Immunodeficiency, and Postaxial polydactyly

Diseases related with Immunodeficiency and Postaxial polydactyly

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

Top matches:

Medium match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Other less relevant matches:

Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3

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

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

Low match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM 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

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Related symptoms:

  • Respiratory distress
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 39; IMD39

Top 5 symptoms//phenotypes associated to Immunodeficiency and Postaxial polydactyly

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Polydactyly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Growth delay Hearing impairment Hypertelorism Cleft palate Decreased antibody level in blood Recurrent respiratory infections Global developmental delay Scoliosis Low-set ears Hypohidrosis Malar flattening Seizures Hand polydactyly Respiratory tract infection Syndactyly Oligohydramnios Microphthalmia Inguinal hernia Micropenis Conductive hearing impairment Renal agenesis Pulmonary hypoplasia Short nose Hyperhidrosis Hyperkeratosis Failure to thrive Ventriculomegaly

Rare Symptoms - Less than 30% cases

Absent eyelashes Hemivertebrae Recurrent bacterial infections Absent eyebrow Anophthalmia Conjunctivitis Abnormality of the urinary system Abnormal facial shape Short stature Alopecia Omphalocele Hypoplasia of the corpus callosum Unilateral renal agenesis Underdeveloped nasal alae Keratitis Cleft upper lip Anal atresia Finger syndactyly Renal dysplasia Choanal atresia Abnormality of the pinna Blepharophimosis Hernia Dilatation Epicanthus Severe short stature Respiratory distress Myopia Feeding difficulties Macrotia Muscular hypotonia Photophobia Specific learning disability Hydronephrosis Posteriorly rotated ears Anemia Erythema Talipes Strabismus Urethral atresia Ichthyosis Ectodermal dysplasia Nail dysplasia Corneal opacity Delayed skeletal maturation Cleft lip Intellectual disability, mild Abnormal cortical gyration Micrognathia Heat intolerance Cerebral cortical atrophy Blepharitis Ectrodactyly Wide nasal bridge Hydroureter Combined immunodeficiency Flat face Absent septum pellucidum Hypospadias Recurrent corneal erosions Diarrhea Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Postnatal growth retardation Decreased fertility in females Abnormality of chromosome stability Diabetes mellitus Protruding ear IgM deficiency Agenesis of maxillary lateral incisor Telecanthus Pneumonia Lymphadenopathy Short philtrum Recurrent upper respiratory tract infections Agammaglobulinemia Tapetoretinal degeneration Hypoplastic ischia Microtia Neoplasm Facial telangiectasia in butterfly midface distribution Cardiomyopathy Abnormality of the dentition Widely-spaced maxillary central incisors Skin rash Clinodactyly of the 5th finger Fever Abnormality of the nose Hypoplastic pelvis Leukemia Type II diabetes mellitus Sinusitis Cafe-au-lait spot Narrow face Telangiectasia Bronchiectasis Azoospermia Abnormality of the face Sacral dimple Reduced number of teeth Hypertrichosis Squamous cell carcinoma Cutaneous photosensitivity High pitched voice Pulmonary fibrosis Otitis media Chronic obstructive pulmonary disease Infertility Chronic lung disease Dolichocephaly Chromosome breakage Hypoplasia of the zygomatic bone Acute leukemia IgG deficiency Hodgkin lymphoma Abnormality of the skin Lymphoma IgA deficiency Acute myeloid leukemia Myeloid leukemia Telangiectasia of the skin Prominent nose Hypopigmented skin patches Language impairment Small for gestational age Anteverted nares Obesity Midface retrusion Behavioral abnormality Congestive heart failure Arnold-Chiari type I malformation Severe intrauterine growth retardation Atrial septal defect Respiratory insufficiency Short neck Multiple renal cysts Autism Missing ribs Macrocephaly Hydrocele testis Optic nerve coloboma Hypertension Motor delay Delayed speech and language development Cognitive impairment Ptosis Slow-growing scalp hair Hyperactivity Gastroesophageal reflux Transverse vaginal septum Congenital diaphragmatic hernia Pyloric stenosis Aortic regurgitation Microretrognathia Narrow palpebral fissure Pointed chin Long nose Short toe Psychosis Syringomyelia Renal cyst EEG abnormality Tapered finger Small hand Smooth philtrum Broad forehead Severe combined immunodeficiency Attention deficit hyperactivity disorder Coloboma Wide mouth Autistic behavior Deeply set eye Absence of Stensen duct Abnormal salivary gland morphology Chorioretinitis Microdontia Abnormality of the genitourinary system Oligodontia Sparse eyelashes Hypogonadotrophic hypogonadism Sparse and thin eyebrow Abnormality of the genital system Thin skin Split hand Sparse scalp hair Growth hormone deficiency Hypopituitarism Vesicoureteral reflux Broad nasal tip Hypodontia Bilateral ptosis Pulmonary artery atresia Hypoplasia of the maxilla Oral cleft Abnormality of the foot Toe syndactyly Carious teeth Epiphora Hypoplastic nipples Dacryocystitis Hypoplasia of the thymus Semilobar holoprosencephaly Ureterocele Nail pits Abnormality of the nasopharynx Duplicated collecting system Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Sparse pubic hair Xerostomia Rectovaginal fistula Dysuria Sparse axillary hair Generalized hypopigmentation Anodontia Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Split foot Preaxial polydactyly Bifid scrotum Unilateral chest hypoplasia Renal hypoplasia/aplasia Facial cleft Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Cutaneous finger syndactyly Cupped ear Clitoral hypertrophy Atresia of the external auditory canal Cutaneous syndactyly Foot polydactyly Dental crowding Encephalocele Renal hypoplasia Ambiguous genitalia Wide intermamillary distance Dental malocclusion Wide nose Abnormal heart morphology Anal stenosis Postaxial foot polydactyly Hydrocephalus Laryngeal stenosis Aplasia/Hypoplasia of the phalanges of the hand Laryngeal web Cryptophthalmos Cleft ala nasi Difficulty in tongue movements Abnormality of the nares Abnormality of the thymus Upper eyelid coloboma Abnormality of the anus Myelomeningocele Bilateral renal agenesis Subglottic stenosis Bilateral microphthalmos Gonadoblastoma Vaginal atresia Bicornuate uterus Calvarial skull defect Choanal stenosis Blindness Depressed nasal bridge Hypoplastic superior helix Hepatosplenomegaly Malabsorption Arthrogryposis multiplex congenita Abnormal cardiac septum morphology Abnormality of the liver Muscular hypotonia of the trunk Aggressive behavior Neonatal hypotonia Elevated hepatic transaminase Retrognathia Hepatic steatosis Polyhydramnios Thrombocytopenia Cerebral atrophy Vomiting Cerebellar atrophy Talipes equinovarus Hepatomegaly Generalized hypotonia Cirrhosis Abnormal bleeding High palate Loss of consciousness Type II transferrin isoform profile Abnormal T cell morphology Gastrointestinal inflammation Macrovesicular hepatic steatosis Micronodular cirrhosis Impaired T cell function Proximal tubulopathy Neurodevelopmental delay Inflammation of the large intestine Focal-onset seizure Abnormal intestine morphology Hyperbilirubinemia Lymphopenia Chronic diarrhea Cholestasis Pancytopenia Decreased fetal movement Hip dysplasia Morphological abnormality of the middle ear Lacrimal duct aplasia Ichthyosis follicularis Congenital ichthyosiform erythroderma Abnormal eyelid morphology Abnormal eyelash morphology Alopecia of scalp Parakeratosis Uveitis Submucous cleft hard palate Oligodactyly Atonic seizures Abnormality of the vertebral column Follicular hyperkeratosis Mixed hearing impairment Intestinal obstruction Erythroderma Psoriasiform dermatitis Scaling skin Urticaria Abnormality of the hand Plagiocephaly Corneal erosion Hypoplastic fingernail Abnormality of dental enamel Abnormality of temperature regulation Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormal nasolacrimal system morphology Olivopontocerebellar atrophy Subcortical cerebral atrophy Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Alopecia totalis Opacification of the corneal stroma Multicystic kidney dysplasia Midline nasal groove Flexion contracture Mental deterioration Umbilical hernia Dementia Agenesis of corpus callosum Cerebellar hypoplasia Kyphosis Intellectual disability, severe Frontal bossing Nystagmus Camptodactyly Abnormality of the umbilicus Aplasia/Hypoplasia of the sternum Malformed lacrimal duct Extension of hair growth on temples to lateral eyebrow Laryngeal atresia Abnormality of the small intestine Severe T-cell immunodeficiency Wide pubic symphysis Abnormality of the kidney Developmental regression Abnormality of the nail Brain atrophy Abnormality of the hair Abnormal vertebral morphology Hypoplasia of dental enamel Aganglionic megacolon Epidermal acanthosis Abnormality of the ribs Eczema Postaxial hand polydactyly Palmoplantar keratoderma Scarring Dry skin Astigmatism Hypotrichosis Platyspondyly Nail dystrophy Papule Hip dislocation Camptodactyly of finger Absent nasal bridge


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