Autoimmunity, and Low-set, posteriorly rotated ears

Diseases related with Autoimmunity and Low-set, posteriorly rotated ears

In the following list you will find some of the most common rare diseases related to Autoimmunity and Low-set, posteriorly rotated ears that can help you solving undiagnosed cases.


Top matches:

Medium match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Low match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Low match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

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Other less relevant 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 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

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 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 COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low 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

Top 5 symptoms//phenotypes associated to Autoimmunity and Low-set, posteriorly rotated ears

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Hypothyroidism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Autoimmunity and Low-set, posteriorly rotated ears. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Short neck Abnormal facial shape Hearing impairment Hypertelorism Ptosis Immunodeficiency Delayed speech and language development Cataract High palate Downslanted palpebral fissures Micrognathia Ventricular septal defect Patent ductus arteriosus Hypocalcemia Nasal speech Generalized hypotonia Cognitive impairment Cleft palate Purpura Posteriorly rotated ears Recurrent infections Thrombocytopenia Arthritis Systemic lupus erythematosus Hydrocephalus Failure to thrive Autoimmune hemolytic anemia Hemolytic anemia Autoimmune thrombocytopenia Vitiligo Muscular hypotonia Posterior embryotoxon Juvenile rheumatoid arthritis Rheumatoid arthritis Truncus arteriosus Cholelithiasis Inguinal hernia Schizophrenia Spina bifida Seborrheic dermatitis Tetralogy of Fallot Acne Specific learning disability Bulbous nose Impaired T cell function Umbilical hernia Obesity Retrognathia Abnormality of cardiovascular system morphology Behavioral abnormality Microcephaly Narrow mouth Renal agenesis Short philtrum Meningocele Hypoparathyroidism Anemia Intellectual disability, mild Bipolar affective disorder Polyhydramnios Graves disease Macrocephaly Frontal bossing Abnormal heart morphology Low posterior hairline Diarrhea

Rare Symptoms - Less than 30% cases


Long face Tetany Epicanthus Congenital hip dislocation Relative macrocephaly Arteria lusoria Hypoplasia of the thymus Fever Hypoplasia of the corpus callosum Chronic diarrhea Conotruncal defect Proximal muscle weakness Poor suck Gastroesophageal reflux Retinal vascular tortuosity Abnormal lung morphology Hypospadias Motor delay Depressivity Leukemia Hepatitis Depressed nasal bridge Right aortic arch with mirror image branching Malar flattening Sacral meningocele Broad thumb Brachydactyly Congenital cataract Talipes equinovarus High, narrow palate Polymicrogyria Hand polydactyly Renal hypoplasia Prominent nasal bridge Hyperthyroidism Attention deficit hyperactivity disorder Abnormality of the kidney Abnormality of the uterus Abnormality of dental enamel Telecanthus Cryptorchidism Laryngomalacia Hypopigmented skin patches Microphthalmia Exotropia Strabismus Neoplasm Abnormality of the ribs Pulmonic stenosis Ataxia Aplasia of the thymus Nystagmus Arnold-Chiari malformation Metaphyseal irregularity Duodenal stenosis Primary amenorrhea Aplasia of the uterus Renal dysplasia Respiratory failure Rhizomelia Turricephaly Bicuspid aortic valve Micromelia Perimembranous ventricular septal defect Myelomeningocele Platyspondyly Splenomegaly Dysdiadochokinesis Psoriasiform dermatitis Kyphoscoliosis Unilateral renal agenesis Recurrent respiratory infections Autism Inflammation of the large intestine Proptosis Interrupted aortic arch Amenorrhea Conductive hearing impairment Anal atresia Abnormality of the pinna Spondylometaphyseal dysplasia Cellular immunodeficiency Right aortic arch Blepharophimosis Anxiety Bifid uvula Chorea Vesicoureteral reflux Basal ganglia calcification Asthma Platybasia Vascular tortuosity Short palpebral fissure Pain Abnormal aortic valve morphology Myopia Skeletal muscle atrophy Abnormality of the middle ear Muscle weakness Amblyopia Decreased circulating parathyroid hormone level Esophoria Perisylvian polymicrogyria Type I truncus arteriosus Parathyroid agenesis Sclerocornea Parathyroid hypoplasia Alcoholism Accommodative esotropia Femoral hernia Anterior segment developmental abnormality Abnormal thrombocyte morphology Corneal neovascularization Abnormality of the thymus Polycystic kidney dysplasia Coarctation of aorta Multiple suture craniosynostosis Anorectal anomaly Giant platelets Paranoia Retinal arteriolar tortuosity Mood swings Hypertensive crisis Abnormal aortic arch morphology Pulmonary artery atresia Abnormal pulmonary valve morphology Abnormality of the endocrine system Echolalia Tricuspid atresia Pierre-Robin sequence Delusions Hearing abnormality Abnormality of the tonsils Velopharyngeal insufficiency Arrhinencephaly Iris coloboma Small earlobe Abnormality of the pharynx Astigmatism Generalized tonic-clonic seizures Microtia Craniosynostosis Cleft lip Hydronephrosis Hypertonia Psychotic episodes Flexion contracture Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Myopathy Tremor Decreased antibody level in blood Kyphosis Varicocele Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Abnormal eyelid morphology Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Thyroid adenoma Multiple renal cysts Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Abnormality of the skull Trichilemmoma Cavernous hemangioma Glaucoma Abnormality of the thorax Choanal atresia Overfolded helix Chronic otitis media Dysphasia Gastrointestinal hemorrhage Intestinal malrotation Arachnodactyly Joint hyperflexibility Bowel incontinence Carious teeth Feeding difficulties in infancy Myalgia Foot polydactyly Dysplastic gangliocytoma of the cerebellum Upslanted palpebral fissure Constipation Long philtrum Abnormality of the dentition Optic atrophy Intrauterine growth retardation Abnormal lung lobation Wide nasal bridge Lobular carcinoma in situ Patellar dislocation Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Enlarged polycystic ovaries Long penis Headache Subcutaneous nodule Goiter Breast carcinoma Melanoma Increased intracranial pressure Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Lymphopenia Chronic obstructive pulmonary disease Gynecomastia Cafe-au-lait spot Telangiectasia Intention tremor Incoordination Overgrowth Aganglionic megacolon Lymphoma Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Joint hypermobility Nausea and vomiting Papule Intellectual disability, moderate Carcinoma Pectus excavatum Dilatation Palmoplantar hyperkeratosis Intracranial hemorrhage Bone cyst Lipoma Intestinal polyposis Ovarian cyst Astrocytoma Varicose veins Furrowed tongue Arteriovenous malformation Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Scaphocephaly Melanocytic nevus Hashimoto thyroiditis Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hamartoma Acute myeloid leukemia Atelectasis Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Multiple cafe-au-lait spots Foot oligodactyly Anal stenosis Pectus carinatum EMG: myopathic abnormalities Microretrognathia Diplopia Decreased fetal movement Cyanosis Waddling gait Esotropia Generalized muscle weakness Distal amyotrophy Ophthalmoplegia Arthrogryposis multiplex congenita Joint laxity Easy fatigability Difficulty walking Pes cavus Hyporeflexia Areflexia Dysphagia Feeding difficulties Sensorineural hearing impairment Hypopigmented skin patches on arms Arthralgia/arthritis Metaphyseal sclerosis Progressive spastic quadriplegia Madelung deformity Poor head control Dysphonia Tubulointerstitial fibrosis Spinal deformities 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 Sudden episodic apnea Staring gaze EEG with polyspike wave complexes Central sleep apnea Respiratory arrest Stridor Muscle fiber atrophy Motor polyneuropathy Distal lower limb muscle weakness Limb-girdle muscle weakness Obstructive sleep apnea Central hypotonia Neck muscle weakness Fatigable weakness Weak cry Spinal rigidity Bulbar palsy Toe walking Decrease in T cell count Immune dysregulation Acetylcholine receptor antibody positivity Edema Abnormality of the sternum Pleural effusion Hyperextensible skin Hyperpigmentation of the skin Left ventricular hypertrophy Ventricular hypertrophy Abnormality of the cardiovascular system Webbed neck Abnormal cardiac septum morphology Hypertrophic cardiomyopathy Hyperkeratosis Cardiomyopathy Acute lymphoblastic leukemia Interstitial pneumonitis Chronic lung disease Prominent occiput Abnormal intestine morphology Short chin Type I diabetes mellitus Malabsorption Dolichocephaly Camptodactyly Diabetes mellitus Clinodactyly Hepatomegaly Curly hair Chylothorax Barrel-shaped chest Lumbar hyperlordosis Narrow nose Irregular vertebral endplates Recurrent sinusitis Scleroderma Hypermelanotic macule Restrictive ventilatory defect Combined immunodeficiency Spastic diplegia Nephritis Encephalitis Recurrent bacterial infections Recurrent otitis media Spastic tetraplegia Palmoplantar cutis laxa Cerebral calcification Tetraplegia Lymphadenopathy Abnormality of the cerebral white matter Respiratory tract infection Hyperlordosis Arthralgia Skeletal dysplasia Severe short stature Pneumonia Abnormality of the skeletal system Spasticity EMG: impaired neuromuscular transmission Respiratory insufficiency Submucous cleft hard palate Hypoplasia of the radius Synostosis of carpal bones Oligodactyly Congenital hypothyroidism Abnormality of digit Absent thumb Mixed hearing impairment Hypoplasia of the ulna Ectropion Elbow dislocation Radioulnar synostosis Deep philtrum Abnormality of the metacarpal bones Absent fingernail Renal hypoplasia/aplasia Abnormal dermatoglyphics Narrow palate Hemivertebrae Short thumb Abnormality of the genital system Abnormal form of the vertebral bodies Convex nasal ridge Hypodontia Toe syndactyly Hip dislocation Finger syndactyly Absent toenail Bilateral renal hypoplasia Deeply set eye Open mouth Axonal loss Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Obsessive-compulsive behavior Apathy Abnormality of the hand Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Hallucinations Psychosis Crossed fused renal ectopia Peripheral demyelination Underdeveloped nasal alae Dysmetria Mental deterioration Aggressive behavior Hyperactivity Dementia Hernia Absent speech Cerebellar atrophy Intellectual disability, severe Synostosis of joints Protruding ear Prominent forehead Arrhythmia Lissencephaly Heart block Metaphyseal dysplasia Disproportionate short stature Short finger Cortical gyral simplification Thoracic hypoplasia Abnormality of neuronal migration Cone-shaped epiphysis Redundant skin Atrioventricular block Short long bone Accelerated skeletal maturation Cone-shaped epiphyses of the phalanges of the hand Short ribs Short toe Short phalanx of finger Pachygyria Limb undergrowth Short metacarpal Short palm Narrow chest Apnea Agenesis of corpus callosum Cerebellar hypoplasia Delayed skeletal maturation Cardiorespiratory arrest Delayed epiphyseal ossification Syndactyly Long fibula Short nose 11 thoracic vertebrae Horizontal inferior border of scapula Irregular tarsal bones Widened sacrosciatic notch Focal lissencephaly Iliac crest serration Cone-shaped metacarpal epiphyses Rhizomelic arm shortening Abnormality of the scapula Large posterior fontanelle Myocardial necrosis Pulmonary hemorrhage Hyperphosphatemia Cupped ribs Third degree atrioventricular block Narrow greater sacrosciatic notches Coronal cleft vertebrae Porencephalic cyst Metaphyseal cupping Metaphyseal chondrodysplasia Flared iliac wings 11 pairs of ribs Myocarditis Hypoplastic iliac wing Flat acetabular roof Occipital myelomeningocele



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