Immunodeficiency, and Dandy-Walker malformation

Diseases related with Immunodeficiency and Dandy-Walker malformation

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

Top matches:

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

High match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

Other less relevant matches:

High match CHARGE SYNDROME

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.

ATAXIA-OCULOMOTOR APRAXIA TYPE 1 Is also known as aoa1|atld

Related symptoms:

  • Ataxia
  • Nystagmus
  • Neoplasm
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 1

Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY Is also known as scid due to dna-pkcs deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY

Medium match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients have a disease course consistent with early infantile epileptic encephalopathy (EIEE), whereas others have more well-controlled seizures and a protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ Is also known as epileptic encephalopathy, early infantile, 10|eiee10

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

Top 5 symptoms//phenotypes associated to Immunodeficiency and Dandy-Walker malformation

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Dandy-Walker malformation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Long philtrum Wide nasal bridge Optic atrophy Depressed nasal bridge Hypospadias Short stature Nystagmus Growth delay Cerebellar atrophy Prominent forehead Cerebellar vermis hypoplasia Hearing impairment Combined immunodeficiency Postnatal growth retardation Feeding difficulties in infancy Cerebellar hypoplasia Abnormality of the skeletal system Sensorineural hearing impairment Micrognathia Cryptorchidism Cleft palate Intrauterine growth retardation Epicanthus Midface retrusion Pneumonia Hypoplasia of the corpus callosum Downslanted palpebral fissures Ptosis Anteverted nares Ataxia Neoplasm Scoliosis Hydronephrosis Peripheral neuropathy Progressive microcephaly Motor delay Short neck Renal agenesis Micropenis Muscular hypotonia Feeding difficulties Decreased antibody level in blood Behavioral abnormality Abnormal cardiac septum morphology Absent speech Posteriorly rotated ears Cleft lip Hydrocephalus Pulmonic stenosis Patent ductus arteriosus

Rare Symptoms - Less than 30% cases

Webbed neck Narrow forehead Sepsis Tetralogy of Fallot Highly arched eyebrow Growth hormone deficiency Short chin Autism Respiratory failure Microtia Abnormal heart morphology Abnormality of cardiovascular system morphology Dilatation Syndactyly Gastroesophageal reflux Atrial septal defect Ventricular septal defect Frontal bossing Macrocephaly Brachydactyly Delayed speech and language development Umbilical hernia Aspiration Coloboma Facial asymmetry Prominent nasal bridge Cleft upper lip Gait ataxia Unilateral renal agenesis Hyporeflexia Anal atresia Iris coloboma High, narrow palate Lymphopenia Camptodactyly Inguinal hernia Thin upper lip vermilion Cortical gyral simplification Abnormality of immune system physiology Wide nose Double outlet right ventricle Severe global developmental delay Short nose Bifid scrotum Febrile seizures Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Hand polydactyly Mild microcephaly Abnormality of the thymus High forehead Failure to thrive Hemivertebrae Recurrent infections Cerebral cortical atrophy Malar flattening Clinodactyly Hernia Horseshoe kidney Preauricular skin tag Agenesis of corpus callosum Cataract Flexion contracture Recurrent respiratory infections Strabismus Upslanted palpebral fissure Brachycephaly Generalized myoclonic seizures Congestive heart failure Myopathy Cardiomyopathy Nephronophthisis Respiratory distress Gaze-evoked nystagmus Severe combined immunodeficiency Hyperreflexia Pachygyria Brain atrophy Deeply set eye Visual impairment CNS hypomyelination Severe vision loss Medial flaring of the eyebrow Recurrent lower respiratory tract infections High palate Increased sensitivity to ionizing radiation Hypometric saccades Impaired smooth pursuit Overlapping fingers Recurrent aphthous stomatitis Muscle weakness Spasticity Dysdiadochokinesis Bifid femur Oculomotor apraxia Interrupted aortic arch Abnormal palmar dermatoglyphics Abnormality of bone mineral density Abnormality of the adrenal glands Aortic arch aneurysm Bilateral choanal atresia Lop ear Abnormality of the cervical spine Narrow naris Arrhinencephaly Dimple chin Abnormality of female internal genitalia Abnormality of the inner ear Microphallus Lacrimation abnormality Abnormal aortic valve morphology Peripheral pulmonary artery stenosis Gonadotropin deficiency Anterior hypopituitarism Aplasia/Hypoplasia of the earlobes Aqueductal stenosis Labial hypoplasia Abnormality of tibia morphology Square face Aplasia/Hypoplasia of the thymus Telangiectasia Renal insufficiency Lower limb spasticity Frequent falls Apraxia Chorea Progressive cerebellar ataxia Abnormal cerebellum morphology Distal amyotrophy Dysmetria Abnormality of the nervous system Myoclonus Dystonia Unilateral facial palsy Gait disturbance Tremor Dysarthria Posterior choanal atresia Parachute mitral valve Hypoplasia of the semicircular canal Parathyroid hypoplasia Abnormal soft palate morphology Rod-cone dystrophy Hypoplasia of the cochlea Hand monodactyly Hypertonia Neurodevelopmental delay Acidosis Recurrent aspiration pneumonia Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Muscle flaccidity Abnormality of the cerebellar vermis Abnormality of the optic disc Decreased proportion of CD4-positive T cells Ureteral atresia Abnormality of the mandible Pontocerebellar atrophy Granulocytopenia Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Abnormal cortical gyration Aplasia/Hypoplasia of the macula Immunoglobulin IgG2 deficiency Hypoplasia of the pons Polyneuropathy Lacrimal duct stenosis Underdeveloped supraorbital ridges Ectopic kidney Cone-shaped epiphysis Short metatarsal Short metacarpal Arthritis Osteopenia Epileptic encephalopathy Hyperactivity Penile hypospadias Encephalopathy Intellectual disability, severe Skeletal muscle atrophy Tall stature Abnormality of the foot Autistic behavior Proptosis Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Chronic mucocutaneous candidiasis Fair hair Coarse facial features Neutropenia Left ventricular hypertrophy Heterotopia Open mouth Progressive neurologic deterioration Ventricular hypertrophy Hypotelorism Delayed myelination Triangular face Hypopigmentation of the skin Sleep disturbance Abnormality of retinal pigmentation Thick vermilion border Pulmonary hypoplasia Polymicrogyria Congenital cataract Dilated cardiomyopathy Joint stiffness Respiratory tract infection Muscular hypotonia of the trunk Hypertrophic cardiomyopathy EEG abnormality Decreased body weight Decreased liver function Renal tubular dysfunction Centrally nucleated skeletal muscle fibers Ocular albinism Depressed nasal tip Severe failure to thrive Aspiration pneumonia IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Renal tubular acidosis Bronchitis Increased body weight Macular atrophy Tics Albinism Congenital sensorineural hearing impairment Poor suck Adducted thumb Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Leukopenia Recurrent bacterial infections Hyposmia Attention deficit hyperactivity disorder Facial paralysis Increased mean platelet volume Skeletal dysplasia Glaucoma Alopecia Kyphosis Eversion of lateral third of lower eyelids Flared nostrils Intestinal lymphangiectasia Macrothrombocytopenia Total anomalous pulmonary venous return Sparse hair Anomalous pulmonary venous return Protein-losing enteropathy Retinal dysplasia Congenital nystagmus Abnormality of the periventricular white matter Abnormality of the sternum Pericardial effusion Overlapping toe Proximal placement of thumb Abnormality of the kidney Broad forehead Hypoalbuminemia Aortic valve stenosis Abnormality of the hip bone Congenital glaucoma Mesomelia Prominent occiput Hypoplastic left heart Abnormality of neuronal migration Abnormality of the hand Narrow palate Wormian bones Large fontanelles Neurological speech impairment Low posterior hairline Hypoplasia of penis Limb undergrowth Intestinal malrotation Bifid uvula Postural instability Oral cleft Toe syndactyly Finger syndactyly Sparse eyebrow Tented upper lip vermilion Narrow nasal bridge Hyperpigmentation of the skin Acute leukemia Multiple renal cysts Severe intrauterine growth retardation Acute lymphoblastic leukemia Nephroblastoma Limb-girdle muscular dystrophy Myelodysplasia Sarcoma Primary amenorrhea Rhabdomyosarcoma Intellectual disability, profound Ambiguous genitalia Oligohydramnios Amenorrhea Renal cyst Generalized tonic-clonic seizures Muscular dystrophy Leukemia Small for gestational age Short sternum Triangular mouth Widely spaced teeth Downturned corners of mouth Abnormal intestine morphology Lymphedema Exotropia Bilateral sensorineural hearing impairment Dental malocclusion Nevus Ascites Tapered finger Retinal detachment Bulbous nose Cerebral hypoplasia Smooth philtrum Synophrys Short philtrum Wide mouth Reduced visual acuity Thrombocytopenia Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Atrioventricular canal defect Posterior embryotoxon Retinal coloboma Torticollis Abnormality of the urinary system Laryngomalacia Reduced number of teeth Abnormality of vision Anosmia Abnormality of the outer ear Cutaneous syndactyly Cranial nerve paralysis Plagiocephaly Obsessive-compulsive behavior Holoprosencephaly Hypogonadotrophic hypogonadism Hypocalcemia Narrow face Short thumb Renal dysplasia Abnormality of the genital system Omphalocele Choanal atresia Overfolded helix Cupped ear Renal hypoplasia Esophageal atresia Duodenal atresia Eyelid coloboma Abnormally large globe Choanal stenosis Abnormal cranial nerve morphology Hypoplasia of the zygomatic bone Down-sloping shoulders Broad neck External ear malformation Anal stenosis Anophthalmia Absent radius Weak cry Broad palm Mixed hearing impairment External genital hypoplasia Vestibular dysfunction Hypoplasia of the ulna Mask-like facies Tracheoesophageal fistula Small nail Abnormality of the ribs Adrenal hypoplasia Complete atrioventricular canal defect Primum atrial septal defect Cerebellar malformation Humoral immunodeficiency Facial hemangioma Contractures of the large joints Posterior fossa cyst Abnormality of the fontanelles or cranial sutures Abnormal tricuspid valve morphology Lethal skeletal dysplasia Aplasia/Hypoplasia of the nipples Talipes equinovarus Abnormal mitral valve morphology Hypoplastic fingernail Mitral stenosis Communicating hydrocephalus Enlarged cisterna magna Ectopic anus Single umbilical artery Missing ribs Pierre-Robin sequence Dysphagia Respiratory insufficiency Vesicoureteral reflux Facial palsy Delayed eruption of teeth Talipes Delayed puberty Pectus carinatum Paralysis Abnormality of the pinna Abnormality of the eye Apnea Low-set, posteriorly rotated ears Conductive hearing impairment Blindness Photophobia Retrognathia Polyhydramnios Hypothyroidism Narrow mouth Hypogonadism Clinodactyly of the 5th finger Visual loss Microphthalmia Thin lower lip vermilion


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