Downslanted palpebral fissures, and Tetralogy of Fallot

Diseases related with Downslanted palpebral fissures and Tetralogy of Fallot

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

Top matches:

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

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

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

Other less relevant matches:

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

The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.

AUTOSOMAL RECESSIVE ROBINOW SYNDROME Is also known as covesdem syndrome|rrs|costovertebral segmentation defect-mesomelia syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ROBINOW SYNDROME

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

High match NAGER SYNDROME

Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

NAGER SYNDROME Is also known as afd, nager type|mandibulofacial dysostosis, treacher collins type, with limb anomalies|preaxial acrodysostosis|nager acrofacial dysostosis|nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|nafd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NAGER SYNDROME

High match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Tetralogy of Fallot

Symptoms // Phenotype % cases
Ventricular septal defect Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Downslanted palpebral fissures and Tetralogy of Fallot. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Brachydactyly

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect Epicanthus Generalized hypotonia Hydronephrosis Short nose Prominent forehead Abnormality of cardiovascular system morphology Patent ductus arteriosus Ptosis Hearing impairment Cleft palate High forehead Finger syndactyly Hypospadias Scoliosis Seizures Short neck Intrauterine growth retardation Pulmonic stenosis Failure to thrive Prominent nasal bridge Clinodactyly of the 5th finger Hernia Short philtrum Deeply set eye High palate Brachycephaly Pectus excavatum Oral cleft Delayed speech and language development Feeding difficulties Cleft lip Muscular hypotonia Congenital diaphragmatic hernia Proptosis Hypoplastic left heart Long philtrum Pulmonary artery stenosis Broad hallux phalanx Midface retrusion Dilatation Wide nose Clinodactyly Broad forehead Low-set, posteriorly rotated ears Abnormal cardiac septum morphology Neurological speech impairment Abnormality of the skeletal system Unilateral renal agenesis Abnormal heart morphology Abnormality of the kidney Behavioral abnormality Toe syndactyly Syndactyly Upslanted palpebral fissure Wide mouth

Rare Symptoms - Less than 30% cases

Anteverted nares Depressed nasal ridge Coloboma Diarrhea Fine hair Immunodeficiency Postnatal growth retardation Sparse hair Abnormality of the liver Elevated hepatic transaminase Jaundice Posteriorly rotated ears Premature birth Bifid uvula Microtia Abnormality of the pinna Hepatic failure Cirrhosis Agenesis of corpus callosum Delayed puberty Macrotia Anal atresia Ventriculomegaly Hemivertebrae Posterior embryotoxon Split hand Specific learning disability Hypoplasia of penis Hypodontia Short distal phalanx of finger Double outlet right ventricle Gastrointestinal hemorrhage Pectus carinatum Camptodactyly of finger Recurrent respiratory infections Multicystic kidney dysplasia Anxiety Mandibular prognathia Intellectual disability, severe Macrocephaly Alopecia Abnormal palate morphology Humoral immunodeficiency Mesomelia Vertebral segmentation defect Abnormality of the hip bone Inguinal hernia Peripheral pulmonary artery stenosis Kyphosis Abnormality of the genitourinary system Ectopic anus Velopharyngeal insufficiency Abnormal tricuspid valve morphology Pain Hepatomegaly Long palpebral fissure Cleft upper lip Conductive hearing impairment Preauricular skin tag Hydrocephalus Atrioventricular canal defect Aganglionic megacolon Congestive heart failure Craniosynostosis Pointed chin Hallux valgus Intellectual disability, mild Skeletal dysplasia Camptodactyly Aortic valve stenosis Umbilical hernia Aplasia/Hypoplasia of the cerebellum Attention deficit hyperactivity disorder Poor speech Thin vermilion border Tapered finger Abnormal aortic morphology External ear malformation Broad thumb Transposition of the great arteries Round face Everted lower lip vermilion Short toe Broad eyebrow Absent speech Broad nasal tip Stereotypy Drooling Ectopic kidney Iris coloboma Talipes equinovarus Coarctation of aorta Heart murmur Atrioventricular block Finger clinodactyly Vesicoureteral reflux Generalized muscle hypertrophy Hip dislocation Polymicrogyria Joint stiffness Postural instability Optic atrophy Uplifted earlobe Pulmonary artery sling Cerebellar hypoplasia Abnormal eye morphology Abnormal morphology of the hippocampus Large basal ganglia Respiratory distress Glaucoma Gastroesophageal reflux Feeding difficulties in infancy Retrognathia Aplasia/Hypoplasia of the cerebral white matter Malar flattening High, narrow palate Respiratory insufficiency Flexion contracture Dental malocclusion Hypoplasia of first ribs Decreased antibody level in blood Absent radius Aplasia/Hypoplasia of the radius Hypoplasia of the radius Atresia of the external auditory canal Radioulnar synostosis Urticaria Facial cleft Triphalangeal thumb Hypoplasia of the zygomatic bone Radial deviation of finger Overlapping toe Aplasia/Hypoplasia of the thumb Spastic diplegia Broad hallux Aplasia/Hypoplasia of the eyebrow Limited elbow extension Non-midline cleft lip Short thumb Trismus Sparse lower eyelashes Hypoplasia of the epiglottis Lower eyelid coloboma Absent toe Hypoplasia of the maxilla Short distal phalanx of the thumb Laryngeal hypoplasia Absent thumb Hemiparesis Hemifacial hypoplasia Foot oligodactyly Abnormality of the lower limb Mandibulofacial dysostosis Abnormality of the cervical spine Abnormal nasal morphology Gastroschisis Phocomelia Choanal atresia Aqueductal stenosis Bicornuate uterus Intestinal malrotation Delayed skeletal maturation Growth hormone deficiency Hypercholesterolemia Keratoconus Telangiectasia of the skin Prolonged neonatal jaundice Long nose Chorioretinal atrophy Malnutrition Hypoplasia of the ulna Glomerulosclerosis Portal hypertension Renal hypoplasia/aplasia Corneal dystrophy Spina bifida occulta Abnormality of the ureter Abnormal vertebral morphology Lymphedema Exotropia Renal dysplasia Abnormal form of the vertebral bodies Cholestasis Hypertriglyceridemia Renal hypoplasia Nephrotic syndrome Abnormality of the ribs Pigmentary retinopathy Renal tubular acidosis Exocrine pancreatic insufficiency Triangular face Biliary atresia Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Abnormal anterior chamber morphology Hepatocellular carcinoma Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Coronal craniosynostosis Abnormality of the vasculature Dilatation of the cerebral artery Prominent nose Microcornea Renal agenesis Congenital glaucoma Aplasia/Hypoplasia of the nipples Abnormal mitral valve morphology Hypoplastic fingernail Mitral stenosis Communicating hydrocephalus Enlarged cisterna magna Single umbilical artery Missing ribs Pierre-Robin sequence Adrenal hypoplasia Narrow nasal bridge Prominent occiput Lethal skeletal dysplasia Abnormality of neuronal migration Chorioretinal coloboma Hand polydactyly Abnormality of the hand Narrow palate Wormian bones Horseshoe kidney Large fontanelles Cerebellar vermis hypoplasia Low posterior hairline Limb undergrowth Dandy-Walker malformation Complete atrioventricular canal defect Abnormality of the fontanelles or cranial sutures Hypopigmentation of the skin Coarse facial features Flat face Abnormality of skin pigmentation Stage 5 chronic kidney disease Malabsorption Pruritus Stroke Retinopathy Scarring Protruding ear Carcinoma Hepatosplenomegaly Acidosis Posterior fossa cyst Happy demeanor Areflexia Visual loss Renal insufficiency Myopia Hypertension Cataract Neoplasm Primum atrial septal defect Cerebellar malformation Facial hemangioma Contractures of the large joints Atypical absence seizures Nevus flammeus Deep plantar creases Pancytopenia Abnormality of the immune system Brittle hair Hypoalbuminemia Recurrent upper respiratory tract infections Leukopenia Aortic regurgitation Abnormality of the hair Hepatic fibrosis Chronic diarrhea Aciduria Iron deficiency anemia Sepsis Dry skin Small for gestational age Respiratory tract infection Polyhydramnios Narrow mouth Osteoporosis Thrombocytopenia Edema Curly hair Underdeveloped supraorbital ridges Cognitive impairment Hypergalactosemia Apnea Autism Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Galactosuria Hypermethioninemia Renal cortical microcysts Increased serum iron Secretory diarrhea Thrombocytosis Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Abnormal thrombocyte morphology Abnormality of the pancreas Villous atrophy Large forehead Woolly hair Anemia Female pseudohermaphroditism Thick vermilion border Echolalia Full cheeks Hypertrophic cardiomyopathy Pes planus Weight loss Obesity Severe receptive language delay Self-biting Severe expressive language delay Abnormality of brain morphology Gonadal dysgenesis Proximal placement of thumb Neurodevelopmental delay 2-3 toe syndactyly Precocious puberty Joint hypermobility Synophrys Autistic behavior Aggressive behavior Hyperactivity Hypogonadism Wide intermamillary distance Biparietal narrowing Dimple chin Preauricular pit Advanced eruption of teeth Abnormality of the helix Widow's peak Lipoma Sprengel anomaly Shawl scrotum Natal tooth Broad palm High hypermetropia Bilateral cryptorchidism Enlarged thorax Deep philtrum Short chin Omphalocele Highly arched eyebrow Thick eyebrow Hypermetropia Joint laxity Thin upper lip vermilion Arrhythmia Smooth philtrum Situs inversus totalis Subglottic stenosis Otitis media Postnatal microcephaly Abnormality of the genital system Recurrent otitis media Open mouth Sparse scalp hair Sloping forehead Dehydration Febrile seizures Focal-onset seizure Esotropia Cutaneous syndactyly Brain atrophy Abdominal distention Delayed eruption of teeth Falls Abnormality of the cerebral white matter Telecanthus Cerebral cortical atrophy Constipation Depressivity Absence seizures Widely spaced teeth Vomiting Low hanging columella Prominent nasal tip Esodeviation Broad columella Large earlobe Bruxism Abnormality of the gastrointestinal tract Tracheal stenosis Misalignment of teeth Chronic constipation Abnormal eyebrow morphology Aplasia/Hypoplasia of the corpus callosum Drowsiness Submucous cleft hard palate Supernumerary nipple Rocker bottom foot Cupped ear Bifid scrotum Sparse eyebrow Pyloric stenosis Poor suck Microphthalmia Hypoplasia of the corpus callosum Narrow face Interrupted aortic arch Subependymal cysts Aplasia/Hypoplasia of the thymus Displacement of the external urethral meatus Persistent left superior vena cava Common atrium Anterior creases of earlobe Urethral stenosis Total anomalous pulmonary venous return Abnormality of the pharynx Heterotaxy Abnormality of the dentition Anomalous pulmonary venous return Abdominal situs inversus Dyslexia Abnormality of immune system physiology Obsessive-compulsive behavior Stridor Nasal speech Laryngomalacia Sleep apnea Bilateral trilobed lungs Downturned corners of mouth Fever Synostosis of carpal bones Motor delay Nystagmus Hypoplastic female external genitalia Exaggerated cupid's bow Abnormal pulmonary valve morphology Fingernail dysplasia Ankyloglossia Rib fusion Bifid tongue Increased number of teeth Blue sclerae Open bite Chronic otitis media Elbow dislocation Disproportionate short-limb short stature Tented upper lip vermilion Sacral dimple Sandal gap Bilateral single transverse palmar creases Gingival overgrowth Long eyelashes Butterfly vertebral arch


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