Immunodeficiency, and Microdontia

Diseases related with Immunodeficiency and Microdontia

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

Top matches:

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. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Other less relevant matches:

Medium match TIMOTHY SYNDROME

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

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

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

Medium match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including immunodeficiency with hypohidrotic ectodermal dysplasia (OMIM ), together with osteopetrosis and lymphedema (OMIM ) in some patients, and immunodeficiency without ectodermal dysplasia (OMIM ). In contrast with patients with these other forms of X-linked recessive NEMO deficiency, who display a broad susceptibility to infections, infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause. Furthermore, IMD33 patients lack developmental features suggestive of hypohidrotic ectodermal dysplasia. Monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 (see {161561}) production, resulting in impaired IFNG (OMIM ) production. The prognosis of IMD33 patients is variable (review by Al-Muhsen and Casanova, 2008).

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY Is also known as atypical mycobacteriosis, familial, x-linked 1|x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency|immunodeficiency 33, mycobacteriosis, x-linked|amcbx1|x-linked msmd due to ikbkg deficiency|x-linked msmd due to nemo deficie

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Delayed eruption of teeth
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Top 5 symptoms//phenotypes associated to Immunodeficiency and Microdontia

Symptoms // Phenotype % cases
Recurrent infections Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormality of the dentition Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypodontia Global developmental delay Generalized hypotonia Respiratory tract infection Microcephaly Abnormal facial shape Ectodermal dysplasia Hypothyroidism Short stature Scoliosis Thin upper lip vermilion Failure to thrive Recurrent respiratory infections Hypertelorism Pneumonia Feeding difficulties Myopia Depressed nasal bridge Wide nasal bridge Osteopenia Syndactyly Eczema Sparse scalp hair Ventricular septal defect Intellectual disability, mild Hypohidrosis Sparse and thin eyebrow Muscular hypotonia Diarrhea Small for gestational age Conical tooth Bone marrow hypocellularity Patent ductus arteriosus Carious teeth Anemia Thrombocytopenia Malabsorption Heat intolerance Hypoplasia of the maxilla Abnormal heart morphology Frontal bossing Hydronephrosis Hearing impairment Growth hormone deficiency Cryptorchidism Toe syndactyly Hip dislocation Fever Abnormal cardiac septum morphology Hypoglycemia Prominent forehead Epicanthus Anal atresia

Rare Symptoms - Less than 30% cases

Recurrent bacterial infections Feeding difficulties in infancy Renal insufficiency Abnormality of the kidney Kyphosis Pancytopenia Postnatal growth retardation Narrow chest Intellectual disability, moderate Neutropenia Mitral stenosis Telecanthus Transposition of the great arteries Cleft palate Leukemia Inguinal hernia Micropenis Renal dysplasia Coloboma Congestive heart failure Nasolacrimal duct obstruction Constipation Depressivity Abnormality of cardiovascular system morphology Behavioral abnormality Joint hypermobility Depressed nasal tip Cognitive impairment Low-set ears Hydroureter Sinusitis Coarctation of aorta Abnormality of the urinary system Otitis media Decreased antibody level in blood Intestinal malrotation Single transverse palmar crease Ovoid vertebral bodies Intrauterine growth retardation Short neck Steatorrhea Horseshoe kidney Hand polydactyly Pes planus Autoimmunity Astigmatism Dry skin Abnormal form of the vertebral bodies Aplasia/Hypoplasia of the eyebrow Anhidrosis Heterotopia Brittle hair Sparse eyelashes Type I diabetes mellitus Thin skin Azoospermia Delayed eruption of teeth Sparse hair Fine hair Short nose Respiratory distress Hypertension Oligodontia Prominent nose Attention deficit hyperactivity disorder Anxiety Long philtrum Delayed speech and language development Spasticity Hypoplastic nipples Posteriorly rotated ears Micrognathia Brachydactyly Hypospadias Anhidrotic ectodermal dysplasia Periorbital wrinkles Hernia Hypohidrotic ectodermal dysplasia Clinodactyly Atrial septal defect Premature birth Abnormality of the skeletal system Strabismus Anodontia Ptosis Joint laxity Autoimmune thrombocytopenia IgA deficiency Thyroiditis Congenital hypothyroidism Bundle branch block Autoimmune hemolytic anemia Cerebellar vermis atrophy Celiac disease Subvalvular aortic stenosis Right bundle branch block Dentinogenesis imperfecta Severe hearing impairment Right ventricular cardiomyopathy Long palpebral fissure Cellular immunodeficiency Precocious atherosclerosis Anal stenosis Optic nerve coloboma Jaundice Trichorrhexis nodosa Severe short stature B-cell lymphoma Lymphoproliferative disorder Broad philtrum Visual loss Small face Cholangitis Villous atrophy Hashimoto thyroiditis Retinal coloboma Cerebral ischemia Short 5th finger Short columella Patellar dislocation Vitiligo Scaphocephaly Bilateral cryptorchidism Overweight Preauricular pit Mucopolysacchariduria Cupped ear Congenital diaphragmatic hernia Premature arteriosclerosis Cafe-au-lait spot Long eyelashes Recurrent otitis media Small nail Anterior pituitary dysgenesis Blue sclerae Nephrosclerosis Paralysis Moyamoya phenomenon Dental malocclusion High palate Highly arched eyebrow Hemolytic anemia Hirsutism Wide nose Lateral displacement of the femoral head Polymicrogyria Protruding ear Abnormality of the pinna Precocious puberty Purpura Failure to thrive in infancy Arteriosclerosis Hypoplasia of the capital femoral epiphysis Obesity Anterior plagiocephaly Poor suck Abnormal dermatoglyphics Multiple lentigines Hyperbilirubinemia Abnormal vertebral morphology Steroid-resistant nephrotic syndrome Shallow acetabular fossae Dilatation Macrotia Congenital hip dislocation Encephalomalacia Abnormal T cell morphology Increased body weight Abnormal immunoglobulin level Increased thyroid-stimulating hormone level High forehead Recurrent ear infections Slender finger Broad hallux phalanx Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Missing ribs Double outlet right ventricle Abnormal eyelash morphology Bipolar affective disorder Wheezing Natal tooth Partial agenesis of the corpus callosum Aplasia/Hypoplasia of the earlobes Atrioventricular canal defect Hypoplastic left heart Flat occiput Hammertoe Heart murmur Chorioretinal coloboma Ectropion Trigonocephaly Pyloric stenosis Schizophrenia Infantile muscular hypotonia Tachypnea Abnormal palate morphology Holoprosencephaly Nuclear cataract Labial hypoplasia Spina bifida Congenital thrombocytopenia Aplasia of the sweat glands Recurrent infection of the gastrointestinal tract Lymphocytosis Concave nasal ridge Agammaglobulinemia Leukocytosis Bronchiectasis Chronic diarrhea Arthritis Hepatosplenomegaly Osteopetrosis Lymphedema Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Bilateral camptodactyly Abnormal thrombocyte morphology Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Broad columella Multicystic kidney dysplasia Aortic valve stenosis Ureteropelvic junction obstruction Premature thelarche Downslanted palpebral fissures Optic atrophy Macrocephaly Flexion contracture Cataract Sensorineural hearing impairment Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Prominent eyelashes Ventriculomegaly Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Anorectal anomaly Common atrium Vertebral clefting Epibulbar dermoid Abnormality of the middle ear Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Talipes equinovarus Anteverted nares Leukodystrophy Dolichocephaly Short toe Short thumb Amblyopia Pachygyria Dehydration Webbed neck Postural instability Microcornea Iris coloboma Bruising susceptibility Tachycardia Smooth philtrum Talipes Facial asymmetry Neurological speech impairment Hydrocephalus Finger syndactyly Skin rash Craniosynostosis Camptodactyly Low-set, posteriorly rotated ears Retrognathia Thoracic kyphosis Hypogonadism Osteoporosis Agenesis of corpus callosum Clinodactyly of the 5th finger Pectus excavatum Cerebral atrophy Microphthalmia Disproportionate short-trunk short stature Vomiting Transient ischemic attack Enlargement of the costochondral junction Gastroesophageal reflux Autism Arrhythmia Encephalopathy Myopathy Dysphagia Irregular ossification at anterior rib ends Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Myocardial necrosis Proximal femoral metaphyseal irregularity Paroxysmal nocturnal hemoglobinuria Autistic behavior Persistence of hemoglobin F Metaphyseal sclerosis Anterior rib cupping Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Acute monocytic leukemia Recurrent viral infections Aplastic anemia Exocrine pancreatic insufficiency Acute myeloid leukemia Myeloid leukemia Multiple lipomas Hypertrophic cardiomyopathy Coma Neonatal respiratory distress Cutaneous syndactyly Cutaneous finger syndactyly Bronchitis Mixed hearing impairment Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Ventricular fibrillation Obsessive-compulsive behavior Patent foramen ovale Atrioventricular block Optic nerve hypoplasia Ventricular arrhythmia Ventricular tachycardia Sudden cardiac death Abnormality of dental enamel Hypocalcemia Cardiac arrest Bradycardia Hypoplasia of dental enamel Abnormality of the face Pulmonary arterial hypertension Cardiomegaly Tetralogy of Fallot Esotropia Round face Syncope Short thorax Metaphyseal widening Amelogenesis imperfecta Hyperhidrosis Agenesis of permanent teeth Absent eyebrow Prominent supraorbital ridges Dysphonia Short chin Hoarse voice Depressed nasal ridge Underdeveloped nasal alae Everted lower lip vermilion Thick vermilion border Short distal phalanx of finger Hypotrichosis Intellectual disability, severe Rhinitis Thin eyebrow Delayed ability to walk Myopathic facies Eosinophilia Narrow palpebral fissure Short palpebral fissure Hypsarrhythmia Asthma Unsteady gait Hypermetropia Narrow mouth Hyperactivity Sparse body hair Absent eyelashes Myelodysplasia Elevated hepatic transaminase Leukopenia Coxa vara Nephrocalcinosis Short ribs Decreased liver function Abnormality of the metaphysis Apraxia Specific learning disability Sepsis Generalized muscle weakness Ichthyosis Pectus carinatum Skeletal dysplasia Soft skin Delayed skeletal maturation Gait disturbance Hepatomegaly Neoplasm Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Everted upper lip vermilion Abnormal oral mucosa morphology Absent nipple Concave nail Anterior hypopituitarism Taurodontia Protruding tongue Hypothermia Abnormality of the vasculature Hyperlordosis Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Nephropathy Bulbous nose Abnormality of skin pigmentation Stage 5 chronic kidney disease Platyspondyly Corneal opacity Stroke Scarring Developmental regression Waddling gait Proteinuria Dementia Headache Cerebellar atrophy Cardiomyopathy Motor delay Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Dacryocystitis Lymphoma Decreased testicular size Ureterocele Epiphyseal dysplasia Protuberant abdomen Glomerulopathy Multiple cafe-au-lait spots Hypermelanotic macule Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Glomerulosclerosis Nephrotic syndrome Encephalitis Chronic kidney disease Coarse hair Reduced bone mineral density Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Lymphopenia Abnormality of epiphysis morphology Abnormal lung morphology Intellectual disability, profound Lumbar hyperlordosis Semilobar holoprosencephaly Nail pits Perimembranous ventricular septal defect Conductive hearing impairment Renal agenesis Nail dysplasia Vesicoureteral reflux Broad nasal tip Pulmonary hypoplasia Oral cleft Cleft upper lip Abnormality of the foot Short philtrum Microtia Blepharophimosis Cleft lip Photophobia Choanal atresia Hyperkeratosis Polydactyly Alopecia Malar flattening Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Oligohydramnios Split hand Abnormality of the nasopharynx Blue irides Duplicated collecting system Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Hypoplasia of the thymus Sparse pubic hair Rectovaginal fistula Dysuria Sparse axillary hair Generalized hypopigmentation Fair hair Bilateral cleft lip Omphalocele Split foot Blepharitis Xerostomia Ectrodactyly Hypopituitarism Absent septum pellucidum Epiphora Keratitis Preaxial polydactyly Abnormality of the genitourinary system Conjunctivitis Hypogonadotrophic hypogonadism Abnormality of the genital system Defective production of NFKB1-dependent cytokines


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