Autoimmunity, and Long face

Diseases related with Autoimmunity and Long face

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


Top matches:

Medium 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

Medium match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match OTODENTAL SYNDROME


Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

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Other less relevant matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C

Low match 15Q14 MICRODELETION SYNDROME


15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

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

Low match SECKEL SYNDROME 9; SCKL9


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Low match MENTAL RETARDATION, X-LINKED 97; MRX97


MENTAL RETARDATION, X-LINKED 97; MRX97 Is also known as mental retardation, x-linked 65|mrx65|mrxz

Related symptoms:

  • Intellectual disability
  • Delayed speech and language development
  • Motor delay
  • Prominent forehead
  • Macrotia


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 97; MRX97

Low match MENTAL RETARDATION, X-LINKED 101; MRX101


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 101; MRX101

Top 5 symptoms//phenotypes associated to Autoimmunity and Long face

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Long philtrum Low-set ears Short philtrum Micrognathia Microcephaly Abnormality of the dentition Delayed speech and language development Motor delay Convex nasal ridge Scoliosis Ventricular septal defect Immunodeficiency Prominent nasal bridge Strabismus Intellectual disability, moderate Polyhydramnios

Rare Symptoms - Less than 30% cases


Muscle fiber atrophy Inguinal hernia Upslanted palpebral fissure Broad-based gait Abnormal cardiac septum morphology Narrow face Achilles tendon contracture Smooth philtrum Microphthalmia Intrauterine growth retardation Bulbous nose Acne Cardiomyopathy Congestive heart failure Wide nasal bridge Asthma Hearing impairment Talipes equinovarus Hypertelorism Failure to thrive Abnormal facial shape Cleft palate Cataract Ptosis Synophrys Small for gestational age Telecanthus High palate Poor speech Macrotia Recurrent respiratory infections Pes cavus Gastroesophageal reflux Carious teeth Proximal muscle weakness Joint laxity Sensorineural hearing impairment Generalized hypotonia Esotropia Autism Decreased fetal movement Waddling gait Abnormality of dental enamel Nasal speech Laryngomalacia Posteriorly rotated ears Elevated serum creatine phosphokinase EMG: myopathic abnormalities Growth delay Protruding ear Progressive proximal muscle weakness Macroglossia Skeletal muscle hypertrophy Increased variability in muscle fiber diameter Difficulty climbing stairs Inability to walk Restrictive deficit on pulmonary function testing Left ventricular failure Difficulty running Lumbar hyperlordosis Limb-girdle muscular dystrophy Gowers sign Frequent falls Scapular winging Calf muscle hypertrophy Restrictive ventilatory defect Right ventricular hypertrophy Upper limb muscle weakness Respiratory insufficiency Unsteady gait Abnormality of molar morphology Hypertonia Myopathy Intellectual disability, severe Dysarthria Hyperreflexia Spasticity Abnormality of the dental pulp Abnormality of canine Postnatal growth retardation Abnormality of the maxilla Otitis media with effusion Agenesis of premolar Lens coloboma Odontoma High-frequency sensorineural hearing impairment Pulp stones Muscular hypotonia of the trunk Sparse hair Muscular dystrophy Muscle weakness Hyperlordosis Facial palsy Pneumonia Arrhythmia Tip-toe gait Skeletal muscle atrophy Flexion contracture Thick upper lip vermilion Blepharophimosis Brisk reflexes Short chin Progressive microcephaly Hypotelorism Eczema Underdeveloped nasal alae Prominent nose Thick eyebrow Neck flexor weakness Oral cleft Calf muscle pseudohypertrophy Tricuspid valve prolapse Ventriculomegaly Reversed usual vertebral column curves Quadricuspid aortic valve Bacterial endocarditis Mastoiditis Asthenia Endocarditis Hernia Supraventricular tachycardia Thromboembolism Striae distensae Abnormal heart valve morphology Disproportionate tall stature Aortic regurgitation Dental crowding Respiratory distress Respiratory failure Atrial fibrillation Scaphocephaly Absent speech Broad face Prominent forehead Pulmonary artery hypoplasia Chronic lung disease Recurrent lower respiratory tract infections Cortical gyral simplification Ambiguous genitalia Clitoral hypertrophy Multicystic kidney dysplasia Recurrent urinary tract infections Pachygyria Abnormal lung morphology Hypertrichosis Congenital diaphragmatic hernia Mitral regurgitation Mitral valve prolapse Muscle fiber necrosis Reduced muscle fiber alpha sarcoglycan High-frequency hearing impairment Low-set, posteriorly rotated ears Cleft lip Deeply set eye High forehead Kyphosis Absent muscle fiber gamma sarcoglycan Highly arched eyebrow EMG: myotonic discharges EMG: positive sharp waves EMG: myotonic runs Abnormal macrophage morphology Left ventricular systolic dysfunction Increased endomysial connective tissue Right ventricular dilatation Everted lower lip vermilion Narrow forehead Abnormality of the cardiovascular system Broad forehead Limb undergrowth Chest pain Small hand High, narrow palate Tachycardia Pulmonic stenosis Hypertrophic cardiomyopathy Pointed chin Thin upper lip vermilion Dyspnea Pectus excavatum Pain Everted upper lip vermilion Biparietal narrowing Tented upper lip vermilion Macrodontia Abnormal pulmonary valve morphology Retinal coloboma Acetylcholine receptor antibody positivity Short neck Downslanted palpebral fissures Optic atrophy Epicanthus Cryptorchidism Muscular hypotonia EMG: impaired neuromuscular transmission Behavioral abnormality Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes Apneic episodes precipitated by illness, fatigue, stress Nasal regurgitation Hydrocephalus Intellectual disability, mild Staring gaze Glaucoma Anxiety Arthritis Myalgia Conductive hearing impairment Umbilical hernia Hypothyroidism Narrow mouth Constipation Splenomegaly Patent ductus arteriosus Hypospadias Depressivity Obesity Thrombocytopenia Abnormality of cardiovascular system morphology Malar flattening Sudden episodic apnea EEG with polyspike wave complexes Pectus carinatum Diplopia Cyanosis Generalized muscle weakness Distal amyotrophy Ophthalmoplegia Arthrogryposis multiplex congenita Difficulty walking Microretrognathia Kyphoscoliosis Hyporeflexia Areflexia Dysphagia Feeding difficulties Nystagmus Ataxia Congenital hip dislocation Poor head control Central sleep apnea Neck muscle weakness Spinal deformities Respiratory arrest Motor polyneuropathy Distal lower limb muscle weakness Limb-girdle muscle weakness Obstructive sleep apnea Central hypotonia Fatigable weakness Easy fatigability Weak cry Spinal rigidity Bulbar palsy Toe walking Stridor Poor suck Dysphonia Feeding difficulties in infancy Attention deficit hyperactivity disorder Periodontitis Platybasia Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Impaired T cell function Arrhinencephaly Small earlobe Tricuspid atresia Abnormality of the pharynx Abnormal aortic valve morphology Abnormal thrombocyte morphology Seborrheic dermatitis Hypoplasia of the thymus Tetany Corneal neovascularization Multiple suture craniosynostosis Abnormality of the tonsils Chronic obstructive pulmonary disease Bilateral sensorineural hearing impairment Taurodontia Ankylosis Increased number of teeth Progressive sensorineural hearing impairment Progressive hearing impairment Gingival overgrowth Hypoplasia of dental enamel Ectodermal dysplasia Occipital myelomeningocele Full cheeks Hypodontia Microcornea Delayed eruption of teeth Iris coloboma Coloboma Anteverted nares Abnormality of the uterus Atelectasis Joint hyperflexibility Choanal atresia Polycystic kidney dysplasia Schizophrenia Hypopigmented skin patches Purpura Hypocalcemia Spina bifida Aganglionic megacolon Renal hypoplasia Hand polydactyly Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Intestinal malrotation Vesicoureteral reflux Arachnodactyly Anal atresia Cholelithiasis Abnormality of the thorax Varicose veins Turricephaly Abnormal eyelid morphology Truncus arteriosus Meningocele Abnormality of the skull Multiple renal cysts Patellar dislocation Hypoparathyroidism Bipolar affective disorder Overfolded helix Abnormal lung lobation Posterior embryotoxon Foot polydactyly Hyperthyroidism Bowel incontinence Dysphasia Chronic otitis media Hyperactivity



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