Immunodeficiency, and Brachycephaly

Diseases related with Immunodeficiency and Brachycephaly

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

Top matches:

Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency|cvid|antibody deficiency due to icos defect|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMMON VARIABLE IMMUNODEFICIENCY

Medium 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

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

Other less relevant matches:

Medium 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

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

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

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

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

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

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Brachycephaly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Delayed speech and language development Autism Decreased antibody level in blood Microcephaly Epicanthus Wide nasal bridge Macrocephaly Pneumonia Depressed nasal bridge Seizures Short stature Micrognathia Postnatal growth retardation Combined immunodeficiency High forehead Posteriorly rotated ears Hypertelorism Cryptorchidism Leukemia Neoplasm Abnormal facial shape Cleft palate Abnormality of the skeletal system Long philtrum Short nose Short neck Biparietal narrowing Low-set ears Ventriculomegaly Hepatomegaly Scoliosis Diarrhea Lymphopenia Abnormal cardiac septum morphology Sparse hair Lymphoma Lymphadenopathy Bronchiectasis Recurrent respiratory infections

Rare Symptoms - Less than 30% cases

Convex nasal ridge Fine hair Abnormality of the hip bone Mesomelia Broad forehead Failure to thrive Postural instability Intrauterine growth retardation Oral cleft Motor delay Abnormality of chromosome stability Low-set, posteriorly rotated ears Anteverted nares Prominent nasal bridge Hydrocephalus Hypospadias Downslanted palpebral fissures Feeding difficulties in infancy Ventricular septal defect Atrial septal defect Pointed chin Cerebellar hypoplasia Midface retrusion Muscular hypotonia Kyphosis Dilatation Inguinal hernia Alopecia Prominent forehead Skeletal dysplasia Cleft lip Acute leukemia Dandy-Walker malformation Severe combined immunodeficiency Pancytopenia Recurrent infection of the gastrointestinal tract Humoral immunodeficiency Thrombocytopenia Upslanted palpebral fissure Hepatosplenomegaly Malabsorption Hypoplasia of penis Neutropenia Anal atresia Myelodysplasia Splenomegaly Leukocytosis Autistic behavior Overweight Metaphyseal widening Limited elbow extension Femoral bowing Short thorax Squamous cell carcinoma Cone-shaped epiphysis Genu varum Portal hypertension Tibial bowing Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Highly arched eyebrow Sacral dimple Reduced tendon reflexes Basal cell carcinoma Metaphyseal dysplasia High hypermetropia Heart block Smooth philtrum Exocrine pancreatic insufficiency Everted lower lip vermilion Distal arthrogryposis Long face Esophageal atresia Abnormal palate morphology Thrombocytosis Hypoplasia of the odontoid process Short philtrum Anal stenosis Hodgkin lymphoma Upper limb undergrowth Macrocytic anemia Bulbous nose Short ribs Neoplasm of the skin Acne Gastrointestinal hemorrhage Hypopigmentation of the skin Small hand Short palm Joint hypermobility Micromelia Joint hyperflexibility Abnormality of the ribs Narrow chest Hypotrichosis Arthrogryposis multiplex congenita Pectus carinatum Hyperlordosis Joint laxity Carcinoma Laryngomalacia Lumbar hyperlordosis Accelerated skeletal maturation Abnormality of retinal pigmentation Narrow forehead Sparse eyelashes Hypocalcemia Tracheal stenosis Sparse and thin eyebrow Gingival overgrowth Rhizomelia Blue sclerae Abnormality of epiphysis morphology Aganglionic megacolon Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Tented upper lip vermilion Fair hair Defective production of NFKB1-dependent cytokines Intellectual disability, moderate Susceptibility to chickenpox Hypodontia Ectodermal dysplasia Sparse scalp hair Developmental regression Chronic diarrhea Pulmonary lymphoma Flaring of lower rib cage Dry skin Absent pubertal growth spurt Abnormality of humoral immunity Macrotia Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Apraxia Respiratory tract infection Non-Hodgkin lymphoma Tall stature Proptosis Absent speech Microtia Abnormality of the foot Facial asymmetry Febrile seizures Broad eyebrow Dermal translucency Speech apraxia Fever Obesity Attention deficit hyperactivity disorder Increased head circumference Postnatal macrocephaly Periorbital fullness Arthritis Metaphyseal dysostosis Long fibula Generalized joint laxity Periorbital wrinkles Heat intolerance Conical tooth Concave nasal ridge Lymphocytosis Anhidrotic ectodermal dysplasia Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Cellular immunodeficiency Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Aplasia of the sweat glands Abnormality of the dentition Aplastic anemia B-cell lymphoma Deeply set eye Agammaglobulinemia Metaphyseal cupping Narrow vertebral interpedicular distance Spinal dysraphism Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Large face Bronchiolitis Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Hypohidrosis Anhidrosis Diaphyseal thickening EEG abnormality Aplasia/Hypoplasia of the cerebellum Severe short stature Malar flattening Generalized tonic-clonic seizures Severe global developmental delay Muscular dystrophy Small for gestational age Micropenis Agenesis of corpus callosum Clinodactyly Cataract Renal cyst Nystagmus Large beaked nose Bird-like facies Abnormality of bone marrow cell morphology Telangiectasia of the skin Psoriasiform dermatitis Low anterior hairline Wide nose Generalized myoclonic seizures Cutaneous photosensitivity Bifid scrotum Triangular mouth Rhabdomyosarcoma Short sternum Mild microcephaly Multiple renal cysts Severe intrauterine growth retardation Acute lymphoblastic leukemia Nephroblastoma Amenorrhea Limb-girdle muscular dystrophy Sarcoma Hyperpigmentation of the skin Primary amenorrhea Intellectual disability, profound Ambiguous genitalia Oligohydramnios Telangiectasia Type II diabetes mellitus Premature chromatid separation Vasculitis Chronic otitis media Failure to thrive in infancy Abnormal intestine morphology Purpura Conjunctivitis Recurrent bacterial infections Recurrent pneumonia Sinusitis Restrictive ventilatory defect Recurrent otitis media Otitis media Hemolytic anemia Autoimmunity Abnormality of the liver Elevated hepatic transaminase Arthralgia Emphysema Bronchitis Thin vermilion border Gastrointestinal stroma tumor Erythema Telecanthus Abnormality of the nervous system Hypothyroidism Clinodactyly of the 5th finger Posterior pharyngeal cleft Autoimmune neutropenia Impaired T cell function Recurrent sinusitis B lymphocytopenia IgM deficiency Lymphoproliferative disorder Recurrent bronchitis IgG deficiency Autoimmune thrombocytopenia IgA deficiency Cerebral hypoplasia Embryonal rhabdomyosarcoma Constipation Pierre-Robin sequence Hypoplastic fingernail Mitral stenosis Communicating hydrocephalus Enlarged cisterna magna Ectopic anus Single umbilical artery Missing ribs Double outlet right ventricle Aplasia/Hypoplasia of the nipples Adrenal hypoplasia Posterior embryotoxon Narrow nasal bridge Atrioventricular canal defect Congenital glaucoma Prominent occiput Hypoplastic left heart Abnormal mitral valve morphology Complete atrioventricular canal defect Unilateral renal agenesis Cognitive impairment Delayed skeletal maturation Cardiomyopathy Respiratory insufficiency Myopia Hypertension Visual impairment Anemia Strabismus Lethal skeletal dysplasia Primum atrial septal defect Cerebellar malformation Facial hemangioma Contractures of the large joints Posterior fossa cyst Abnormality of the fontanelles or cranial sutures Abnormal tricuspid valve morphology Abnormality of neuronal migration Chorioretinal coloboma Hypodysplasia of the corpus callosum Glaucoma Finger syndactyly Neurological speech impairment Coloboma Camptodactyly Abnormality of the kidney Hydronephrosis Gastroesophageal reflux Abnormal heart morphology Toe syndactyly Patent ductus arteriosus Abnormality of cardiovascular system morphology Syndactyly Optic atrophy Brachydactyly Feeding difficulties Flexion contracture Pulmonic stenosis Iris coloboma Hand polydactyly Large fontanelles Abnormality of the hand Narrow palate Wormian bones Hemivertebrae Horseshoe kidney Aortic valve stenosis Preauricular skin tag Cerebellar vermis hypoplasia High, narrow palate Low posterior hairline Limb undergrowth Tetralogy of Fallot Renal agenesis Growth hormone deficiency Intestinal malrotation Bifid uvula Everted upper lip vermilion


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