Microcephaly, and Tetralogy of Fallot

Diseases related with Microcephaly and Tetralogy of Fallot

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

Top matches:

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Other less relevant matches:

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.

RENAL TUBULAR DYSGENESIS; RTD Is also known as primitive renal tubule syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL TUBULAR DYSGENESIS; RTD

KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|kleefstra syndrome due to 9q subtelomeric deletion|kleefstra syndrome due to monosomy 9q34|9qstds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

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

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

8P23.1 MICRODELETION SYNDROME Is also known as del(8)(p23.1)|monosomy 8p23.1

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 8P23.1 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Microcephaly and Tetralogy of Fallot

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Microcephaly and Tetralogy of Fallot. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Short nose Short stature Hypertelorism Intrauterine growth retardation Generalized hypotonia Feeding difficulties Atrial septal defect Ventricular septal defect Failure to thrive Hernia Abnormal cardiac septum morphology Specific learning disability Talipes equinovarus Intellectual disability, mild Clinodactyly Hyperactivity Behavioral abnormality Epicanthus Abnormal facial shape Autistic behavior Congenital diaphragmatic hernia Patent ductus arteriosus High palate

Rare Symptoms - Less than 30% cases

Autism Anxiety Attention deficit hyperactivity disorder Precocious puberty Renal insufficiency Premature birth Oligohydramnios Ureteral duplication Transposition of the great arteries Interrupted aortic arch Renal agenesis Upslanted palpebral fissure Obesity Short philtrum Anteverted nares Inguinal hernia Agenesis of corpus callosum Brachycephaly Deeply set eye Wide intermamillary distance Synophrys Pulmonary artery stenosis Highly arched eyebrow Downslanted palpebral fissures High forehead Echolalia Hypertension Microphthalmia Hypoplasia of penis Choanal atresia Hypospadias Thin vermilion border Scoliosis Coloboma Muscular hypotonia Short neck Hearing impairment Coarctation of aorta 2-3 toe syndactyly Hypoplasia of the corpus callosum Frontal bossing Cleft palate Hepatitis Microcolon Small for gestational age Neonatal insulin-dependent diabetes mellitus Left-to-right shunt Aplasia/Hypoplasia of the gallbladder Anterior pituitary agenesis Hypoplasia of right ventricle Pancreatic aplasia Double outlet left ventricle Hypoplastic tricuspid valve Colon perforation Congenital defect of the pericardium Pulmonic stenosis Broad thumb Total absence of the pericardium Brachydactyly Full cheeks Tapered finger Absent speech Clinodactyly of the 5th finger Poor speech Prominent nasal bridge Intermittent diarrhea Proximal placement of thumb Pancreatic hypoplasia External ear malformation Hyperbilirubinemia Patent foramen ovale Hyperglycemia Glycosuria Abnormal aortic morphology Broad hallux phalanx Intestinal malrotation Congenital hypothyroidism Exocrine pancreatic insufficiency Truncus arteriosus Cardiac arrest Biparietal narrowing Atrioventricular canal defect Gliosis Single umbilical artery Mild microcephaly Hypogonadism Prolonged partial thromboplastin time Perimembranous ventricular septal defect Biliary atresia Cervical ribs Hypoplastic left heart Weight loss Hypertrophic cardiomyopathy Pyriform aperture stenosis Neonatal hypotonia Holoprosencephaly Hemangioma Midnasal stenosis EMG: myopathic abnormalities Anosmia Tented upper lip vermilion Anophthalmia Narrow nasal bridge Hamartoma Median cleft lip Maternal diabetes Ambiguous genitalia Duodenal atresia Abnormality of chromosome segregation Hyposmia Panhypopituitarism Prominent median palatal raphe Nasal obstruction Single median maxillary incisor Abnormality of the nasopharynx Cyclopia Semilobar holoprosencephaly Single naris Hypothalamic hamartoma Depressed nasal ridge Hypotelorism Pes planus Unilateral renal agenesis Torus palatinus Aggressive behavior Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Wide nasal bridge Low-set ears Joint hypermobility Broad nasal tip Stereotypy Drooling Micrognathia Neurodevelopmental delay Growth hormone deficiency Gonadal dysgenesis Abnormality of brain morphology Severe expressive language delay Self-biting Severe receptive language delay Severe short stature Hypothyroidism Cleft lip Cleft upper lip Iris coloboma Asthma Ectodermal dysplasia Elevated hepatic transaminase Femoral hernia Umbilical hernia Pulmonary hypoplasia Hip dysplasia Hallucinations Schizophrenia Relative macrocephaly Constrictive median neuropathy Respiratory insufficiency Respiratory failure Polyhydramnios Abnormality of the pinna Joint hyperflexibility Anal atresia Nephropathy Hip dislocation Hypotension Small nail Preauricular skin tag Bilateral single transverse palmar creases Abnormality of the urinary system Glomerulonephritis Preauricular pit Adrenal insufficiency Multiple renal cysts Renal tubular dysfunction Absent nipple Periventricular leukomalacia Arthrogryposis multiplex congenita Intellectual disability, moderate Decreased circulating renin level Bilateral sensorineural hearing impairment Abnormality of the dentition Hypermetropia Sensorineural hearing impairment Congestive heart failure Syndactyly Postnatal growth retardation Wide mouth Smooth philtrum Abnormality of skin pigmentation Single transverse palmar crease Sloping forehead Cupped ear Gastroesophageal reflux Cutis marmorata Chromosome breakage Optic nerve coloboma Small face Premature chromatid separation Hypoplasia of the cochlea Cataract Spasticity Macrocephaly Hydrocephalus Hypertonia Glaucoma Proximal tubulopathy Right aortic arch Diabetes mellitus Telecanthus Protruding tongue Epileptic spasms Abnormality of the testis Subcortical cerebral atrophy Conotruncal defect Cerebral cortical hemiatrophy Visual impairment Myopia Long philtrum Posteriorly rotated ears Retrognathia Delayed myelination Dysphasia Optic disc pallor Ventricular hypertrophy Pulmonary arterial hypertension Spontaneous abortion Short chin Sandal gap Erythroderma Aplasia cutis congenita Abnormality of the skeletal system Respiratory distress Cerebral atrophy Abnormal heart morphology Absent septum pellucidum Aphasia Accessory spleen Depressivity Widely patent fontanelles and sutures Absent gallbladder Anuria Aplasia of the thymus Potter facies Infra-orbital crease Vascular ring Renal magnesium wasting Renotubular dysgenesis Ventriculomegaly Midface retrusion Cerebral cortical atrophy Flat occiput Irritability Downturned corners of mouth Everted lower lip vermilion Sleep disturbance Macroglossia Vesicoureteral reflux Status epilepticus Aortic valve stenosis Absence seizures Aortic regurgitation Mutism Apathy Enlarged thorax


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