Autoimmunity, and Talipes equinovarus

Diseases related with Autoimmunity and Talipes equinovarus

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


Top matches:

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

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 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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

Low match HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD


Humerofemoral hypoplasia with radiotibial ray deficiency is a severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present (Szenker-Ravi et al., 2018).

HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD Is also known as hfhrtrd

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Hernia
  • Congenital diaphragmatic hernia
  • Pterygium


SOURCES: OMIM MENDELIAN

More info about HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY; HHRRD

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59


Autosomal recessive spastic paraplegia type 59 is a very rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59 Is also known as spg59

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Talipes equinovarus
  • Spastic paraplegia
  • Abnormality of the cerebral white matter


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59

Low match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Low match GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY


Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

Low match SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1


Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Low match SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50


Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).

SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Is also known as cerebral palsy, spastic quadriplegic, 3, formerly|cpsq3, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50

Top 5 symptoms//phenotypes associated to Autoimmunity and Talipes equinovarus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Growth delay Strabismus Global developmental delay Hyperreflexia Intellectual disability, mild Abnormality of the cerebral white matter Arthritis Hernia Malar flattening Behavioral abnormality Depressed nasal bridge Microcephaly Cataract Nystagmus Pain Muscle weakness Hearing impairment Scoliosis

Rare Symptoms - Less than 30% cases


Respiratory failure Epicanthus Abnormality of the dentition Cerebellar atrophy Intellectual disability, severe Hydrocephalus Ventriculomegaly Frontal bossing Optic atrophy Skeletal muscle atrophy Brachydactyly Respiratory insufficiency Hypocalcemia Motor delay Spasticity Atrial septal defect Ataxia Delayed skeletal maturation Spastic paraplegia Agenesis of corpus callosum Small for gestational age Turricephaly Wide nasal bridge Splenomegaly Intrauterine growth retardation Spastic gait Constipation Patellar dislocation Low-set ears Telecanthus Abnormal facial shape Short philtrum Bowel incontinence Short stature Chronic otitis media Bulbous nose Asthma Hypopigmented skin patches Immunodeficiency Gliosis Abnormality of the foot Anxiety Failure to thrive Coarse facial features Osteopenia Mandibular prognathia Babinski sign Inguinal hernia Depressivity Recurrent infections Umbilical hernia Flexion contracture Respiratory tract infection Genu valgum Apnea Skeletal dysplasia Glaucoma Pectus carinatum Severe short stature Bowing of the legs Midface retrusion Kyphosis Disproportionate short stature Rhizomelia Platyspondyly Narrow chest Broad forehead Cleft palate Respiratory distress Gait disturbance Retinal degeneration Sensorineural hearing impairment Myopia Limb undergrowth Adducted thumb Hand polydactyly Overfolded helix Abnormality of the thorax Chronic obstructive pulmonary disease Nasal speech Cholelithiasis Polycystic kidney dysplasia Abnormality of the uterus Laryngomalacia Schizophrenia Purpura Abnormality of dental enamel Acne Atelectasis Dysphasia Aganglionic megacolon Truncus arteriosus Meningocele Abnormality of the skull Multiple renal cysts Progressive spasticity Hypoparathyroidism Bipolar affective disorder Abnormal eyelid morphology Abnormal lung lobation Varicose veins Posterior embryotoxon Foot polydactyly Hyperthyroidism Infantile muscular hypotonia Spina bifida Spinal muscular atrophy Choanal atresia Long philtrum Upslanted palpebral fissure Everted upper lip vermilion Patent ductus arteriosus Hypospadias Obesity Thrombocytopenia Abnormality of cardiovascular system morphology Microphthalmia Ventricular septal defect Narrow mouth Downslanted palpebral fissures Ptosis Cryptorchidism Pseudobulbar signs Micrognathia Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Autism Hypothyroidism Renal hypoplasia Arachnodactyly Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Intestinal malrotation Corneal neovascularization Vesicoureteral reflux Aspiration pneumonia Long face Anal atresia Polyhydramnios Joint hyperflexibility Carious teeth Facial hypotonia Prominent nasal bridge Attention deficit hyperactivity disorder Feeding difficulties in infancy Myalgia Conductive hearing impairment Gastroesophageal reflux Drooling Tetany Cerebral palsy Abnormality of metabolism/homeostasis Feeding difficulties Poor coordination Hepatocellular carcinoma Heterotopia Aciduria Bruising susceptibility Intellectual disability, moderate Carcinoma Acidosis Tremor Hyporeflexia Anisopoikilocytosis Spotty hypopigmentation Inspiratory stridor Profound global developmental delay Sparse and thin eyebrow Hypopigmentation of the skin Short distal phalanx of finger Talipes Diaphragmatic weakness Peripheral neuropathy Hyperhidrosis High forehead EMG: neuropathic changes Tachypnea Severe muscular hypotonia Progressive muscle weakness Decreased fetal movement Premature birth Axonal degeneration Weak cry Hypoventilation Recurrent lower respiratory tract infections Urinary incontinence Paralysis Degeneration of anterior horn cells Distal amyotrophy Diaphragmatic eventration Peripheral axonal neuropathy Diaphragmatic paralysis Lower limb muscle weakness Limb muscle weakness Camptodactyly of finger Distal muscle weakness Sparse hair Proptosis Intellectual disability, progressive Seborrheic dermatitis Small earlobe High palate Hypoplasia of the corpus callosum Abnormality of the pharynx Hypertonia Abnormal aortic valve morphology Absent speech Abnormal thrombocyte morphology Pneumonia Neonatal hypotonia Denervation of the diaphragm Wide mouth Paraplegia Hypoplasia of the thymus Inability to walk Tetraplegia Narrow forehead Spastic tetraplegia Aspiration Decreased nerve conduction velocity Platybasia Ventilator dependence with inability to wean Anteverted nares Abnormality of dental structure Anemia Limb hypertonia Lower limb hyperreflexia Clonus Lower limb spasticity Abnormal cerebellum morphology Nocturnal hypoventilation Pterygium Congenital diaphragmatic hernia Occipital myelomeningocele Peripheral axonal degeneration Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Progressive joint destruction Heart murmur Antineutrophil antibody positivity Poor suck Metaphyseal dysplasia Short finger Cortical gyral simplification Thoracic hypoplasia Abnormality of neuronal migration Metaphyseal irregularity Cone-shaped epiphysis Redundant skin Systemic lupus erythematosus Atrioventricular block Cardiorespiratory arrest Short long bone Lissencephaly Accelerated skeletal maturation Short ribs Short toe Short phalanx of finger Pachygyria Abnormality of the ribs Short metacarpal Heart block Cone-shaped epiphyses of the phalanges of the hand Posteriorly rotated ears Coronal cleft vertebrae Rhizomelic arm shortening Abnormality of the scapula Large posterior fontanelle Myocardial necrosis Long fibula Pulmonary hemorrhage Cupped ribs Third degree atrioventricular block Narrow greater sacrosciatic notches Porencephalic cyst Delayed epiphyseal ossification Metaphyseal cupping Metaphyseal chondrodysplasia Spondylometaphyseal dysplasia Flared iliac wings 11 pairs of ribs Myocarditis Hypoplastic iliac wing Flat acetabular roof Hyperphosphatemia Short palm Cerebellar hypoplasia Iliac crest serration Limitation of joint mobility Coxa vara Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormal lung morphology Osteoarthritis Lumbar hyperlordosis High myopia Waddling gait Retinal detachment Growth abnormality Pulmonary hypoplasia Flat face Paresthesia Micromelia Hip dislocation Hyperlordosis Polydactyly Congestive heart failure Hypertension Sleep apnea Genu varum Arrhythmia Limited elbow movement Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Myelopathy Back pain Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Vestibular dysfunction Spondyloepiphyseal dysplasia Cone-shaped metacarpal epiphyses Focal lissencephaly Abnormality of joint mobility Abnormality of the sternum Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Femoral bowing Abnormality of the helix Neurodevelopmental delay Open bite Flat occiput Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Reduced ejection fraction Spondylolisthesis Limb ataxia Cerebral dysmyelination Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Retinal thinning Craniofacial hyperostosis Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Hallucinations Gingival overgrowth Widened sacrosciatic notch Cerebral atrophy Corneal opacity Mental deterioration Hepatosplenomegaly Kyphoscoliosis Macrotia Gait ataxia Prominent forehead Recurrent respiratory infections Areflexia Myopathy Hypermetropia Abnormality of the skeletal system Macrocephaly Dysarthria Hepatomegaly Delayed speech and language development Cognitive impairment 11 thoracic vertebrae Horizontal inferior border of scapula Irregular tarsal bones Neurological speech impairment Dysmetria Amblyopia Peripheral demyelination Tall stature Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Hip dysplasia Confusion Otitis media Decreased antibody level in blood Dental malocclusion Delayed myelination Progressive cerebellar ataxia Macroglossia Neurodegeneration Highly arched eyebrow Thick eyebrow Wide nasal ridge



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Apnea, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more