Immunodeficiency, and Craniosynostosis

Diseases related with Immunodeficiency and Craniosynostosis

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

Top matches:

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

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

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

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

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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Craniosynostosis

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections Scoliosis Strabismus Macrocephaly Depressed nasal bridge Downslanted palpebral fissures Facial asymmetry Short stature Abnormality of cardiovascular system morphology Micrognathia Ptosis Constipation Abnormality of the dentition Low-set ears Frontal bossing Ventricular septal defect Bipolar affective disorder Anal atresia Failure to thrive Cataract Muscular hypotonia Cryptorchidism Schizophrenia Epicanthus Spina bifida Hypothyroidism Decreased antibody level in blood Thrombocytopenia Hydrocephalus Atrial septal defect Behavioral abnormality Microphthalmia Microcephaly Hearing impairment Patent ductus arteriosus Lymphopenia Inguinal hernia Posteriorly rotated ears Narrow mouth Umbilical hernia Telecanthus Attention deficit hyperactivity disorder Short philtrum Optic atrophy Short neck Inflammatory abnormality of the skin Wide nasal bridge Autism Sinusitis Eczema Prominent nose Eosinophilia

Rare Symptoms - Less than 30% cases

Arthritis Retrognathia Clinodactyly of the 5th finger Hydronephrosis Anteverted nares Syndactyly Autoimmunity Intellectual disability, moderate Microtia Bulbous nose Polymicrogyria Proptosis Hip dislocation Finger syndactyly Agenesis of corpus callosum Ventriculomegaly Feeding difficulties Dermal translucency Postnatal growth retardation Growth delay Natal tooth Hernia Iris coloboma Absent speech Chorioretinal coloboma Abnormal form of the vertebral bodies Obesity Dolichocephaly Abnormal heart morphology Abnormal thrombocyte morphology Talipes equinovarus Specific learning disability Impaired T cell function Hypoparathyroidism Meningocele Truncus arteriosus Tetany Seborrheic dermatitis Glaucoma Abnormality of the thymus Feeding difficulties in infancy Arteria lusoria Upslanted palpebral fissure Hypospadias Long philtrum Splenomegaly Intrauterine growth retardation Posterior embryotoxon Carious teeth Tetralogy of Fallot Varicose veins Intellectual disability, mild Coarctation of aorta Short palpebral fissure Amblyopia Hypocalcemia Purpura Nasal speech Long face Cholelithiasis Hand polydactyly Psoriasiform dermatitis Acne Abnormality of dental enamel Intestinal malrotation Hypoplasia of the thymus Abnormal lung lobation Fever Skeletal dysplasia Osteoporosis Osteopenia Skin rash Single transverse palmar crease Muscular hypotonia of the trunk Asthma Kyphoscoliosis Chronic otitis media Pectus excavatum Otitis media Kyphosis Brachydactyly Motor delay Nystagmus Prominent forehead Coarse facial features Delayed speech and language development Flexion contracture Neoplasm High palate Cleft palate Hemihypertrophy Pneumonia Severe combined immunodeficiency Portal vein thrombosis Epidermal nevus Retinal hamartoma Thymus hyperplasia Nevus sebaceous Periorbital fullness Facial hyperostosis Abnormality of the skeletal system Metatarsus valgus Midface retrusion Broad eyebrow Calvarial hyperostosis Speech apraxia Dysphagia Sirenomelia Macrodactyly Narrow internal auditory canal Developmental regression Bronchogenic cyst Severe global developmental delay Apraxia Pulmonary artery stenosis Myopathic facies Leukopenia Wormian bones Spastic tetraplegia Narrow forehead Tetraplegia Hirsutism Mandibular prognathia Retinal nonattachment Pointed chin Testicular neoplasm Mandibular hyperostosis Hypertrophy of skin of soles Depigmentation/hyperpigmentation of skin Connective tissue nevi Central heterochromia Neoplasm of the thymus Abnormal subcutaneous fat tissue distribution Lymphangioma Generalized hyperkeratosis Upper limb asymmetry Generalized hyperpigmentation Spinal cord compression Capillary hemangioma Papilledema Exostoses Lipoma Neoplasm of the lung Irregular hyperpigmentation Spinal canal stenosis Pulmonary embolism Ovarian neoplasm Abnormality of the wrist Hamartoma Multiple cafe-au-lait spots Multiple lipomas Neurofibromas Pericardial effusion Disproportionate tall stature Hallux valgus Decreased muscle mass Diabetes insipidus Hyperostosis Abnormality of finger Macroorchidism Keloids Thick nasal alae Nephrogenic diabetes insipidus Epibulbar dermoid Venous malformation Neoplasm of the central nervous system Wide anterior fontanel Thrombophlebitis Vascular skin abnormality Asymmetry of the thorax Asymmetric growth Enlarged polycystic ovaries Visceral angiomatosis Meningioma Long penis Thin bony cortex Myofibrillar myopathy Buphthalmos Arterial thrombosis Anisocytosis Abnormality of the neck Lower limb asymmetry Arteriovenous malformation Deep venous thrombosis Abnormal lung morphology Increased sensitivity to ionizing radiation Failure to thrive in infancy Hypoplastic left heart Retinal dysplasia Diastasis recti Missing ribs Double outlet right ventricle Abnormal eyelash morphology Wheezing Transposition of the great arteries Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Aplasia/Hypoplasia of the eyebrow Eyelid coloboma Flat occiput Hammertoe Heart murmur Ectropion Trigonocephaly Pyloric stenosis Infantile muscular hypotonia Tachypnea Abnormal palate morphology Azoospermia Chronic constipation Duodenal atresia Multicystic kidney dysplasia Central hypothyroidism Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia U-Shaped upper lip vermilion Ectopic anus Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Holoprosencephaly Horseshoe kidney Emphysema Spasticity Hypoglycemia Thin upper lip vermilion Pes planus High forehead Hypogonadism Recurrent respiratory infections Clinodactyly Cerebral atrophy Short nose Congestive heart failure Sensorineural hearing impairment Camptodactyly Tall stature Febrile seizures Abnormality of the foot Autistic behavior Bronchiolitis obliterans Deeply set eye Bronchiolitis Prominent superficial veins Mild global developmental delay Chromosome breakage Low-set, posteriorly rotated ears Coloboma Bone marrow hypocellularity Premature birth Aortic valve stenosis Leukodystrophy Short toe Short thumb Pachygyria Pancytopenia Dehydration Microdontia Growth hormone deficiency Webbed neck Postural instability Abnormal cardiac septum morphology Microcornea Bruising susceptibility Tachycardia Smooth philtrum Talipes Narrow chest Toe syndactyly Neurological speech impairment Small for gestational age Leukemia Melanocytic nevus Generalized hirsutism Lipodystrophy Anterior segment developmental abnormality Onychomycosis Right aortic arch Alcoholism Femoral hernia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Severe viral infections Recurrent Staphylococcus aureus infections Duodenal stenosis Juvenile rheumatoid arthritis Recurrent candida infections Myelomeningocele Opportunistic infection Sclerocornea Lung abscess Anal canal squamous carcinoma Vitiligo Squamous cell carcinoma of the vulva Impaired neutrophil chemotaxis Perisylvian polymicrogyria Retinal vascular tortuosity Autoimmune hemolytic anemia Parathyroid agenesis Recurrent sinopulmonary infections Increased IgE level Red hair Decrease in T cell count Persistence of primary teeth B lymphocytopenia Fractures of the long bones Recurrent fungal infections T-cell lymphoma Type I truncus arteriosus Parathyroid hypoplasia Abnormality of the middle ear Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Esophoria Right aortic arch with mirror image branching Eczematoid dermatitis Aplasia of the thymus Conotruncal defect Vascular tortuosity Recurrent bacterial skin infections Autoimmune thrombocytopenia Inflammation of the large intestine Malar flattening Metaphyseal dysplasia Erythroderma Blepharophimosis Abnormality of the pinna Abnormality of the kidney Cleft lip Combined immunodeficiency Opisthotonus Neurodevelopmental delay Disproportionate short stature Dislocated radial head Coxa valga Hepatic cysts Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Narrow greater sacrosciatic notches Cervical instability Severe platyspondyly Cognitive impairment Hypertonia Anemia Hypoplasia of the corpus callosum Epiphyseal dysplasia Progressive microcephaly Unilateral renal agenesis Platyspondyly Rheumatoid arthritis Hyperreflexia Arnold-Chiari malformation Bicuspid aortic valve Exotropia Abnormality of the nervous system Broad thumb Renal dysplasia Primary amenorrhea Low posterior hairline Amenorrhea Generalized tonic-clonic seizures Broad nasal tip Renal agenesis Chorea Bifid uvula High, narrow palate Hemolytic anemia Full cheeks Limb undergrowth Generalized-onset seizure Astigmatism Verrucae Depressivity Cachexia Abdominal pain Confusion Cough Pruritus Joint stiffness Joint hypermobility Carcinoma Macrotia Wide nose Hyperkeratosis Recurrent fractures Renal cyst Visual loss Headache Lymphoma Myopia Pain Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Abnormality of skin pigmentation Abdominal distention Retinal arteriolar tortuosity Abnormality of retinal pigmentation Growth abnormality Reduced number of teeth Palmoplantar hyperkeratosis Goiter Abnormality of the metacarpal bones Hemangioma Venous thrombosis Abnormality of the nail Abnormal vertebral morphology Lymphedema Thickened skin Sudden cardiac death Subcutaneous nodule Heterotopia Erythema Open mouth Epidermal acanthosis High myopia Overgrowth Round face Nevus Gliosis Hypertensive crisis Anorectal anomaly Chronic mucocutaneous candidiasis Joint hyperflexibility Hypopigmented skin patches Recurrent skin infections Aganglionic megacolon Choanal atresia Renal hypoplasia Gastrointestinal hemorrhage Urticaria Vesicoureteral reflux Arachnodactyly Squamous cell carcinoma Polycystic kidney dysplasia Prominent nasal bridge Bronchitis Anxiety Myalgia Conductive hearing impairment Gastroesophageal reflux Polyhydramnios Recurrent sinusitis Atopic dermatitis Recurrent bronchitis Laryngomalacia Recurrent bacterial infections Abnormal pulmonary valve morphology Skin ulcer Arrhinencephaly Platybasia Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Thick lower lip vermilion Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Abnormal eyelid morphology Abnormality of the thorax Abnormality of the skull Multiple renal cysts Patellar dislocation Turricephaly Hemivertebrae Foot polydactyly Hyperthyroidism Bowel incontinence Dysphasia Overfolded helix Abnormality of the curvature of the vertebral column


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