Low-set ears, and Rheumatoid arthritis
Diseases related with Low-set ears and Rheumatoid arthritis
In the following list you will find some of the most common rare diseases related to Low-set ears and Rheumatoid arthritis that can help you solving undiagnosed cases.
Top matches:
High match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF
cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLFHigh 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.
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; SPENCDIHigh 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
More info about DIGEORGE SYNDROME; DGS
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Other less relevant matches:
Medium 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
More info about VELOCARDIOFACIAL SYNDROME
Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE
Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.
MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf
Related symptoms:
- Hypertelorism
- Abnormal facial shape
- Low-set ears
- Motor delay
- Macrocephaly
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPEMedium match METATROPIC DYSPLASIA
Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.
METATROPIC DYSPLASIA Is also known as metatropic dwarfism
Related symptoms:
- Short stature
- Hearing impairment
- Scoliosis
- Cleft palate
- Cataract
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about METATROPIC DYSPLASIAMedium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Scoliosis
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONSMedium match MARSHALL SYNDROME
Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.
Related symptoms:
- Short stature
- Hearing impairment
- Hypertelorism
- Nystagmus
- Micrognathia
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about MARSHALL SYNDROMEMedium match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.
TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i
Related symptoms:
- Intellectual disability
- Short stature
- Generalized hypotonia
- Scoliosis
- Ataxia
More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
Medium match DIASTROPHIC DWARFISM
Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).
DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd
Related symptoms:
- Short stature
- Hearing impairment
- Scoliosis
- Growth delay
- Hypertelorism
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about DIASTROPHIC DWARFISMTop 5 symptoms//phenotypes associated to Low-set ears and Rheumatoid arthritis
| Symptoms // Phenotype | % cases |
|---|---|
| Short stature | Common - Between 50% and 80% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Cleft palate | Common - Between 50% and 80% cases |
| Osteoarthritis | Common - Between 50% and 80% cases |
| Scoliosis | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Low-set ears and Rheumatoid arthritis. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Abnormal facial shape Hearing impairment Global developmental delay Micromelia Platyspondyly Arthralgia Hypertelorism Micrognathia Short neck Juvenile rheumatoid arthritis Obesity Kyphoscoliosis Skeletal dysplasia Abnormal heart morphology Thrombocytopenia High palate Depressed nasal bridge Anemia Muscular hypotonia Arthritis Midface retrusion Generalized hypotonia Purpura Cerebral calcification Hemolytic anemia Low-set, posteriorly rotated ears Autoimmune thrombocytopenia Vitiligo Short finger Autoimmunity Autoimmune hemolytic anemia Genu valgum Kyphosis Malar flattening Flexion contracture Hydrocephalus Atrial septal defect Epiphyseal dysplasia Abnormality of cardiovascular system morphology Joint dislocation Inguinal hernia Abnormality of epiphysis morphology Bulbous nose Bifid uvula Cataract Seizures Frontal bossing Posteriorly rotated ears Macrocephaly Hypothyroidism Recurrent respiratory infections Abnormality of the skeletal system Recurrent infections Immunodeficiency Severe short stature
Rare Symptoms - Less than 30% cases
Seborrheic dermatitis Posterior embryotoxon Bipolar affective disorder Hypoparathyroidism Meningocele Truncus arteriosus Myelomeningocele Interrupted aortic arch Aplasia of the uterus Graves disease Perimembranous ventricular septal defect Right aortic arch Impaired T cell function Duodenal stenosis Retinal vascular tortuosity Conotruncal defect Inflammation of the large intestine Psoriasiform dermatitis Acne Amblyopia Renal agenesis Specific learning disability Amenorrhea Tetralogy of Fallot Low posterior hairline Primary amenorrhea Renal dysplasia Spina bifida Unilateral renal agenesis Hypocalcemia Bicuspid aortic valve Schizophrenia Arnold-Chiari malformation Nasal speech Cholelithiasis Arteria lusoria Aplasia of the thymus Pain Right aortic arch with mirror image branching Ataxia Irregular epiphyses Limb undergrowth Abnormality of the ribs Interphalangeal joint contracture of finger Abnormality of the metaphysis Abnormal form of the vertebral bodies Abnormal joint morphology Camptodactyly of finger Short long bone Hypoplastic cervical vertebrae Talipes Joint hyperflexibility Pes planus Short nose Anteverted nares Arthrogryposis multiplex congenita Joint stiffness Sacral meningocele Long philtrum Blepharophimosis Depressivity Congenital cataract Sparse scalp hair Hypotrichosis Pierre-Robin sequence Sparse hair Pectus carinatum Flat capital femoral epiphysis Hip dislocation Microtia Thin upper lip vermilion Enlarged joints Brachydactyly Respiratory insufficiency Epicanthus Chorea Talipes equinovarus Delayed speech and language development Recurrent otitis media Strabismus Behavioral abnormality Psychosis Spondylometaphyseal dysplasia Cognitive impairment Retrognathia Umbilical hernia Basal ganglia calcification Microcephaly Hypoplasia of the corpus callosum Intellectual disability, mild Abnormality of the pinna Metaphyseal irregularity Pneumonia Ventricular septal defect Irregular vertebral endplates Fever Hyperlordosis Patent ductus arteriosus Slender metacarpals Narrow femoral neck Proximal placement of thumb Posterior scalloping of vertebral bodies Spondylolisthesis Ulnar deviation of finger Hip contracture Abnormality of the patella Large joint dislocations Laryngotracheomalacia Abnormal bone ossification Laryngeal stenosis Abnormal sacrum morphology Overweight Inspiratory stridor Narrow vertebral interpedicular distance Slender proximal phalanx of finger Delayed patellar ossification Wide nasal bridge Elbow dislocation Proptosis Glaucoma Brachycephaly Hyperhidrosis Overfolded helix Abnormality of the dentition Myopia Visual impairment Streaky metaphyseal sclerosis Sensorineural hearing impairment Nystagmus Delayed phalangeal epiphyseal ossification Long proximal phalanx of finger Long distal phalanx of finger Slender distal phalanx of finger Caudal interpedicular narrowing Spinal cord compression Abnormal calcification of the carpal bones Abnormality of the clavicle Lethal skeletal dysplasia Thoracic dysplasia Congenital hip dislocation Soft skin Tracheomalacia Thoracic scoliosis Dislocated radial head Flared metaphysis Stridor Genu varum Glabellar hemangioma Nail dysplasia Delayed epiphyseal ossification Broad nasal tip Wide nose Laryngotracheal stenosis Costal cartilage calcification Joint laxity Osteoporosis Elevated serum creatine phosphokinase Cystic lesions of the pinnae Thoracolumbar scoliosis Generalized joint laxity Spinal dysraphism Hypoplasia of the capital femoral epiphysis Large earlobe Thoracolumbar kyphosis Enlarged thorax Broad distal phalanx of finger Symphalangism affecting the phalanges of the hand Flat face Ulnar deviation of the hand Carpal bone hypoplasia Visceral angiomatosis Upper airway obstruction Flattened epiphysis Neonatal short-limb short stature Spinal deformities Ulnar deviation of the wrist Small epiphyses Generalized osteoporosis Spondyloepimetaphyseal dysplasia Cervical kyphosis Hitchhiker thumb Hyperextensible skin Disproportionate short-limb short stature Retinal detachment Ivory epiphyses of the distal phalanges of the hand Abnormally low-pitched voice Coxa magna Accelerated bone age after puberty Chin with horizontal crease Smooth philtrum Cone-shaped epiphyses of the proximal phalanges of the hand Swelling of proximal interphalangeal joints Paraplegia Carious teeth Pear-shaped nose Spastic paraplegia Growth delay Cryptorchidism Intrauterine growth retardation Stroke Protruding ear Abnormality of the foot Osteopenia Full cheeks Cone-shaped epiphyses of the middle phalanges of the hand Thin nail Muscle weakness Fine hair Sparse lateral eyebrow Progressive spastic paraplegia Cone-shaped epiphysis Deep philtrum Short metatarsal Infantile muscular hypotonia Scapular winging Narrow palate Avascular necrosis of the capital femoral epiphysis Pseudohypoparathyroidism Slow-growing hair Spastic ataxia Concave nail Microdontia Dental malocclusion Thin eyebrow Short metacarpal Leukonychia Delayed eruption of teeth Hip dysplasia Hypogonadism Hypoplasia of the maxilla Sparse eyebrow Concave nasal ridge Hypoplastic ilia Thick upper lip vermilion Hypoplasia of the zygomatic bone Radial bowing Vitreoretinopathy Aplasia cutis congenita Thickened calvaria Ectopia lentis Ulnar bowing Sparse eyelashes Coxa valga Sparse and thin eyebrow Hypohidrosis Thick lower lip vermilion High myopia Otitis media Esotropia Ectodermal dysplasia Anhidrotic ectodermal dysplasia Lens luxation Alopecia Small distal femoral epiphysis Blue sclerae Bowing of the long bones Short phalanx of finger Increased bone mineral density Delayed skeletal maturation Dysarthria Hoarse voice Abnormality of the outer ear Meningeal calcification Absent frontal sinuses Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Calcification of falx cerebri Abnormal vitreous humor morphology Abnormality of the metacarpal bones Hypoplastic frontal sinuses Macrotia High forehead Absent primary metaphyseal spongiosa Short philtrum Short palpebral fissure Coarctation of aorta Abnormality of the skin High, narrow palate Iris coloboma Polymicrogyria Pancytopenia Astigmatism Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Exotropia Craniosynostosis Abnormality of the kidney Cleft lip Telecanthus Hydronephrosis Narrow mouth Incoordination Macrocytic anemia Megaloblastic anemia Broad thumb Sclerocornea Hypertonia Decreased circulating parathyroid hormone level Hypospadias Hernia Absent speech Cerebellar atrophy Intellectual disability, severe Aciduria Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Accommodative esotropia Tetany Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Femoral hernia Hypoplasia of the thymus Anterior segment developmental abnormality Microphthalmia Stomatitis Hyperactivity Recurrent bacterial infections Spasticity Scleroderma Hypermelanotic macule Restrictive ventilatory defect Combined immunodeficiency Spastic diplegia Nephritis Systemic lupus erythematosus Encephalitis Rhizomelia Cystathioninemia Abnormal lung morphology Lumbar hyperlordosis Spastic tetraplegia Hepatitis Diarrhea Tetraplegia Lymphadenopathy Abnormality of the cerebral white matter Respiratory tract infection Recurrent sinusitis Cystathioninuria Methylmalonic aciduria Decreased methionine synthase activity Homocystinuria Methylmalonic acidemia Ptosis Glossitis Hyperhomocystinemia Decreased methylcobalamin Neoplasm Megaloblastic bone marrow Decreased adenosylcobalamin Hypopigmented skin patches on arms Narrow nose Arthralgia/arthritis Metaphyseal sclerosis Progressive spastic quadriplegia Madelung deformity Decrease in T cell count Tubulointerstitial fibrosis Cellular immunodeficiency Immune dysregulation Barrel-shaped chest Dementia Conductive hearing impairment Hyperplasia of the femoral trochanters Clinodactyly of the 5th finger Multiple joint contractures Akinesia Short ribs Peripheral axonal neuropathy Confusion Narrow chest Failure to thrive Respiratory failure Prominent forehead Feeding difficulties Aplasia/Hypoplasia of the lungs Acidosis Multiple epiphyseal dysplasia Molar tooth sign on MRI Feeding difficulties in infancy Lymphedema Developmental regression Skin rash Brain atrophy Finger syndactyly Hypoplasia of the odontoid process Fetal akinesia sequence Agenesis of corpus callosum Anisospondyly Halberd-shaped pelvis Dumbbell-shaped metaphyses Long coccyx Abnormal metaphyseal vascular invasion Relatively short spine Snail-like ilia Flared humeral metaphysis Short diaphyses Flared femoral metaphysis Abnormal enchondral ossification Abnormal cortical bone morphology Cervical instability Severe platyspondyly Pseudoarthrosis Caudal appendage Abnormality of the intervertebral disk Long thorax Thoracic kyphoscoliosis Rough bone trabeculation Flared iliac wings Polyhydramnios Clinodactyly Anxiety Multicystic kidney dysplasia Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Obsessive-compulsive behavior Apathy Dysdiadochokinesis Abnormality of the hand Holoprosencephaly Narrow palpebral fissure Hallucinations Submucous cleft hard palate Open mouth Peripheral demyelination Underdeveloped nasal alae Vesicoureteral reflux Dysmetria Anal atresia Pulmonic stenosis Mental deterioration Aggressive behavior Axonal loss Anal stenosis Pectus excavatum Central nervous system degeneration Small for gestational age Lethargy Neutropenia Motor delay Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Psychotic episodes Hearing abnormality Velopharyngeal insufficiency Giant platelets Paranoia Mood swings Platybasia Pulmonary artery atresia Abnormality of the endocrine system Echolalia Delusions Hypertrophic auricular cartilage
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