Immunodeficiency, and Polyhydramnios

Diseases related with Immunodeficiency and Polyhydramnios

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


Top matches:

High match PANCYTOPENIA DUE TO IKZF1 MUTATIONS


Pancytopenia due to IKZF1 mutations is a rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.

PANCYTOPENIA DUE TO IKZF1 MUTATIONS Is also known as cid due to ikaros deficiency|combined immunodeficiency due to ikaros deficiency

Related symptoms:

  • Anemia
  • Edema
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PANCYTOPENIA DUE TO IKZF1 MUTATIONS

High match COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM


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

High match SECKEL SYNDROME 9; SCKL9


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

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Other less relevant matches:

High match MULTIPLE INTESTINAL ATRESIA


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

High 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

High match SYNDROMIC DIARRHEA


Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

High match 15Q24 MICRODELETION SYNDROME


15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

High match 22Q11.2 DELETION SYNDROME


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

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

High match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Top 5 symptoms//phenotypes associated to Immunodeficiency and Polyhydramnios

Symptoms // Phenotype % cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Narrow mouth Micrognathia Seizures Downslanted palpebral fissures Abnormal facial shape Feeding difficulties in infancy Hearing impairment Hypospadias Scoliosis Strabismus Autism Muscular hypotonia Anemia Generalized hypotonia Cryptorchidism Low-set ears Talipes equinovarus Ventriculomegaly Small for gestational age Long philtrum Atrial septal defect Lymphopenia Wide nasal bridge Hernia Thrombocytopenia Hypertelorism Long face Abnormality of cardiovascular system morphology Tetralogy of Fallot Narrow face Diarrhea Anal atresia Ptosis Behavioral abnormality Patent ductus arteriosus Pulmonic stenosis Abnormality of the pinna Retrognathia Laryngomalacia Gastroesophageal reflux Abnormal heart morphology Anteverted nares Depressed nasal bridge Abnormal cardiac septum morphology Microphthalmia Attention deficit hyperactivity disorder Highly arched eyebrow Hypoplasia of the thymus Prominent nasal bridge Intestinal malrotation Autoimmunity Sparse hair Gastrointestinal atresia Intestinal atresia Iris coloboma Omphalocele Pancytopenia Decreased antibody level in blood Postnatal growth retardation Recurrent infections

Rare Symptoms - Less than 30% cases


Cafe-au-lait spot Arachnodactyly Delayed puberty Joint hyperflexibility Broad forehead Facial asymmetry Microtia Proptosis Glaucoma Respiratory tract infection Abnormality of the cervical spine Hypothyroidism Short thumb Abnormality of the genital system Prominent forehead Small nail Frontal bossing Single transverse palmar crease Umbilical hernia Conductive hearing impairment Constipation Abnormality of the thorax Wide nose Nystagmus Nasal speech Hypogonadism Obesity Upslanted palpebral fissure Growth hormone deficiency Cupped ear Intellectual disability, mild Brachydactyly Delayed speech and language development High palate Hyperactivity Micropenis Abnormality of the outer ear Deeply set eye Malar flattening Joint laxity Microphallus Edema Peripheral pulmonary artery stenosis Abnormal thrombocyte morphology Cleft palate Cataract Low-set, posteriorly rotated ears Recurrent upper respiratory tract infections Optic atrophy Hydrocephalus Abnormality of the dentition Fine hair Inguinal hernia Impaired T cell function Vesicoureteral reflux Syndactyly Congenital cystic adenomatoid malformation of the lung Coloboma Autoimmune hemolytic anemia Duodenal atresia Alopecia of scalp Severe combined immunodeficiency Combined immunodeficiency Ectopic calcification Inflammation of the large intestine Abnormal intestine morphology Sepsis Bloody diarrhea Rectal abscess Jejunoileal ulceration Peritoneal abscess Hepatomegaly Abnormality of the ductus choledochus Respiratory distress Patellar dislocation Abnormality of the skeletal system Abnormal aortic valve morphology Respiratory failure Protruding ear Asthma Convex nasal ridge Clinodactyly of the 5th finger Decreased fetal movement Congenital diaphragmatic hernia Dysphagia Absent eyebrow Hashimoto thyroiditis Hypoplasia of the corpus callosum Abnormality of the liver Chronic diarrhea Leukemia Aspiration Arrhinencephaly Renal hypoplasia Choanal atresia Aganglionic megacolon Nail dystrophy Abdominal distention Cirrhosis Hepatitis Thickened skin Hypocalcemia Muscular hypotonia of the trunk Aggressive behavior Type I diabetes mellitus Elevated hepatic transaminase Psoriasiform dermatitis Polydactyly Overfolded helix Hand polydactyly Down-sloping shoulders Retinal coloboma Sensorineural hearing impairment Broad neck Occipital myelomeningocele Abnormality of the tonsils Feeding difficulties Tics Eyelid coloboma Abnormality of tibia morphology Hypoplasia of the zygomatic bone Respiratory insufficiency Labial hypoplasia Abnormal aortic arch morphology Multiple suture craniosynostosis Abnormally large globe Abnormal cranial nerve morphology Hyposmia Tricuspid atresia Facial paralysis Choanal stenosis Hypogonadotrophic hypogonadism Weak cry Blindness Renal agenesis Apnea Abnormality of vision Abnormality of the eye Anosmia Paralysis Pectus carinatum Talipes Cleft upper lip Delayed eruption of teeth Webbed neck Dandy-Walker malformation Cleft lip Abnormality of the ribs Renal dysplasia Preauricular skin tag Cutaneous syndactyly Cranial nerve paralysis Torticollis Plagiocephaly Holoprosencephaly Short chin Hemivertebrae Facial palsy Reduced number of teeth Midface retrusion Mixed hearing impairment Visual loss Double outlet right ventricle External ear malformation Esophageal atresia Anal stenosis Absent radius Abnormality of immune system physiology Pneumonia Horseshoe kidney Broad palm External genital hypoplasia Hydronephrosis Vestibular dysfunction Hypoplasia of the ulna Mask-like facies Tracheoesophageal fistula Aplasia/Hypoplasia of the cerebellum Bifid scrotum Anophthalmia Obsessive-compulsive behavior Chorioretinal coloboma Abnormality of the urinary system Photophobia Aqueductal stenosis Thin upper lip vermilion Aplasia/Hypoplasia of the earlobes Obstructive sleep apnea Medulloblastoma Pheochromocytoma Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Dyslexia Meningioma Short attention span Hypoplastic iliac wing Low hanging columella Capillary hemangioma Self-mutilation Nasolacrimal duct obstruction Poor coordination Overweight Shawl scrotum Neuroblastoma Dislocated radial head Neurofibromas Congenital glaucoma Truncal obesity Delayed cranial suture closure Broad hallux Impulsivity Bicuspid aortic valve Abnormal cornea morphology Rhabdomyosarcoma Narrow palate Vascular ring Radial deviation of thumb terminal phalanx Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Duplication of phalanx of hallux Broad distal phalanx of finger Dyscalculia Chorioretinal dystrophy Keloids Duane anomaly Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina Facial grimacing Tethered cord Phonophobia Spina bifida occulta Low anterior hairline Anterior hypopituitarism Square face Neoplasm Posterior choanal atresia Parachute mitral valve Hypoplasia of the semicircular canal Parathyroid hypoplasia Abnormal soft palate morphology Bifid femur Hypoplasia of the cochlea Hand monodactyly Unilateral facial palsy Aplasia/Hypoplasia of the thymus Abnormality of the inner ear Abnormal palmar dermatoglyphics Hypertension Abnormality of bone mineral density Abnormality of the adrenal glands Aortic arch aneurysm Bilateral choanal atresia Abnormality of the thymus Lop ear Narrow naris Dimple chin Interrupted aortic arch Abnormality of female internal genitalia Lacrimation abnormality Gonadotropin deficiency Flexion contracture Hyperreflexia Wide anterior fontanel Hypoplasia of the maxilla Exotropia Stereotypy Dental crowding Long eyelashes Hypoplasia of dental enamel Broad thumb Mitral regurgitation Low posterior hairline Coarctation of aorta Otitis media Prominent nose Dental malocclusion Recurrent fractures Pectus excavatum Hirsutism Thick eyebrow Joint hypermobility Unsteady gait Abnormality of the kidney Intellectual disability, moderate EEG abnormality Retinal arteriolar tortuosity Pes planus Agenesis of corpus callosum Delayed skeletal maturation Arrhythmia Hypertensive crisis Thick hair Anorectal anomaly Premature birth Abnormality of the immune system Brittle hair Hypoalbuminemia Leukopenia Aortic regurgitation Abnormality of the hair Hepatic fibrosis Depressed nasal ridge Aciduria Bifid uvula Iron deficiency anemia Hepatic failure Dry skin Wide mouth Jaundice Osteoporosis Cognitive impairment Type II transferrin isoform profile Abnormal T cell morphology Gastrointestinal inflammation Macrovesicular hepatic steatosis Curly hair Underdeveloped supraorbital ridges Proximal tubulopathy Renal cortical microcysts Short nose Hypertonia Intellectual disability, severe Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Galactosuria Humoral immunodeficiency Hypermethioninemia Increased serum iron Thrombocytosis Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Abnormality of the pancreas Villous atrophy Large forehead Woolly hair Micronodular cirrhosis Abnormal cortical gyration Clinodactyly Clitoral hypertrophy Thyroiditis Hemolytic anemia Scarring Alopecia Pulmonary artery hypoplasia Chronic lung disease Recurrent lower respiratory tract infections Scaphocephaly Cortical gyral simplification Multicystic kidney dysplasia Hematochezia Recurrent urinary tract infections Pachygyria Abnormal lung morphology Hypertrichosis Ambiguous genitalia Recurrent respiratory infections Recurrent abscess formation B lymphocytopenia Acute lymphoblastic leukemia Recurrent bacterial infections Abnormality of abdomen morphology Duodenal stenosis Neurodevelopmental delay Malabsorption Loss of consciousness Hyperbilirubinemia Hypohidrosis Cholestasis Hip dysplasia Focal-onset seizure Abnormal bleeding Hepatic steatosis Postaxial polydactyly Arthrogryposis multiplex congenita Microcolon Neonatal hypotonia Hepatosplenomegaly Hyperkeratosis Cerebral cortical atrophy Hyperhidrosis Cerebral atrophy Vomiting Cerebellar atrophy Decreased proportion of CD8-positive T cells Jejunal atresia Dilatation Pes cavus Abnormal pulmonary valve morphology Gastrointestinal hemorrhage Chronic otitis media Cholelithiasis Polycystic kidney dysplasia Schizophrenia Hypopigmented skin patches Purpura Abnormality of dental enamel Spina bifida Specific learning disability Bulbous nose Dysphasia Carious teeth Short philtrum Telecanthus Anxiety Arthritis Myalgia Depressivity Splenomegaly Short neck Abnormality of the proximal phalanx of the thumb Acne Bowel incontinence Conspicuously happy disposition Varicose veins Platybasia Small earlobe Abnormality of the pharynx Seborrheic dermatitis Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Abnormal eyelid morphology Hyperthyroidism Truncus arteriosus Meningocele Abnormality of the skull Multiple renal cysts Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Foot polydactyly Medial flaring of the eyebrow Long palm Posteriorly rotated ears Short palm Open mouth Thick lower lip vermilion Interphalangeal joint contracture of finger Underdeveloped nasal alae Delayed myelination Tapered finger Sleep disturbance Small hand High, narrow palate Polymicrogyria Hoarse voice Thin vermilion border Smooth philtrum Toe syndactyly Hypermetropia Severe global developmental delay Camptodactyly of finger Autistic behavior Developmental regression High forehead Macrotia Sparse and thin eyebrow Bilateral single transverse palmar creases Large fleshy ears Thick upper lip vermilion Dysplastic corpus callosum Anisocoria Flared nostrils Toe clinodactyly Deep plantar creases Thick nasal alae Unilateral cryptorchidism Abnormality of nervous system morphology Wide nasal base Overlapping fingers High anterior hairline Pointed chin Insomnia Abnormality of digit Slender finger Mild short stature Radial deviation of finger Proximal placement of thumb Abnormality of the voice Widely spaced teeth Sandal gap Microretrognathia Plantar crease between first and second toes



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