Immunodeficiency, and Omphalocele

Diseases related with Immunodeficiency and Omphalocele

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

Top matches:

COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

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

Other less relevant matches:

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

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

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

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

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

Medium match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Immunodeficiency and Omphalocele

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Umbilical hernia Recurrent infections Cryptorchidism Cleft palate Intrauterine growth retardation Microcephaly Hearing impairment Ventricular septal defect Growth delay Inguinal hernia Lymphopenia Psoriasiform dermatitis Ventriculomegaly Hernia Scoliosis Combined immunodeficiency Abnormal facial shape Renal dysplasia High forehead Choanal atresia Failure to thrive Short philtrum Recurrent respiratory infections Cleft lip Feeding difficulties Hydronephrosis Malar flattening Photophobia Posteriorly rotated ears Low-set ears Anal atresia Micrognathia Polyhydramnios Prominent nasal bridge Nail dystrophy Hepatitis Narrow mouth Absent eyebrow Pneumonia Severe combined immunodeficiency Hypoplasia of the thymus Depressed nasal bridge Alopecia of scalp Anemia Alopecia Abnormality of the skeletal system Diarrhea Generalized hypotonia

Rare Symptoms - Less than 30% cases

Heat intolerance Nystagmus Abnormal cardiac septum morphology Bifid scrotum Highly arched eyebrow Macrocephaly Recurrent corneal erosions Blepharitis Plagiocephaly Ectrodactyly Absent septum pellucidum Hydroureter Keratitis Hand polydactyly Abnormality of the urinary system Conjunctivitis Hypogonadotrophic hypogonadism Mixed hearing impairment Low-set, posteriorly rotated ears Laryngomalacia Muscular hypotonia Agenesis of corpus callosum Abnormality of the dentition Sensorineural hearing impairment Ptosis Epicanthus Optic atrophy Anteverted nares Narrow forehead Atrial septal defect Long philtrum Respiratory tract infection Hypospadias Talipes Abnormality of the ribs Subcortical cerebral atrophy Microphthalmia Kyphosis Autism Hemivertebrae Hypohidrosis Flexion contracture Abnormality of the genital system Autoimmune hemolytic anemia Conductive hearing impairment Gastrointestinal atresia Intestinal malrotation Jejunoileal ulceration Thickened skin Small for gestational age Type I diabetes mellitus Microtia Peritoneal abscess Hashimoto thyroiditis Rectal abscess Pulmonary hypoplasia Cleft upper lip Oral cleft Intestinal atresia Duodenal atresia Bloody diarrhea Congenital cystic adenomatoid malformation of the lung Abnormality of the ductus choledochus Polydactyly Syndactyly Sparse hair Scarring Oligohydramnios Decreased antibody level in blood Sepsis Autoimmunity Micropenis Ectopic calcification Renal agenesis Nail dysplasia Growth hormone deficiency Ectodermal dysplasia Abdominal distention Vesicoureteral reflux Hyperkeratosis Abnormally large globe Facial paralysis Choanal stenosis Eyelid coloboma Tics Hyposmia Retinal coloboma Gonadotropin deficiency Neonatal asphyxia Arrhinencephaly Square face Abnormal palmar dermatoglyphics Abnormality of bone mineral density Abnormality of the adrenal glands Aortic arch aneurysm Bilateral choanal atresia Abnormality of the thymus Lop ear Abnormality of the cervical spine Narrow naris Dimple chin Abnormality of tibia morphology Interrupted aortic arch Abnormality of female internal genitalia Microphallus Lacrimation abnormality Abnormal aortic valve morphology Peripheral pulmonary artery stenosis Hypoplasia of the zygomatic bone Anterior hypopituitarism Aplasia/Hypoplasia of the earlobes Aqueductal stenosis Labial hypoplasia Abnormal cranial nerve morphology Esophageal atresia Down-sloping shoulders Holoprosencephaly Reduced number of teeth Abnormality of vision Anosmia Abnormality of the outer ear Cutaneous syndactyly Cranial nerve paralysis Torticollis Short chin Chorioretinal coloboma Horseshoe kidney Hypocalcemia Narrow face Aspiration Preauricular skin tag Short thumb Small nail Overfolded helix Obsessive-compulsive behavior Broad neck Weak cry Abnormality of globe location Double outlet right ventricle External ear malformation Aplasia/Hypoplasia of the thymus Anal stenosis Absent radius Abnormality of immune system physiology Broad palm Cupped ear External genital hypoplasia Vestibular dysfunction Hypoplasia of the ulna Mask-like facies Tracheoesophageal fistula Aplasia/Hypoplasia of the cerebellum Anophthalmia Abnormality of the inner ear Hypoplasia of the semicircular canal Unilateral facial palsy Leukopenia Neurodegeneration Arnold-Chiari malformation Flat face Malabsorption Short nose Pulmonary artery stenosis Natal tooth Myopathic facies Eosinophilia Wormian bones Otitis media Inflammatory abnormality of the skin Short palpebral fissure Spastic tetraplegia Prominent nose Tetraplegia Adducted thumb Portal hypertension Hyperglycemia Steatorrhea Macroglossia Chronic diarrhea Shallow orbits Cellular immunodeficiency Hip dysplasia Arthrogryposis multiplex congenita Hypotelorism Renal insufficiency Impaired T cell function Abnormality of neutrophils Cholestasis Decrease in T cell count Abnormality of chromosome stability Chronic bronchitis Bronchiectasis Communicating hydrocephalus Large fontanelles Agammaglobulinemia Shawl scrotum Protruding tongue Bronchitis Malnutrition Recurrent pneumonia Sinusitis Tetralogy of Fallot Hirsutism Abnormal CNS myelination Wide nasal bridge Ectopic kidney Cone-shaped epiphysis Short metatarsal Short metacarpal Generalized myoclonic seizures Arthritis Osteopenia Short neck Abnormality of the renal tubule Hypochromic anemia Hypochromic microcytic anemia Posterior choanal atresia Parachute mitral valve Short foot Parathyroid hypoplasia Abnormal soft palate morphology Postprandial hyperglycemia Bifid femur Hypoplasia of the cochlea Hand monodactyly Underdeveloped supraorbital ridges Lacrimal duct stenosis Severe global developmental delay Everted lower lip vermilion Upslanted palpebral fissure Absent speech Everted upper lip vermilion Biparietal narrowing Acne Tented upper lip vermilion Pointed chin Severe postnatal growth retardation Convex nasal ridge Bulbous nose Thin lower lip vermilion Diastasis recti Long face Smooth philtrum Intellectual disability, moderate Deeply set eye Breech presentation Recurrent hypoglycemia Cholestatic liver disease Motor delay Delayed speech and language development Renal hypoplasia Paronychia Dandy-Walker malformation Urethral atresia Hypoplasia of the corpus callosum Respiratory distress Frontal bossing Myopia Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Dacryocystitis Dilatation Semilobar holoprosencephaly Ureterocele Nail pits Abnormality of the nasopharynx Duplicated collecting system Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Intellectual disability, severe Delayed skeletal maturation Sparse pubic hair Camptodactyly of finger Ichthyosis Dry skin Astigmatism Hypotrichosis Platyspondyly Papule Hip dislocation Corneal opacity Erythema Cerebellar hypoplasia Developmental regression Camptodactyly Abnormality of the kidney Mental deterioration Macrotia Cerebral cortical atrophy Hyperhidrosis Dementia Severe short stature Bladder diverticulum Rectovaginal fistula Palmoplantar keratoderma Jejunal atresia Hypoplasia of the maxilla Abnormality of the foot Toe syndactyly Carious teeth Blepharophimosis Telecanthus Fever Decreased proportion of CD8-positive T cells Microcolon Broad nasal tip Duodenal stenosis Hematochezia Abnormality of abdomen morphology Thyroiditis Inflammation of the large intestine Abnormal intestine morphology Hemolytic anemia Recurrent abscess formation Hypodontia Microdontia Dysuria Xerostomia Sparse axillary hair Generalized hypopigmentation Anodontia Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Split foot Hypoplastic nipples Sparse scalp hair Hypopituitarism Epiphora Preaxial polydactyly Abnormality of the genitourinary system Oligodontia Sparse eyelashes Sparse and thin eyebrow Thin skin Split hand Postaxial polydactyly Brain atrophy Webbed neck Talipes equinovarus Visual loss Patent ductus arteriosus Midface retrusion Abnormality of cardiovascular system morphology Behavioral abnormality Blindness Hydrocephalus Respiratory insufficiency Dysphagia Clinodactyly of the 5th finger Downslanted palpebral fissures Brachydactyly Strabismus Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Abnormal heart morphology Prominent forehead Cerebral cortical hemiatrophy Paralysis Delayed eruption of teeth Iris coloboma Facial asymmetry Delayed puberty Pulmonic stenosis Pectus carinatum Attention deficit hyperactivity disorder Coloboma Abnormality of the pinna Hypogonadism Postnatal growth retardation Feeding difficulties in infancy Abnormality of the eye Apnea Facial palsy Retrognathia Gastroesophageal reflux Hypothyroidism Respiratory failure Hypoplasia of the bladder Episcleritis Specific learning disability Recurrent bacterial infections Intestinal obstruction Unilateral renal agenesis Erythroderma Scaling skin Urticaria Abnormality of the hand Opacification of the corneal stroma Abnormality of dental enamel Multicystic kidney dysplasia Congenital ichthyosiform erythroderma Abnormality of the nail Abnormality of the hair Abnormal vertebral morphology Hypoplasia of dental enamel Aganglionic megacolon Epidermal acanthosis Eczema Postaxial hand polydactyly Abnormality of the vertebral column Atonic seizures Hyperconvex fingernails Alopecia totalis Abnormality of temperature regulation Abnormal nasolacrimal system morphology Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Olivopontocerebellar atrophy Oligodactyly Hypoplastic fingernail Follicular hyperkeratosis Corneal erosion Abnormal eyelid morphology Absent eyelashes Abnormal eyelash morphology Parakeratosis Uveitis Submucous cleft hard palate Increased urinary sedoheptulose


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