Autoimmunity, and Hypodontia

Diseases related with Autoimmunity and Hypodontia

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


Top matches:

Medium 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

Medium 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

Low match AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA


AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as autosomal dominant anhidrotic ectodermal dysplasia|ad-hed

Related symptoms:

  • Abnormality of the dentition
  • Prominent forehead
  • Hypotrichosis
  • Abnormality of skin pigmentation
  • Thick vermilion border


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA

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Other less relevant matches:

Low match ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

Related symptoms:

  • Hyperhidrosis
  • Hyperkeratosis
  • Sparse hair
  • Short philtrum
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12

Low match NAIL AND TEETH ABNORMALITIES-MARGINAL PALMOPLANTAR KERATODERMA-ORAL HYPERPIGMENTATION SYNDROME


Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.

NAIL AND TEETH ABNORMALITIES-MARGINAL PALMOPLANTAR KERATODERMA-ORAL HYPERPIGMENTATION SYNDROME Is also known as ectodermal dysplasia-short stature syndrome|short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Dysphagia
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about NAIL AND TEETH ABNORMALITIES-MARGINAL PALMOPLANTAR KERATODERMA-ORAL HYPERPIGMENTATION SYNDROME

Low match NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME


Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.

NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME Is also known as ihsc|neonatal ichthyosis-sclerosing cholangitis syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|ichthyosis-sclerosing cholangitis syndrome|nisch syndrome

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Alopecia
  • Jaundice
  • Scarring


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME

Low match ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Fever
  • Recurrent respiratory infections
  • Hyperhidrosis
  • Respiratory tract infection


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B

Low match ODONTO-ONYCHO-DERMAL DYSPLASIA


Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.

ODONTO-ONYCHO-DERMAL DYSPLASIA Is also known as oodd

Related symptoms:

  • Intellectual disability
  • Hyperhidrosis
  • Photophobia
  • Erythema
  • Sparse hair


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ODONTO-ONYCHO-DERMAL DYSPLASIA

Low match OTODENTAL 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

Top 5 symptoms//phenotypes associated to Autoimmunity and Hypodontia

Symptoms // Phenotype % cases
Ectodermal dysplasia Uncommon - Between 30% and 50% cases
Hypotrichosis Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Hypohidrosis Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the dentition Dry skin Anodontia Agenesis of permanent teeth Orthokeratosis Nail dystrophy Sparse hair Sparse body hair Sparse and thin eyebrow Epidermal acanthosis Abnormality of dental enamel Thick vermilion border Hypoplasia of dental enamel Micrognathia

Rare Symptoms - Less than 30% cases


Anhidrotic ectodermal dysplasia Abnormality of dental morphology Frontal bossing Crossed fused renal ectopia Hyperkeratosis Intellectual disability Depressed nasal bridge Short stature Ptosis Anhidrosis Cataract Cleft palate Absent nipple Abnormal facial shape Anonychia Sparse scalp hair Hypohidrotic ectodermal dysplasia Fever Coloboma Respiratory tract infection Retinal coloboma Conical incisor Oligodontia Sensorineural hearing impairment Sparse eyelashes Jaundice Cholangitis Congenital hypothyroidism Hypothyroidism Abnormal dermatoglyphics Prominent forehead Sclerosing cholangitis Congenital hip dislocation Hyperbilirubinemia Scoliosis Protruding ear Short philtrum Diaphragmatic eventration Hypoplastic sweat glands Acne inversa Common atrium Arthritis Vertebral clefting Anorectal anomaly Epibulbar dermoid Recurrent ear infections Cellulitis Small face Osteomyelitis Periorbital edema Abnormality of the middle ear Recurrent aspiration pneumonia Recurrent streptococcus pneumoniae infections Prominent fingertip pads Dysphagia Asthma Biliary atresia Single ventricle Prominent eyelashes Liver abscess Premature loss of primary teeth Ureteropelvic junction obstruction Eczema Depressed nasal ridge Thin skin Anterior plagiocephaly Congenital mitral stenosis Abnormality of the fingernails Anoperineal fistula Bronchomalacia Trichorrhexis nodosa Abnormality of skin pigmentation Nocturnal lagophthalmos Vertical orbital dystopia Broad philtrum Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Natal tooth Premature thelarche Concave nasal ridge Subungual hyperkeratosis Malignant hyperthermia Erythroderma Hepatomegaly Anteverted nares Microcornea Delayed eruption of teeth Iris coloboma Long face Carious teeth Microphthalmia Long philtrum Abnormality of primary teeth Bilateral sensorineural hearing impairment Smooth tongue Palmoplantar hyperhidrosis Plantar hyperkeratosis Persistence of primary teeth Selective tooth agenesis Dry hair Hypergranulosis Full cheeks Gingival overgrowth Dystrophic toenail High-frequency sensorineural hearing impairment Abnormality of molar morphology Abnormality of canine Abnormality of the maxilla Otitis media with effusion Agenesis of premolar Lens coloboma Odontoma Pulp stones Progressive hearing impairment Macrodontia High-frequency hearing impairment Periodontitis Taurodontia Ankylosis Increased number of teeth Progressive sensorineural hearing impairment Dystrophic fingernails Blepharitis Splenomegaly Abnormality of blood and blood-forming tissues Absent hair Scarring alopecia of scalp Hypotrichosis of the scalp Thick hair Concave nail Alopecia of scalp Parakeratosis Scaling skin Recurrent respiratory infections Portal hypertension Acanthosis nigricans Cholestasis Hepatitis Ichthyosis Scarring Alopecia Acute hepatitis Everted lower lip vermilion Epiphora Photophobia Keratitis Reduced number of teeth Palmoplantar hyperkeratosis Neoplasm of the skin Fine hair Nail dysplasia Erythema Abnormal number of teeth Absent eyebrow Abnormality of the forehead Periorbital wrinkles Conical tooth Sparse lateral eyebrow Xerostomia Rhinitis Hypoplastic nipples Keratoconjunctivitis sicca Optic nerve coloboma Autoimmune hemolytic anemia Mitral stenosis Generalized hypotonia Cryptorchidism Muscular hypotonia Strabismus Failure to thrive Growth delay Microcephaly Global developmental delay High palate Seizures Synostosis of joints Bilateral renal hypoplasia Foot oligodactyly Absent fingernail Absent toenail Synostosis of carpal bones Anemia Feeding difficulties Abnormality of digit Kyphosis Depressivity Obesity Hernia Recurrent infections Dilatation Immunodeficiency Renal insufficiency Intellectual disability, mild Epicanthus Diarrhea Atrial septal defect Ventricular septal defect Abnormality of the skeletal system Myopia Wide nasal bridge Brachydactyly Oligodactyly Absent thumb Clinodactyly Retrognathia Micromelia Toe syndactyly Congenital cataract Hip dislocation Finger syndactyly Prominent nasal bridge Deeply set eye Proptosis Renal agenesis Syndactyly Malar flattening Short nose Downslanted palpebral fissures Low-set ears Nystagmus Hypertelorism High, narrow palate Convex nasal ridge Mixed hearing impairment Laryngomalacia Hypoplasia of the ulna Ectropion Elbow dislocation Radioulnar synostosis Systemic lupus erythematosus Deep philtrum Hypoplasia of the radius Abnormality of the metacarpal bones Abnormality of the ribs Renal hypoplasia/aplasia Narrow palate Hemivertebrae Short thumb Abnormality of the genital system Abnormal form of the vertebral bodies Renal hypoplasia Hypospadias Patent ductus arteriosus Short 5th finger Purpura Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Abnormality of the urinary system Horseshoe kidney Hydroureter Increased body weight Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Renal dysplasia Heterotopia Recurrent otitis media Preauricular pit Bundle branch block Blue sclerae Anal stenosis Depressed nasal tip Short columella Patellar dislocation Vitiligo Scaphocephaly Overweight Hashimoto thyroiditis Autoimmune thrombocytopenia Right bundle branch block IgA deficiency Thyroiditis Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Small nail Coarctation of aorta Visual loss Hydronephrosis Abnormality of the pinna Postnatal growth retardation Feeding difficulties in infancy Abnormality of the kidney Intellectual disability, moderate Joint laxity Anxiety Hypoglycemia Abnormal cardiac septum morphology Pes planus Macrotia Micropenis Posteriorly rotated ears Severe short stature Pneumonia Abnormal heart morphology Paralysis Congenital diaphragmatic hernia Single transverse palmar crease Microdontia Otitis media Growth hormone deficiency Decreased antibody level in blood Dental malocclusion Prominent nose Intestinal malrotation Highly arched eyebrow Malabsorption Hemolytic anemia Hirsutism Wide nose Polymicrogyria Joint hypermobility Astigmatism Anal atresia Abnormality of the dental pulp



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Hernia, related diseases and genetic alterations

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