes cavus Flexion contracture Sacral meningocele Vitiligo Posterior embryotoxon Pectus carinatum Specific learning disability Abnormality of the pinna Blepharophimosis Bulbous nose Bifid uvula Chorea Psoriasiform dermatitis Rheumatoid arthritis Tetralogy of Fallot Anxiety Cholelithiasis Low posterior hairline Abnormality of the hand Renal dysplasia Schizophrenia Spina bifida Hypocalcemia Arnold-Chiari malformation Aggressive behavior Arthritis Autoimmune thrombocytopenia Behavioral abnormality Cognitive impairment Anemia Feeding difficulties Fever Ventricular septal defect Hypoplasia of the corpus callosum Hydrocephalus Atrial septal defect Abnormality of cardiovascular system morphology Unilateral renal agenesis Inflammation of the large intestine Obesity Nystagmus Ataxia Inguinal hernia Acne Posteriorly rotated ears Umbilical hernia Joint laxity Hydronephrosis Prominent nasal bridge Dyspnea Congenital hip dislocation Respiratory tract infection Anteverted nares Cataract Generalized muscle weakness Clinodactyly Convex nasal ridge Downslanted palpebral fissures Deep philtrum Short nose High, narrow palate Frontal bossing Prominent forehead Short philtrum Microretrognathia Finger syndactyly Toe syndactyly Bulbar palsy Abnormality of digit Spinal rigidity Congenital cataract Proptosis Long philtrum Midface retrusion Tachypnea Pectus excavatum Basal ganglia calcification Abnormality of the ear Abnormality of the foot Axonal loss Thick vermilion border Pierre-Robin sequence Delusions Parietal bossing Submucous cleft hard palate Bronchospasm Broad hallux Highly arched eyebrow Cutaneous finger syndactyly Hypoplasia of the brainstem Subvalvular aortic stenosis Obsessive-compulsive behavior Brachydactyly Chronic lung disease Recurrent lower respiratory tract infections Centrally nucleated skeletal muscle fibers Exercise intolerance Abnormal lung morphology Dysdiadochokinesis Facial palsy Rigidity Scaphocephaly Finger clinodactyly Stereotypy Apathy Broad nasal tip Myopathic facies Hepatosplenomegaly Mandibular prognathia Clinodactyly of the 5th finger Macrocephaly Wide nasal bridge Cor triatriatum Imperforate hymen 2-3 finger syndactyly Benign neoplasm of the central nervous system Duplication of phalanx of hallux Hamartoma of tongue Echolalia Common atrium Complete atrioventricular canal defect Short middle phalanx of finger Hypoplasia of the thymus Abnormality of the endocrine system Tracheomalacia Everted lower lip vermilion Cleft lip Abnormality of the kidney Epicanthus Type I truncus arteriosus Microtia Generalized tonic-clonic seizures Parathyroid agenesis Astigmatism Polymicrogyria Iris coloboma Parathyroid hypoplasia Decreased circulating parathyroid hormone level Exertional dyspnea Narrow mouth Accommodative esotropia Esophoria Interstitial pulmonary abnormality Short palpebral fissure Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Femoral hernia Amblyopia Exotropia Sclerocornea Tetany Telecanthus Microphthalmia Pulmonary artery atresia Abnormality of the skeletal system Hand polydactyly Cutaneous syndactyly Anterior segment developmental abnormality Postaxial hand polydactyly Platybasia Mood swings Bronchomalacia Postaxial polydactyly Polydactyly Paranoia Hallux valgus Giant platelets Velopharyngeal insufficiency Psychotic episodes Hypertonia Cryptorchidism Chronic bronchitis Central nervous system degeneration Vascular ring Perineal fistula Congenital conductive hearing impairment Agammaglobulinemia Short chin Unilateral lung agenesis Unilateral primary pulmonary dysgenesis Short columella Strabismus Decreased antibody level in blood Round face Respiratory distress Progressive vitiligo Holoprosencephaly Protruding ear Abnormality of the genital system Abnormal form of the vertebral bodies Renal hypoplasia Abnormality of the ribs Hypodontia Micromelia Hip dislocation Deeply set eye Hemivertebrae Malar flattening Acetylcholine receptor antibody positivity EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Short thumb Narrow palate Apneic episodes precipitated by illness, fatigue, stress Ectropion Absent toenail Synostosis of carpal bones Oligodactyly Congenital hypothyroidism Absent thumb Mixed hearing impairment Hypoplasia of the ulna Elbow dislocation Abnormality of dental enamel Radioulnar synostosis Systemic lupus erythematosus Hypoplasia of the radius Laryngomalacia Abnormality of the metacarpal bones Renal hypoplasia/aplasia Abnormal dermatoglyphics Choking episodes Nasal regurgitation Foot oligodactyly Ophthalmoplegia Diplopia Decreased fetal movement Cyanosis Waddling gait Esotropia Distal amyotrophy Long face Arthrogryposis multiplex congenita Easy fatigability Proximal muscle weakness Difficulty walking Kyphoscoliosis Hyporeflexia Areflexia Dysphagia Sensorineural hearing impairment EMG: myopathic abnormalities Dysphonia Sudden episodic apnea Distal lower limb muscle weakness Staring gaze EEG with polyspike wave complexes Central sleep apnea Spinal deformities Respiratory arrest Muscle fiber atrophy Motor polyneuropathy Limb-girdle muscle weakness Poor suck Obstructive sleep apnea Central hypotonia Neck muscle weakness Fatigable weakness Weak cry Toe walking Stridor Absent fingernail Bilateral renal hypoplasia Narrow palpebral fissure Abnormal hair quantity Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Rhabdomyosarcoma Malar prominence Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Dysgammaglobulinemia Mastoiditis Acute lymphoblastic leukemia Dysmetria Multicystic kidney dysplasia Hallucinations Open mouth Psychosis Peripheral demyelination Underdeveloped nasal alae Vesicoureteral reflux Pulmonic stenosis Muscular hypotonia Conductive hearing impairment Dementia Depressivity Hernia Absent speech Cerebellar atrophy Intellectual disability, severe Acute leukemia Neuroblastoma Crossed fused renal ectopia Intellectual disability, moderate Otitis media Prominent nose Lymphoma Neurodegeneration Cleft upper lip Leukemia Small for gestational age Abnormality of the nervous system Cutaneous photosensitivity Macrotia Respiratory failure Upslanted palpebral fissure Diarrhea Skeletal muscle atrophy Intrauterine growth retardation Synostosis of joints Sloping forehead Choanal atresia Abnormality of the musculature Low anterior hairline Freckling Long nose Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Cachexia Lymphopenia Abnormality of the face Abnormality of the hair Sinusitis Cafe-au-lait spot Telangiectasia Bronchiectasis Chronic diarrhea Recurrent urinary tract infections Intercostal retractions



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Single transverse palmar crease, related diseases and genetic alterations

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