Ventricular septal defect, and Small for gestational age

Diseases related with Ventricular septal defect and Small for gestational age

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Small for gestational age that can help you solving undiagnosed cases.


Top matches:

High match FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

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

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 TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

High match PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME


Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|pancreatic agenesis and congenital heart defects|pachd|yorifuji-okuno syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME

Medium match SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME


This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.

SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME Is also known as star syndrome|syndactyly with renal and anogenital malformations

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME

Medium match COMPLEX LETHAL OSTEOCHONDRODYSPLASIA


Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015).

COMPLEX LETHAL OSTEOCHONDRODYSPLASIA Is also known as complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMPLEX LETHAL OSTEOCHONDRODYSPLASIA

Medium match MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME


Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

Medium match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Medium 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

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Small for gestational age

Symptoms // Phenotype % cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ventricular septal defect and Small for gestational age. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Global developmental delay Short stature Hernia Wide nasal bridge Patent foramen ovale Atrial septal defect Polyhydramnios Abnormal cardiac septum morphology Anemia Abnormal facial shape Immunodeficiency Clitoral hypertrophy Micrognathia Oligohydramnios Intellectual disability Cleft palate Abnormality of the skeletal system Hydronephrosis Wide nose Anteverted nares Aortic regurgitation Anal atresia Seizures

Rare Symptoms - Less than 30% cases


Cirrhosis Downslanted palpebral fissures Depressed nasal bridge Proptosis Hepatomegaly Hydrops fetalis Hepatic fibrosis Edema Wide anterior fontanel Thrombocytopenia Patent ductus arteriosus Pancytopenia Bifid uvula Wide mouth Tetralogy of Fallot Feeding difficulties Ptosis Short nose Brachycephaly Flexion contracture Peripheral pulmonary artery stenosis Vesicoureteral reflux Abnormality of the pinna Telecanthus Thin upper lip vermilion Generalized hypotonia Hearing impairment Cerebral atrophy Intermittent diarrhea Single umbilical artery Pulmonary artery stenosis Long palpebral fissure Hepatitis Pulmonic stenosis Elevated hepatic transaminase Neonatal hypotonia Inguinal hernia Abnormal heart morphology Microcolon Prominent forehead Intestinal malrotation Sparse hair Ventriculomegaly Long face Asthma Talipes equinovarus Congenital diaphragmatic hernia Cortical gyral simplification Respiratory distress Diarrhea Short neck Sepsis Epicanthus Hypertrophic cardiomyopathy Poor speech Severe global developmental delay Intellectual disability, moderate Muscular hypotonia of the trunk Aggressive behavior Myoclonus Hypoplasia of the corpus callosum Clinodactyly Short distal phalanx of finger Optic atrophy Galactosuria Brachydactyly Delayed speech and language development Villous atrophy Large forehead Delayed myelination Downturned corners of mouth Progressive microcephaly Right ventricular hypertrophy Short 5th finger Central hypotonia Large placenta Spastic tetraparesis Short toe Abnormality of iron homeostasis Hypoplasia of the maxilla Woolly hair Tetraparesis Small nail Ventricular hypertrophy Sloping forehead Abnormal thrombocyte morphology Abnormality of the pancreas Spasticity Cleft lip Cardiomegaly Pleural effusion Hypermethioninemia Adducted thumb Disproportionate short-limb short stature Wormian bones Short ribs Limb undergrowth Thoracic hypoplasia Webbed neck Ascites Recurrent fractures Pulmonary hypoplasia Flat face Humoral immunodeficiency Platyspondyly Flared metaphysis Decreased skull ossification Trichorrhexis nodosa Osteopenia Decreased fibular diameter Increased mean platelet volume Intractable diarrhea Micropenis Fractured radius Secretory diarrhea Hypergalactosemia Renal cortical microcysts Multiple rib fractures Beaded ribs Large fleshy ears Increased serum iron Multiple prenatal fractures Unilateral cleft lip Short femur Capillary malformation Iron deficiency anemia Hemiclonic seizures Atrioventricular block Abnormality of the sternum Reduced subcutaneous adipose tissue Respiratory tract infection Decreased muscle mass Cerebral hemorrhage Ectopia lentis Joint contracture of the hand Aortic root aneurysm Exotropia Tall stature Mitral regurgitation Abnormality of the liver Microtia Broad forehead Delayed puberty Celiac disease Soft skin Dry skin Bilateral coxa valga Narrow mouth Osteoporosis Long philtrum Frontal bossing Cognitive impairment Increased arm span Cervical spine instability Arterial dissection Hiatus hernia Ascending aortic dissection Arterial tortuosity Graves disease Cleft soft palate Spondylolisthesis Broad face Aortic dissection Osteoarthritis Blue sclerae Thrombocytosis High palate Recurrent upper respiratory tract infections Hyporeflexia Pectus excavatum Midface retrusion Dilatation Hypoalbuminemia Motor delay Brittle hair Leukopenia Abnormality of the immune system Muscular hypotonia Curly hair Scoliosis Abnormal hair whorl Jaundice Underdeveloped supraorbital ridges Kyphoscoliosis Retrognathia Mitral valve prolapse Fine hair Hepatic failure Overgrowth Posteriorly rotated ears Premature birth Aciduria Bruising susceptibility Joint hypermobility Arachnodactyly Pes planus Smooth philtrum Depressed nasal ridge Chronic diarrhea Arthrogryposis multiplex congenita Abnormality of the hair Dolichocephaly Pectus carinatum Syncope Craniosynostosis Cerebellar hypoplasia Combined immunodeficiency Hematochezia Abnormality of abdomen morphology Severe combined immunodeficiency Alopecia of scalp Hashimoto thyroiditis Thyroiditis Autoimmune hemolytic anemia Absent eyebrow Hypoplasia of the thymus Inflammation of the large intestine Psoriasiform dermatitis Abnormal intestine morphology Type I diabetes mellitus Lymphopenia Thickened skin Omphalocele Duodenal atresia Intestinal atresia Abdominal distention Peritoneal abscess Thin vermilion border Synophrys Short philtrum Abnormality of the kidney Hepatosplenomegaly Splenomegaly Abnormality of the ductus choledochus Congenital cystic adenomatoid malformation of the lung Ectopic calcification Jejunoileal ulceration Decreased proportion of CD8-positive T cells Gastrointestinal atresia Jejunal atresia Rectal abscess Bloody diarrhea Duodenal stenosis Decreased antibody level in blood Hemolytic anemia Abnormal bleeding Nephroblastoma Embryonal neoplasm Medulloblastoma Acute monocytic leukemia Aplastic anemia Chromosome breakage Neuroblastoma Acute myeloid leukemia Bone marrow hypocellularity Recurrent respiratory infections Hyperpigmentation of the skin Cafe-au-lait spot Short thumb Leukemia Postnatal growth retardation Abnormality of cardiovascular system morphology Neoplasm Chromosomal breakage induced by crosslinking agents Respiratory failure Nail dystrophy Multicystic kidney dysplasia Autoimmunity Scarring Alopecia Pulmonary artery hypoplasia Chronic lung disease Recurrent lower respiratory tract infections Scaphocephaly Narrow face Protruding ear Recurrent urinary tract infections Pachygyria Abnormal lung morphology Hypertrichosis Decreased fetal movement Ambiguous genitalia Convex nasal ridge Triangular face Coarctation of aorta Hypospadias Joint laxity Renal agenesis Broad nasal tip Single transverse palmar crease Retinal dystrophy Bulbous nose Talipes Toe syndactyly Clinodactyly of the 5th finger Horseshoe kidney Syndactyly Renal insufficiency Myopia Total absence of the pericardium Colon perforation Congenital defect of the pericardium Hypoplastic tricuspid valve Spina bifida Spina bifida occulta Pancreatic aplasia Bicornuate uterus Cardiomyopathy Mitral atresia 4-5 toe syndactyly Pelvic kidney Lop ear Duane anomaly Labial hypoplasia Rectovaginal fistula Bicuspid aortic valve Eyelid coloboma Narrow nose Syringomyelia Anal stenosis Macular dystrophy Ectopic kidney Hypoplasia of the radius Double outlet left ventricle Hypoplasia of right ventricle Telangiectasia Micronodular cirrhosis Diabetes mellitus Hypertension Abnormality of glutamine metabolism Increased serum bile acid concentration Abnormality of the clitoris Infra-orbital crease Functional respiratory abnormality Biventricular hypertrophy Gliosis Premature skin wrinkling Dextrocardia Poor suck Deep philtrum Cutis laxa Situs inversus totalis Decreased liver function Umbilical hernia Cardiac arrest Anterior pituitary agenesis Interrupted aortic arch Aplasia/Hypoplasia of the gallbladder Left-to-right shunt Neonatal insulin-dependent diabetes mellitus Pancreatic hypoplasia Cervical ribs Biliary atresia Perimembranous ventricular septal defect Ureteral duplication Hyperbilirubinemia Prolonged partial thromboplastin time Mild microcephaly Truncus arteriosus Exocrine pancreatic insufficiency Congenital hypothyroidism Transposition of the great arteries Glycosuria Hyperglycemia Abnormalities of placenta or umbilical cord



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