Abnormal facial shape, and Tetralogy of Fallot

Diseases related with Abnormal facial shape and Tetralogy of Fallot

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


Top matches:

Low match WARSAW BREAKAGE 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

Low match NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

Low match RENAL TUBULAR DYSGENESIS; RTD


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

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Other less relevant matches:

Low match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2


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

Low match ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION


ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Low match SIFRIM-HITZ-WEISS SYNDROME; SIHIWES


Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

SIFRIM-HITZ-WEISS SYNDROME; SIHIWES Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

Low match DUPLICATION/INVERSION 15Q11


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

Low match MATTHEW-WOOD SYNDROME


Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

Low match HYPERTELORISM, TEEBI TYPE


Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

Low match TARP SYNDROME


TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.

TARP SYNDROME Is also known as pierre robin syndrome-congenital heart defect-talipes syndrome|pierre robin sequence-congenital heart defect-talipes syndrome|talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava|talipes equinovarus-atrial

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TARP SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Tetralogy of Fallot

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Tetralogy of Fallot. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Atrial septal defect Clinodactyly Patent ductus arteriosus Abnormal heart morphology Hernia Short stature Low-set ears Hearing impairment Microcephaly Growth delay Strabismus Epicanthus Short nose 2-3 toe syndactyly Hydronephrosis Congenital diaphragmatic hernia Wide nasal bridge Seizures Coarctation of aorta High palate Renal insufficiency Failure to thrive Talipes equinovarus Intrauterine growth retardation Respiratory failure Brachycephaly

Rare Symptoms - Less than 30% cases


Optic nerve hypoplasia Pulmonary hypoplasia Pectus excavatum Hypertension Highly arched eyebrow Microphthalmia Hyperactivity Upslanted palpebral fissure Short chin Long philtrum Posteriorly rotated ears Preauricular pit Hypoplasia of the corpus callosum Hepatic failure Horseshoe kidney Frontal bossing Omphalocele Short palpebral fissure Vesicoureteral reflux Postaxial polydactyly Brachydactyly Downslanted palpebral fissures Polydactyly Hypogonadism Ptosis Abnormality of the skeletal system Clinodactyly of the 5th finger Broad nasal tip Heart murmur Renal hypoplasia Micrognathia Pulmonic stenosis Abnormality of cardiovascular system morphology Abnormal cardiac septum morphology Respiratory insufficiency Neurodevelopmental delay Round face Ventriculomegaly Muscular hypotonia Feeding difficulties Optic atrophy Cupped ear Bilateral sensorineural hearing impairment Single transverse palmar crease Acidosis Short neck Syndactyly Toe syndactyly Inguinal hernia Severe expressive language delay Self-biting Severe receptive language delay Hypoplasia of the radius Cutaneous syndactyly Flexion contracture Large fontanelles Abnormal lung morphology Respiratory distress Cerebellar vermis hypoplasia Blepharophimosis Severe short stature Intellectual disability, profound Microtia Intestinal malrotation Echolalia Abnormality of the kidney Pectus carinatum Camptodactyly Protruding ear Talipes Abnormality of brain morphology Unilateral renal agenesis Athetosis Deeply set eye Tongue nodules Anteriorly placed anus Prominent antihelix Short clavicles Flat acetabular roof Gait imbalance Persistent left superior vena cava Abnormal corpus callosum morphology Short sternum Deep palmar crease Cleft soft palate Abnormal hair pattern Absent speech Aggressive behavior Absent septum pellucidum Low-set, posteriorly rotated ears Autistic behavior Short philtrum Synophrys Joint hypermobility Pierre-Robin sequence Stereotypy Glossoptosis Drooling Precocious puberty Underdeveloped supraorbital ridges Cerebellar hypoplasia Gonadal dysgenesis Abnormality of the genital system Anteverted nares Everted lower lip vermilion Thin upper lip vermilion Aplasia/Hypoplasia of the pancreas Hypoplastic spleen Hypoplastic left atrium Abnormal spleen morphology Agenesis of pulmonary vessels Depressed nasal bridge Hypospadias High hypermetropia Ectopic kidney Arrhythmia Prominent forehead Proptosis Umbilical hernia Joint laxity Short femoral neck Cleft lip Craniosynostosis Prominent nasal bridge Finger syndactyly Bilateral cryptorchidism Hypermetropia Oral cleft Thin vermilion border Thick eyebrow Deep philtrum Atrioventricular block Finger clinodactyly Short toe Wide nose Mild intrauterine growth retardation Bilateral lung agenesis Abnormality of the genitourinary system Widow's peak Cleft palate Anophthalmia Female pseudohermaphroditism Rocker bottom foot Hypoplasia of the uterus Hiatus hernia Truncus arteriosus Broad eyebrow Pulmonary artery atresia Abnormality of the uterus Bicornuate uterus Dimple chin Advanced eruption of teeth Abnormality of the helix Lipoma Pulmonary artery hypoplasia Sprengel anomaly Shawl scrotum Natal tooth Bilateral microphthalmos Broad palm Diaphragmatic eventration Long palpebral fissure Duodenal stenosis Abnormality of the diaphragm Annular pancreas Overriding aorta Single ventricle Pelvic kidney Renal malrotation Right aortic arch with mirror image branching Increased body weight Trigonocephaly Nephropathy Spastic tetraplegia Abnormal vertebral morphology Truncal ataxia Aminoaciduria Abnormality of the vertebral column Progressive encephalopathy Titubation Acute encephalopathy Decreased activity of the pyruvate dehydrogenase complex Encephalomalacia Polyhydramnios Abnormality of the pinna Joint hyperflexibility Anal atresia Premature birth Increased serum lactate Adrenal insufficiency Proximal tubulopathy Interrupted aortic arch Periventricular leukomalacia Absent nipple Renal tubular dysfunction Multiple renal cysts Glomerulonephritis Hypotension Abnormality of the urinary system Bilateral single transverse palmar creases Preauricular skin tag Choanal atresia Small nail Oligohydramnios Aciduria Tetraplegia Right aortic arch Ataxia Sensorineural hearing impairment Congestive heart failure Postnatal growth retardation Wide mouth Coloboma Smooth philtrum Abnormality of skin pigmentation Sloping forehead Cutis marmorata Chromosome breakage Optic nerve coloboma Small face Premature chromatid separation Hypoplasia of the cochlea Nystagmus Metabolic acidosis Agenesis of corpus callosum Neurodegeneration Dysmetria Lethargy Developmental regression Muscular hypotonia of the trunk Myoclonus Encephalopathy Hyperreflexia Cerebral atrophy Dystonia Hypertonia Vomiting Blindness Edema Decreased circulating renin level Accessory spleen Arnold-Chiari malformation Exocrine pancreatic insufficiency Malabsorption Cirrhosis Hematuria Renal cyst Triangular face Cyanosis Pigmentary retinopathy Cholestasis Renal dysplasia Pointed chin Rickets Long nose Renal tubular acidosis Posterior embryotoxon Poor coordination Broad forehead Micropenis Wormian bones Ambiguous genitalia Postural instability Tapered finger Astigmatism Coarse facial features Macrocephaly Pulmonary artery stenosis Axenfeld anomaly Dark urine Butterfly vertebrae Peripheral pulmonary artery stenosis Cholestatic liver disease Wolff-Parkinson-White syndrome Pruritus Stroke Widely patent fontanelles and sutures Renotubular dysgenesis Delayed myelination Telecanthus Retrognathia High forehead Myopia Visual impairment Renal magnesium wasting Renal agenesis Vascular ring Infra-orbital crease Potter facies Aplasia of the thymus Anuria Absent gallbladder Wide intermamillary distance Optic disc pallor Retinopathy Hepatomegaly Scarring Abnormality of the liver Proteinuria Jaundice Mandibular prognathia Splenomegaly Cognitive impairment Ventricular hypertrophy Ureteral duplication Aplasia cutis congenita Erythroderma Sandal gap Spontaneous abortion Pulmonary arterial hypertension Cerebellar hemorrhage



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Narrow forehead, related diseases and genetic alterations Macrocephaly and Congenital cataract, related diseases and genetic alterations Epicanthus and Coarse facial features, related diseases and genetic alterations Spasticity and Thin vermilion border, related diseases and genetic alterations Cleft palate and Glaucoma, related diseases and genetic alterations

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