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:
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
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
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:
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
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
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
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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