Autoimmunity, and Microdontia

Diseases related with Autoimmunity and Microdontia

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


Top matches:

Low match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

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Other less relevant matches:

Low match TOOTH AGENESIS, SELECTIVE, 3; STHAG3


TOOTH AGENESIS, SELECTIVE, 3; STHAG3 Is also known as hypodontia/oligodontia 3

Related symptoms:

  • Microdontia
  • Oligodontia


SOURCES: MESH OMIM MENDELIAN

More info about TOOTH AGENESIS, SELECTIVE, 3; STHAG3

Low match OLIGODONTIA


Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.

OLIGODONTIA Is also known as selective tooth agenesis

Related symptoms:

  • Micrognathia
  • Hypoplasia of the maxilla
  • Microdontia
  • Abnormality of the face
  • Oligodontia


SOURCES: ORPHANET MENDELIAN

More info about OLIGODONTIA

Low match AMELOGENESIS IMPERFECTA, TYPE IA; AI1A


Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see Witkop, 1989).

AMELOGENESIS IMPERFECTA, TYPE IA; AI1A Is also known as amelogenesis imperfecta, hypoplastic type ia

Related symptoms:

  • Pain
  • Abnormality of the dentition
  • Hypoplasia of dental enamel
  • Amelogenesis imperfecta
  • Taurodontia


SOURCES: MESH OMIM MENDELIAN

More info about AMELOGENESIS IMPERFECTA, TYPE IA; AI1A

Low match HYPOMATURATION-HYPOPLASTIC AMELOGENESIS IMPERFECTA WITH TAURODONTISM


Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988).

HYPOMATURATION-HYPOPLASTIC AMELOGENESIS IMPERFECTA WITH TAURODONTISM Is also known as amelogenesis imperfecta, hypomaturation type, with snow-capped teeth|aih1|enamel hypoplasia, x-linked|amelogenesis imperfecta, x-linked 1|amelogenesis imperfecta type 4|amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Confusion
  • Microdontia
  • Hypoplasia of dental enamel
  • Amelogenesis imperfecta


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOMATURATION-HYPOPLASTIC AMELOGENESIS IMPERFECTA WITH TAURODONTISM

Low match TOOTH AGENESIS, SELECTIVE, 8; STHAG8


Related symptoms:

  • Sparse hair
  • Dry skin
  • Microdontia
  • Oligodontia
  • Sparse eyebrow


SOURCES: OMIM MENDELIAN

More info about TOOTH AGENESIS, SELECTIVE, 8; STHAG8

Low match DENTIN DYSPLASIA TYPE I


Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.

DENTIN DYSPLASIA TYPE I Is also known as dtdp1|dentin dysplasia, shields type i|dd-i|rootless teeth|radicular dentin dysplasia

Related symptoms:

  • Carious teeth
  • Delayed eruption of teeth
  • Microdontia
  • Increased bone mineral density
  • Oligodontia


SOURCES: ORPHANET OMIM MENDELIAN

More info about DENTIN DYSPLASIA TYPE I

Low match TOOTH AGENESIS, SELECTIVE, 9; STHAG9


Related symptoms:

  • Pruritus
  • Microdontia
  • Reduced number of teeth
  • Taurodontia
  • Slow-growing hair


SOURCES: OMIM MENDELIAN

More info about TOOTH AGENESIS, SELECTIVE, 9; STHAG9

Top 5 symptoms//phenotypes associated to Autoimmunity and Microdontia

Symptoms // Phenotype % cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
Oligodontia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Taurodontia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Micrognathia

Rare Symptoms - Less than 30% cases


Malabsorption Seizures Amelogenesis imperfecta Hypoplasia of dental enamel Hypermelanotic macule Agenesis of permanent teeth Mitral stenosis Intellectual disability Heterotopia Growth delay Abnormality of the kidney Abnormal facial shape Anemia Anterior open bite Diarrhea Kyphosis Renal insufficiency Immunodeficiency Pneumonia Astigmatism Myopia Hypothyroidism Selective tooth agenesis Blue sclerae Pain Dilatation Hernia Pes planus Scarring Carious teeth Joint hypermobility Joint laxity Fine hair Coarctation of aorta Cafe-au-lait spot Wide nasal bridge Long eyelashes Renal dysplasia Recurrent otitis media Small nail Congenital diaphragmatic hernia Sparse and thin eyebrow Otitis media Growth hormone deficiency Decreased antibody level in blood Dental malocclusion Prominent nose Intestinal malrotation Abnormal vertebral morphology Increased body weight Abnormality of the skeletal system Failure to thrive in infancy Hydroureter Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Poor suck Congenital hip dislocation Epicanthus Abnormality of the urinary system Abnormal dermatoglyphics Purpura Hyperbilirubinemia Horseshoe kidney Brachydactyly Hypodontia Single transverse palmar crease Obesity Severe short stature Hypoglycemia Jaundice Macrotia Micropenis Posteriorly rotated ears Slow-growing hair Abnormal heart morphology Anxiety Visual loss Patent ductus arteriosus Clinodactyly Hypospadias Depressivity Intellectual disability, mild Hydronephrosis Intellectual disability, moderate Highly arched eyebrow Atrial septal defect Hemolytic anemia Hirsutism Wide nose Right bundle branch block Polymicrogyria Ventricular septal defect Anal atresia Feeding difficulties in infancy Abnormal cardiac septum morphology Coloboma Paralysis Protruding ear Respiratory tract infection Abnormality of the pinna Postnatal growth retardation Bundle branch block Cerebellar vermis atrophy Celiac disease Crossed fused renal ectopia Premature thelarche Prominent eyelashes Pulp stones Liver abscess Sclerosing cholangitis Single ventricle Anorectal anomaly Short nasal septum Common atrium Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Recurrent aspiration pneumonia Prominent fingertip pads Eversion of lateral third of lower eyelids Pilonidal sinus Biliary atresia Increased bone mineral density Dry skin Sparse hair Delayed eruption of teeth Confusion Abnormality of metabolism/homeostasis Generalized microdontia Open bite Vertical orbital dystopia Abnormality of dental morphology Abnormality of the face Hypoplasia of the maxilla Generalized osteosclerosis Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Dentinogenesis imperfecta limited to primary teeth No permanent dentition Long palpebral fissure IgA deficiency Vitiligo Scaphocephaly Overweight Hashimoto thyroiditis Anal stenosis Autoimmune thrombocytopenia Pruritus Short columella Reduced number of teeth Thyroiditis Congenital hypothyroidism Autoimmune hemolytic anemia Sparse eyebrow Transposition of the great arteries Severe hearing impairment Patellar dislocation High palate Bronchomalacia Small face Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Cholangitis Depressed nasal tip Periapical bone loss Optic nerve coloboma Short dental roots Obliteration of the pulp chamber Double tooth Retinal coloboma Short 5th finger Feeding difficulties Encephalomalacia Ptosis Atrophy of alveolar ridges Fever Hypertension Motor delay Depressed nasal bridge Cognitive impairment Alveolar bone loss around teeth Severe periodontitis Short neck Intestinal perforation Gingival recession Premature loss of permanent teeth Palmoplantar cutis laxa Cigarette-paper scars Poor wound healing Premature loss of primary teeth Intrauterine growth retardation Cardiomyopathy Generalized joint laxity Developmental regression Stage 5 chronic kidney disease Platyspondyly Hip dislocation Corneal opacity Stroke Hyperlordosis Proteinuria Cerebellar atrophy Thin upper lip vermilion Osteopenia Dementia Thrombocytopenia Headache Congestive heart failure Vomiting Chronic pain Periodontitis Bulbous nose Erythema Mitral regurgitation Thin skin Osteoarthritis Bruising susceptibility Arachnodactyly Joint hyperflexibility Arthritis Gingival overgrowth Umbilical hernia Arthralgia Osteoporosis Inguinal hernia Edema Flexion contracture Neoplasm Tall stature Hoarse voice Gingivitis Skin vesicle Soft skin Subarachnoid hemorrhage Gingival bleeding Premature loss of teeth Striae distensae Abnormal joint morphology Fragile skin Long nose Vasculitis Atrophic scars Urticaria Dermal atrophy Hyperextensible skin Cutis laxa Osteolysis Joint dislocation Abnormality of skin pigmentation Nephropathy Cryptorchidism Precocious atherosclerosis Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Cerebral ischemia Multiple lentigines Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Mucopolysacchariduria Steroid-resistant nephrotic syndrome Protuberant abdomen Global developmental delay Cleft palate Muscular hypotonia Strabismus Failure to thrive Microcephaly Hearing impairment Generalized hypotonia Lateral displacement of the femoral head Shallow acetabular fossae Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Increased thyroid-stimulating hormone level Abnormality of the vasculature Glomerulopathy Neutropenia Nephrotic syndrome Lymphopenia Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormal lung morphology Intellectual disability, profound Lumbar hyperlordosis Decreased testicular size Opacification of the corneal stroma Waddling gait Lymphoma Premature birth Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Bone marrow hypocellularity Atherosclerosis Multiple cafe-au-lait spots Nephritis Steatorrhea Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Glomerulonephritis Hyperlipidemia Epiphyseal dysplasia Glomerulosclerosis Encephalitis Chronic kidney disease Coarse hair Reduced bone mineral density Azoospermia Periorbital hyperpigmentation



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