Intrauterine growth retardation, and Combined immunodeficiency

Diseases related with Intrauterine growth retardation and Combined immunodeficiency

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Combined immunodeficiency that can help you solving undiagnosed cases.


Top matches:

High match SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY


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

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 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

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Other less relevant matches:

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 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


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

High match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

High match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

High match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Medium match TRICHOHEPATOENTERIC SYNDROME 2; THES2


Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Medium match PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY


The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.

PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY Is also known as natural killer cell deficiency, familial isolated|natural killer cell and glucocorticoid deficiency with dna repair defect|nkgcd|primary immunodeficiency due to mcm4 deficiency|nkcd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Combined immunodeficiency

Symptoms // Phenotype % cases
Immunodeficiency Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Intrauterine growth retardation and Combined immunodeficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Small for gestational age Global developmental delay Anemia Abnormal facial shape Recurrent infections Lymphopenia Severe combined immunodeficiency Short stature Wide nasal bridge Depressed nasal bridge Short neck Autoimmune hemolytic anemia Bloody diarrhea Thrombocytopenia Failure to thrive Hepatomegaly Ventriculomegaly Autoimmunity Chronic diarrhea Hypertelorism Neoplasm Micrognathia Hepatitis Cleft palate Sparse hair Low-set ears Micropenis Polyhydramnios

Rare Symptoms - Less than 30% cases


Polydactyly Wide nose Abnormality of the liver Renal cyst Amenorrhea Retrognathia Attention deficit hyperactivity disorder Intellectual disability, profound Malabsorption Primary amenorrhea Thin upper lip vermilion Deeply set eye Vomiting Cerebellar atrophy Sepsis Brain atrophy Epicanthus Lymphoma B-cell lymphoma Cirrhosis Midface retrusion Anteverted nares Hypoplasia of the corpus callosum Short nose Long philtrum Prominent forehead Malar flattening Abnormal T cell morphology Hypospadias Macrotia Clinodactyly Posteriorly rotated ears Upslanted palpebral fissure Long nose Postnatal growth retardation Leukemia Lymphoproliferative disorder Villous atrophy Generalized hypotonia Cryptorchidism Respiratory failure Hypoplasia of the thymus Abnormality of the ductus choledochus Peritoneal abscess Scoliosis Gastrointestinal atresia Jejunoileal ulceration Rectal abscess Respiratory insufficiency Ectopic calcification Intestinal atresia Alopecia of scalp Congestive heart failure Hashimoto thyroiditis Absent eyebrow Psoriasiform dermatitis Type I diabetes mellitus Thickened skin Omphalocele Ventricular septal defect Intestinal malrotation Abdominal distention Nail dystrophy Pneumonia Congenital cystic adenomatoid malformation of the lung Rhabdomyosarcoma Decreased antibody level in blood Acute lymphoblastic leukemia Severe intrauterine growth retardation Multiple renal cysts Cognitive impairment Acute leukemia Hyperactivity Inflammation of the large intestine Recurrent respiratory infections Motor delay Abnormal intestine morphology Hemolytic anemia Myopia Anal atresia Hypertension Scarring Stroke Dementia Hypothyroidism Abnormality of skin pigmentation Stage 5 chronic kidney disease Corneal opacity Hip dislocation Hyperlordosis Developmental regression Proteinuria Bulbous nose Recurrent viral infections Osteopenia Platyspondyly Abnormality of the kidney Astigmatism Hand polydactyly Headache Smooth philtrum Short toe Psychosis Congenital diaphragmatic hernia Renal agenesis Underdeveloped nasal alae Tapered finger Small hand Flat face Talipes Hemivertebrae Broad forehead Coloboma Blepharophimosis Wide mouth Autistic behavior Abnormality of the pinna EEG abnormality Gastroesophageal reflux Autism Pointed chin Narrow palpebral fissure Renal insufficiency Hydrocele testis Kyphosis Abnormality of the dentition Cardiomyopathy Fever Absent nasal bridge Widely-spaced maxillary central incisors Chorioretinitis Pulmonary artery atresia Optic nerve coloboma Missing ribs Microretrognathia Arnold-Chiari type I malformation Syringomyelia Unilateral renal agenesis Anophthalmia Language impairment Neutropenia Bilateral ptosis Pyloric stenosis Aortic regurgitation Nephropathy Encephalitis Abnormal cerebellum morphology Hypoplasia of the capital femoral epiphysis Abnormal immunoglobulin level Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Arteriosclerosis Hypoglycemia Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Disproportionate short-trunk short stature Lymphadenopathy Delayed skeletal maturation Thoracic kyphosis Decreased serum iron Chronic hepatitis Intractable diarrhea Hypochromic microcytic anemia Pili canaliculi Trichorrhexis nodosa Uncombable hair Woolly hair Splenomegaly Moyamoya phenomenon Microcytic anemia Colitis Brittle hair Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Ovoid vertebral bodies Transient ischemic attack Gliosis Abnormal lung morphology Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Fine hair Reduced bone mineral density Lumbar hyperlordosis Nephrotic syndrome Microdontia Decreased testicular size Waddling gait Premature birth Migraine Azoospermia Coarse hair Abnormality of the vasculature Focal segmental glomerulosclerosis Protuberant abdomen Glomerulopathy Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule High pitched voice Emphysema Spondyloepiphyseal dysplasia Chronic kidney disease Melanocytic nevus Adrenal insufficiency Obesity Nephritis Chromosome breakage Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Inguinal hernia Choanal atresia Hernia Hyperbilirubinemia Micronodular cirrhosis Impaired T cell function Proximal tubulopathy Abnormal cortical gyration Neurodevelopmental delay Loss of consciousness Hypohidrosis Gastrointestinal inflammation Cholestasis Pancytopenia Decreased fetal movement Hip dysplasia Focal-onset seizure Abnormal bleeding Macrovesicular hepatic steatosis Type II transferrin isoform profile Postaxial polydactyly Severe global developmental delay Hyperpigmentation of the skin Ambiguous genitalia Oligohydramnios Dandy-Walker malformation Generalized myoclonic seizures Generalized tonic-clonic seizures Muscular dystrophy Nystagmus Feeding difficulties in infancy High forehead Brachycephaly Agenesis of corpus callosum Cerebellar hypoplasia Hydrocephalus Cataract Hepatic steatosis Arthrogryposis multiplex congenita Myelodysplasia Cortical gyral simplification Abnormality of the skeletal system Recurrent abscess formation Recurrent aphthous stomatitis Overlapping fingers Recurrent lower respiratory tract infections Severe vision loss CNS hypomyelination Thyroiditis Short chin Pachygyria Cerebellar vermis hypoplasia Visual impairment Sensorineural hearing impairment Hearing impairment Alopecia Abnormality of abdomen morphology Abnormal cardiac septum morphology Cerebral cortical atrophy Muscular hypotonia of the trunk Aggressive behavior Neonatal hypotonia Elevated hepatic transaminase Hepatosplenomegaly Hyperkeratosis Hyperhidrosis Hematochezia Cerebral atrophy Talipes equinovarus Decreased proportion of CD8-positive T cells Jejunal atresia Microcolon Duodenal stenosis Duodenal atresia Sarcoma Limb-girdle muscular dystrophy Dilatation Recurrent sinopulmonary infections B lymphocytopenia Decrease in T cell count Abnormal hair quantity Glioma Abnormality of chromosome stability Medulloblastoma Recurrent bronchitis T-cell lymphoma Abnormal eyelid morphology Hearing abnormality Anal stenosis Neuroblastoma Abnormality of the musculature Freckling Pollakisuria Recurrent infection of the gastrointestinal tract Abnormality of neuronal migration Feeding difficulties Microphthalmia Intellectual disability, mild Behavioral abnormality Atrial septal defect Macrocephaly Delayed speech and language development Ptosis Anorectal anomaly Muscular hypotonia Strabismus Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Non-midline cleft lip Premature ovarian insufficiency Nephroblastoma Hypodysplasia of the corpus callosum Intellectual disability, moderate Abnormality of the nervous system Hydronephrosis Skeletal muscle atrophy Muscle weakness Ataxia Embryonal rhabdomyosarcoma Prominent nasal bridge Premature chromatid separation Cerebral hypoplasia Triangular mouth Short sternum Mild microcephaly Bifid scrotum Mental deterioration Cleft upper lip Deep philtrum Telangiectasia Cachexia Recurrent pneumonia Low anterior hairline Abnormality of the hair Sinusitis Cafe-au-lait spot Bronchiectasis Neurodegeneration Recurrent urinary tract infections Abnormality of the face Cutaneous photosensitivity Sloping forehead Convex nasal ridge Otitis media Prominent nose Stomatitis



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