Immunodeficiency, and Telecanthus

Diseases related with Immunodeficiency and Telecanthus

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

Top matches:

High match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 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

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Other less relevant matches:

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

High 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

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

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

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3 Is also known as woolly hair, autosomal recessive 3, with hypotrichosis

Related symptoms:

  • Intellectual disability
  • Diarrhea
  • Immunodeficiency
  • Hyperhidrosis
  • Rigidity


SOURCES: OMIM MENDELIAN

More info about WOOLLY HAIR, AUTOSOMAL RECESSIVE 3; ARWH3

Top 5 symptoms//phenotypes associated to Immunodeficiency and Telecanthus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections Low-set ears Hypothyroidism Ptosis Small for gestational age Micrognathia Cryptorchidism Strabismus Hearing impairment Wide nasal bridge Short stature Hydronephrosis Thrombocytopenia Inguinal hernia Short philtrum Seizures Cleft palate Patent ductus arteriosus Sparse hair Attention deficit hyperactivity disorder Hypoplasia of the thymus Bipolar affective disorder Microphthalmia Blepharophimosis Schizophrenia Abnormality of cardiovascular system morphology Behavioral abnormality Spina bifida Ventricular septal defect Growth delay Delayed speech and language development Epicanthus Generalized hypotonia Depressed nasal bridge Scoliosis Anteverted nares Hand polydactyly Talipes equinovarus Anal atresia Short neck Hydrocephalus Atrial septal defect Abnormality of the dentition

Rare Symptoms - Less than 30% cases

Coarctation of aorta Amblyopia Obesity Abnormal heart morphology Hypertonia Multicystic kidney dysplasia Narrow mouth Retrognathia Tetralogy of Fallot Craniosynostosis Umbilical hernia Specific learning disability Iris coloboma Arthritis Bulbous nose Autoimmunity Flexion contracture Meningocele Hypocalcemia High forehead Downslanted palpebral fissures Intellectual disability, mild Long philtrum Hypospadias Constipation Osteopenia Feeding difficulties in infancy Intrauterine growth retardation Prominent nasal bridge Long face Intestinal malrotation Hypopigmented skin patches Frontal bossing Brachydactyly Spasticity Optic atrophy Cataract Purpura Truncus arteriosus Nasal speech Cholelithiasis Acne Posterior embryotoxon Eczema Hypoparathyroidism Tetany Muscular hypotonia Seborrheic dermatitis Smooth philtrum Impaired T cell function Talipes Arteria lusoria Postnatal growth retardation Failure to thrive Nasolacrimal duct obstruction Anemia Abnormal thrombocyte morphology Renal agenesis Pancytopenia Sparse eyelashes Sparse and thin eyebrow Recurrent respiratory infections Psoriasiform dermatitis Choanal atresia Sparse scalp hair Microdontia Growth hormone deficiency Leukemia Vesicoureteral reflux Fever Toe syndactyly Carious teeth Microtia Cleft lip Conductive hearing impairment Malar flattening Syndactyly Lymphadenopathy Renal dysplasia Posteriorly rotated ears Upslanted palpebral fissure Clinodactyly of the 5th finger Neurological speech impairment Muscular hypotonia of the trunk Facial asymmetry Narrow chest Dolichocephaly Hip dislocation Finger syndactyly Multiple suture craniosynostosis Skin rash Synophrys Abnormal cardiac septum morphology Coloboma Tricuspid atresia Thick eyebrow Prominent nose Pes cavus Tachycardia Low-set, posteriorly rotated ears Premature birth Dehydration Elevated serum creatine phosphokinase Otitis media Platybasia Webbed neck Arrhinencephaly Decreased antibody level in blood Postural instability Bruising susceptibility Abnormal pulmonary valve morphology Anorectal anomaly Microcornea Retinal arteriolar tortuosity Single transverse palmar crease Hypertensive crisis Abnormal aortic arch morphology Camptodactyly Palmoplantar keratoderma Abnormality of the tonsils Rigidity Diarrhea Hyperhidrosis Hypogonadism Osteoporosis Prominent forehead Agenesis of corpus callosum Ventriculomegaly Achilles tendon contracture Clinodactyly Pectus excavatum Hypotrichosis Hernia Fine hair Cerebral atrophy Short nose Chronic diarrhea Pes planus Congestive heart failure Hypotelorism Occipital myelomeningocele Hypoglycemia Underdeveloped nasal alae Woolly hair Esotropia Sensorineural hearing impairment Curly hair Broad-based gait Thick upper lip vermilion Progressive microcephaly Feeding difficulties Narrow face Short chin Brisk reflexes Thin upper lip vermilion Macrocephaly Intellectual disability, moderate Abnormality of the anus Myopathy Bilateral camptodactyly Missing ribs Double outlet right ventricle Abnormal eyelash morphology Wheezing Transposition of the great arteries Natal tooth Slender finger Congenital thrombocytopenia Retinal dysplasia Megakaryocyte dysplasia Partial agenesis of the corpus callosum Abnormality of the curvature of the vertebral column Ataxia Visual impairment Blindness Atrioventricular canal defect Small earlobe Diastasis recti Chronic constipation Hypoplastic left heart Broad columella Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Labial hypoplasia Eyelid coloboma Aplasia/Hypoplasia of the earlobes Nuclear cataract Annular pancreas Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Internal hemorrhage Rod-cone dystrophy Scarring Intellectual disability, severe Anisopoikilocytosis Hypopigmentation of the skin Azoospermia Holoprosencephaly Profound global developmental delay Horseshoe kidney Spotty hypopigmentation Bone marrow hypocellularity Aortic valve stenosis Abnormal palate morphology Leukodystrophy Short toe Sinusitis Toe clinodactyly Short thumb Pachygyria Abnormal form of the vertebral bodies Dysarthria Short distal phalanx of finger Proptosis Aplasia/Hypoplasia of the eyebrow Flat occiput Nyctalopia Highly arched eyebrow Progressive visual loss Apraxia Cerebellar vermis hypoplasia Recurrent urinary tract infections Oculomotor apraxia Cone/cone-rod dystrophy Hammertoe Tachypnea Molar tooth sign on MRI Heart murmur Chorioretinal coloboma Severe short stature Ectropion Trigonocephaly Pyloric stenosis Infantile muscular hypotonia Hyperreflexia Sacral meningocele Abnormality of the pharynx Hypopituitarism Blue irides Depressed nasal tip Bilateral cleft lip Split foot Blepharitis Xerostomia Hypoplastic nipples Ectrodactyly Absent septum pellucidum Anodontia Hydroureter Epiphora Keratitis Preaxial polydactyly Abnormality of the urinary system Abnormality of the genitourinary system Oligodontia Conjunctivitis Fair hair Generalized hypopigmentation Hypohidrosis Abnormality of the nasopharynx Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Dacryocystitis Semilobar holoprosencephaly Ureterocele Nail pits Duplicated collecting system Sparse axillary hair Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Sparse pubic hair Rectovaginal fistula Dysuria Heat intolerance Hypogonadotrophic hypogonadism Abnormality of the genital system Neoplasm Type II diabetes mellitus Biparietal narrowing Telangiectasia of the skin Combined immunodeficiency Leukocytosis Myelodysplasia Low anterior hairline Telangiectasia Cutaneous photosensitivity Hypoplasia of penis Acute leukemia Lymphoma Thin vermilion border Malabsorption Erythema Abnormality of the nervous system Brachycephaly Abnormality of the skeletal system Hepatomegaly Severe combined immunodeficiency Abnormality of chromosome stability Omphalocele Pulmonary hypoplasia Thin skin Split hand Oligohydramnios Nail dysplasia Ectodermal dysplasia Broad nasal tip Hypodontia Hypoplasia of the maxilla Oral cleft Abnormality of bone marrow cell morphology Cleft upper lip Abnormality of the foot Photophobia Micropenis Hyperkeratosis Polydactyly Alopecia Large beaked nose Bird-like facies Slow-growing scalp hair Cognitive impairment Abnormal aortic valve morphology Polyhydramnios Renal hypoplasia Gastrointestinal hemorrhage Asthma Arachnodactyly Joint hyperflexibility Anxiety Myalgia Gastroesophageal reflux Autism Abnormality of dental enamel Glaucoma Depressivity Splenomegaly Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Aganglionic megacolon Laryngomalacia Right aortic arch with mirror image branching Patellar dislocation Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormal eyelid morphology Abnormality of the skull Multiple renal cysts Turricephaly Polycystic kidney dysplasia Abnormal lung lobation Foot polydactyly Hyperthyroidism Bowel incontinence Dysphasia Chronic otitis media Overfolded helix Abnormality of the thorax Esophoria Aplasia of the thymus High palate Chorea Arnold-Chiari malformation Bicuspid aortic valve Exotropia Broad thumb Primary amenorrhea Short palpebral fissure Low posterior hairline Amenorrhea Bifid uvula Unilateral renal agenesis High, narrow palate Hemolytic anemia Polymicrogyria Astigmatism Generalized tonic-clonic seizures Abnormality of the pinna Abnormality of the kidney Hypoplasia of the corpus callosum Rheumatoid arthritis Inflammation of the large intestine Conotruncal defect Femoral hernia Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Right aortic arch Alcoholism Perimembranous ventricular septal defect Autoimmune hemolytic anemia Interrupted aortic arch Graves disease Aplasia of the uterus Anterior segment developmental abnormality Juvenile rheumatoid arthritis Myelomeningocele Sclerocornea Vitiligo Autoimmune thrombocytopenia Trichorrhexis nodosa


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