Intrauterine growth retardation, and Sarcoma

Diseases related with Intrauterine growth retardation and Sarcoma

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


Top matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Low 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

Low match DESMOSTEROLOSIS


Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

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Other less relevant matches:

Low match LETHAL OSTEOSCLEROTIC BONE DYSPLASIA


Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Low match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Low match DIAMOND-BLACKFAN ANEMIA 1; DBA1


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Low 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

Low match DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Low match BALLER-GEROLD SYNDROME


Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Sarcoma

Symptoms // Phenotype % cases
Growth delay Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Short nose Downslanted palpebral fissures Neoplasm Hypertelorism Myelodysplasia Frontal bossing Anemia Epicanthus Retrognathia Immunodeficiency Seizures Hearing impairment Ventriculomegaly Thrombocytopenia Short neck Hydrocephalus High palate Small for gestational age Low-set ears Leukemia Strabismus Rhabdomyosarcoma Macrocephaly Low-set, posteriorly rotated ears Failure to thrive Hydronephrosis Depressed nasal ridge Clinodactyly Narrow mouth Agenesis of corpus callosum Acute lymphoblastic leukemia Nephroblastoma Ambiguous genitalia Anteverted nares Brachycephaly Prominent forehead Posteriorly rotated ears Ventricular septal defect Lymphoma Cataract Lymphopenia Pancytopenia Glaucoma Respiratory failure Generalized hypotonia Nystagmus Osteosarcoma Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Microretrognathia Absent thumb Depressivity Proptosis Aplastic anemia Anorectal anomaly Bulbous nose Apnea Ataxia Cerebral calcification Colon cancer Scoliosis Choanal atresia Abnormality of the dentition Prominent nasal bridge Recurrent respiratory infections Cafe-au-lait spot Aplasia/Hypoplasia of the corpus callosum Finger clinodactyly Large fontanelles Hypoplastic nasal bridge Alveolar ridge overgrowth Gingival fibromatosis Generalized osteosclerosis Osteopetrosis Aplasia/Hypoplasia of the skin Anal atresia Abnormality of neuronal migration Dermal atrophy Prominent nose Bowing of the long bones Bone marrow hypocellularity Craniosynostosis Malabsorption Ascites Coarctation of aorta Triangular face Rhizomelia Cleft upper lip Growth hormone deficiency Cachexia Cirrhosis Premature ovarian insufficiency Pulmonary fibrosis Tracheoesophageal fistula Abnormality of skin pigmentation Abnormal cardiac septum morphology Atrial septal defect Hypodontia Dolichocephaly Hypoplasia of the radius Muscular hypotonia Sleep apnea Abnormality of cardiovascular system morphology Abnormality of the skeletal system Delayed cranial suture closure Choanal stenosis Brachyturricephaly Short thumb Broad forehead Motor delay Hepatomegaly Edema Congestive heart failure Diabetes mellitus Abnormality of the nervous system Intellectual disability, moderate Increased bone mineral density Respiratory insufficiency Bifid uvula Cerebellar hypoplasia Feeding difficulties Flexion contracture Premature chromatid separation Acute leukemia Combined immunodeficiency Hyperpigmentation of the skin Primary amenorrhea Amenorrhea Dandy-Walker malformation Wide nose Muscular dystrophy High forehead Upslanted palpebral fissure Hypospadias Splenomegaly Midface retrusion Malar flattening Long philtrum Wide nasal bridge Severe intrauterine growth retardation Autoimmune hemolytic anemia Abnormal intestine morphology Bronchiectasis Neutropenia Hemolytic anemia Postnatal growth retardation Hypothyroidism Diarrhea Hypoplasia of the corpus callosum Sloping forehead Polymicrogyria Clinodactyly of the 5th finger Arthrogryposis multiplex congenita Micromelia Severe short stature Abnormal aortic morphology Carious teeth Abnormality of the carpal bones Palmoplantar keratoderma Hepatic failure Hypoplasia of the ulna Urogenital fistula Renal dysplasia Sparse hair Flat forehead Nail dystrophy Recurrent fractures Hyperkeratosis Bilateral radial aplasia Abnormal vertebral morphology Osteoporosis Aplasia of metacarpal bones Metopic synostosis Aplasia/Hypoplasia of the patella Ulnar bowing Hypotelorism Skin vesicle Vesicoureteral reflux Underdeveloped nasal alae Macule Neurofibromas Hypermelanotic macule Abnormality of coagulation Premature graying of hair Epiphora Hypopigmented skin patches Bicoronal synostosis Neoplasm of the skin Hallux valgus Abnormality of the fingernails Skin ulcer Hepatic fibrosis Specific learning disability Abnormal blistering of the skin Nail dysplasia Hypoplasia of the maxilla Hyperhidrosis Perineal fistula Alopecia Low anterior hairline Abnormality of the musculature Freckling Long nose Carpal bone aplasia Non-midline cleft lip Deep philtrum Recurrent pneumonia Midface capillary hemangioma Abnormality of the hair Anal stenosis Sinusitis Spina bifida occulta Abnormality of the metacarpal bones Anomalous splenoportal venous system Telangiectasia Failure to thrive in infancy Aphalangy of the hands Chronic diarrhea Recurrent urinary tract infections Neuroblastoma Hearing abnormality Aseptic necrosis Persistent cloaca Progressive vitiligo Mastoiditis Narrow face Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Limited shoulder movement Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria Abnormal eyelid morphology B lymphocytopenia Decrease in T cell count Abnormal hair quantity Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Telangiectasia of the skin Abnormal eyelash morphology Premature loss of teeth Shallow orbits Osteolysis Vaginal neoplasm Multicystic kidney dysplasia Short palpebral fissure Long face Corneal opacity Blepharophimosis Carpal synostosis Coronal craniosynostosis Abnormality of the ureter Chromosome breakage Myopia Rectovaginal fistula Abnormality of the eye Deeply set eye Polyhydramnios Delayed skeletal maturation Poikiloderma Microphthalmia Holoprosencephaly Aplasia/Hypoplasia of the radius Rib fusion Absent radius Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Duodenal atresia Short humerus Oligodactyly Abnormality of the skull Increased nuchal translucency Abnormal lung lobation Aortic regurgitation Abnormality of immune system physiology Multiple cafe-au-lait spots Abnormality of the face Atrioventricular canal defect Aplasia/Hypoplasia of the thumb Epidermoid cyst Aplasia/Hypoplasia of the cerebellum Fibular hypoplasia Abnormality of vision Intellectual disability, mild Bilateral conductive hearing impairment Stomach cancer Facial asymmetry Hand oligodactyly Anteriorly placed anus Testicular atrophy Trigonocephaly Abnormality of female internal genitalia Limited elbow movement Skin rash Lambdoidal craniosynostosis Ridged nail Patellar hypoplasia Oral leukoplakia Abnormality of the testis Narrow nasal bridge White hair Periodontitis Taurodontia Abnormal eyebrow morphology Neoplasm of the pancreas Blepharitis Abnormality of the pharynx Abnormality of the kidney Cognitive impairment Rough bone trabeculation Absent lacrimal punctum Esophageal stenosis Palmar hyperkeratosis Displacement of the external urethral meatus Optic atrophy Congenital bullous ichthyosiform erythroderma Reticular hyperpigmentation Behavioral abnormality Nail pits Porokeratosis Squamous cell carcinoma of the skin Aplastic/hypoplastic toenail Sagittal craniosynostosis Abnormal localization of kidney Interstitial pneumonitis Abnormality of neutrophils Conductive hearing impairment Oxycephaly Urethral stenosis Anterior plagiocephaly Cellular immunodeficiency Fibroma Cutaneous photosensitivity Submucous cleft hard palate Macrogyria Ambiguous genitalia, female Total anomalous pulmonary venous return Abnormality of earlobe Ambiguous genitalia, male Anomalous pulmonary venous return Abnormality of the nose Abnormal cortical gyration Large earlobe Absent septum pellucidum 2-4 toe syndactyly Partial agenesis of the corpus callosum Bilateral talipes equinovarus Metatarsus adductus Cupped ear Relative macrocephaly Renal hypoplasia/aplasia Lissencephaly Muscle stiffness Joint contracture of the hand Abnormality of cholesterol metabolism Visual impairment Status epilepticus Macroglossia Hypophosphatemia Elevated alkaline phosphatase Abnormality of the genitourinary system Plagiocephaly Narrow palate Wide anterior fontanel Gingival overgrowth Hypoplasia of dental enamel Microdontia Highly arched eyebrow Brachydactyly Downturned corners of mouth Pulmonary hypoplasia Wide mouth Protruding ear Mandibular prognathia Dyspnea Pectus excavatum Respiratory distress Dysphagia Pachygyria Limb undergrowth Thoracic hypoplasia Erythroderma Generalized tonic-clonic seizures Severe global developmental delay Feeding difficulties in infancy Micropenis Cryptorchidism Erythroid dysplasia Folliculitis Protein-losing enteropathy Atopic dermatitis Recurrent skin infections Generalized myoclonic seizures Abnormal lung morphology Inflammatory abnormality of the skin Eczema Lymphadenopathy Ichthyosis Dry skin Respiratory tract infection Recurrent infections Blindness Renal cyst Oligohydramnios Renal agenesis Spasticity Intestinal malrotation Talipes Toe syndactyly Telecanthus Rigidity Patent ductus arteriosus Syndactyly Hypertonia Talipes equinovarus Hypodysplasia of the corpus callosum Intellectual disability, profound Embryonal rhabdomyosarcoma Cerebral hypoplasia Triangular mouth Short sternum Mild microcephaly Multiple renal cysts Bifid scrotum Limb-girdle muscular dystrophy Hydroureter Mixed hearing impairment Convex nasal ridge Congenital glaucoma Anemia of inadequate production Increased mean corpuscular volume 11 pairs of ribs Hypoplastic ilia Thrombocytosis Macrocytic anemia Acute myeloid leukemia Myeloid leukemia Vertebral fusion Triphalangeal thumb Unilateral cleft lip Abnormality of the hand Abnormal dermatoglyphics Hydrops fetalis Webbed neck Premature birth Nausea Nausea and vomiting Narrow chest Lethargy Reticulocytopenia Parietal foramina Cleft lip Hypoplastic sacral vertebrae Otitis media Neurodegeneration Attention deficit hyperactivity disorder Mental deterioration Macrotia Hyperactivity Pneumonia Skeletal muscle atrophy Muscle weakness Hypoplastic coccygeal vertebrae Congenital hypoplastic anemia Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Hypoplastic anemia Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Partial duplication of thumb phalanx Everted upper lip vermilion Pallor Vomiting Natal tooth Hypogonadism Cyanosis Decreased antibody level in blood Nevus Abdominal distention Astigmatism Infertility Delayed puberty Retinopathy Hepatosplenomegaly Cardiomyopathy Pigmentary retinopathy Dysarthria Craniofacial disproportion Metaphyseal sclerosis Bilateral choanal atresia Mandibular aplasia Long hallux Median cleft lip and palate Obstructive sleep apnea Protruding tongue Overgrowth Type II diabetes mellitus Fatigue Microglossia Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Weak voice Prominent superficial veins Myocardial fibrosis Scaphocephaly Epidermal acanthosis Insulin-resistant diabetes mellitus Pericarditis Slender long bone High pitched voice Reduced tendon reflexes Acanthosis nigricans Pointed chin Increased body weight Insulin resistance Dental crowding Unilateral radial aplasia



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