Downslanted palpebral fissures, and Situs inversus totalis

Diseases related with Downslanted palpebral fissures and Situs inversus totalis

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


Top matches:

High match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

High match 22Q11.2 MICRODUPLICATION SYNDROME


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

High match RESTRICTIVE DERMOPATHY


Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) (see these terms) and pulmonary hypoplasia without neurological abnormalities.

RESTRICTIVE DERMOPATHY Is also known as fetal hypokinesia sequence due to restrictive dermopathy|hyperkeratosis-contracture syndrome|lethal restrictive dermopathy|tight skin contracture syndrome, lethal|tight skin contracture syndrome

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RESTRICTIVE DERMOPATHY

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Other less relevant matches:

High match CARPENTER SYNDROME


Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARPENTER SYNDROME

High match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

High match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

High match CATEL-MANZKE SYNDROME


Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

CATEL-MANZKE SYNDROME Is also known as index finger anomaly-pierre robin syndrome|index finger anomaly with pierre robin syndrome|pierre robin syndrome-hyperphalangy-clinodactyly syndrome|micrognathia digital syndrome|palatodigital syndrome, catel-manzke type|pierre robin syndrome with hyperph

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATEL-MANZKE SYNDROME

Medium match MARDEN-WALKER SYNDROME


Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Medium match ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS


Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow SyndromeSee also autosomal dominant Robinow syndrome-1 (DRS1 ), caused by mutation in the WNT5A gene (OMIM ) on chromosome 3p; DRS2 (OMIM ), caused by mutation in the DVL1 gene (OMIM ) on chromosome 1p36; and DRS3 (OMIM ), caused by mutation in the DVL3 gene (OMIM ) on chromosome 3q27.

ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS Is also known as costovertebral segmentation defect with mesomelia, formerly|covesdem syndrome, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS

Medium match OCULOFACIOCARDIODENTAL SYNDROME


Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.

OCULOFACIOCARDIODENTAL SYNDROME Is also known as oculofaciocardiodental syndrome|anop2, formerly|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|microphthalmia, cataracts, radiculomegaly, and septal heart defects|maa2, formerly|ofcd syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOFACIOCARDIODENTAL SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Situs inversus totalis

Symptoms // Phenotype % cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Downslanted palpebral fissures and Situs inversus totalis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of cardiovascular system morphology

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Dextrocardia

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Hearing impairment Pectus excavatum Talipes equinovarus Long philtrum Failure to thrive Posteriorly rotated ears Microcephaly Seizures Hypospadias Retrognathia Short neck Hydronephrosis Severe short stature Clinodactyly of the 5th finger Intellectual disability, severe Sensorineural hearing impairment Brachydactyly Epicanthus Abnormal heart morphology Narrow mouth Camptodactyly Abnormality of the pinna Flexion contracture Micropenis Transposition of the great arteries Upslanted palpebral fissure Umbilical hernia Camptodactyly of finger Abnormal cardiac septum morphology Postnatal growth retardation Pulmonary hypoplasia Blepharophimosis Submucous cleft hard palate Patent ductus arteriosus Narrow face Clinodactyly Short nose Strabismus Double outlet right ventricle Wide nasal bridge Kyphoscoliosis Abnormality of the skeletal system Anteverted nares Pectus carinatum Highly arched eyebrow Anal atresia Generalized hypotonia Iris coloboma Polyhydramnios Coloboma Feeding difficulties Muscular hypotonia Ptosis Inguinal hernia Microphthalmia High, narrow palate Depressed nasal bridge Malar flattening Intestinal malrotation Hypoplasia of the maxilla Wide anterior fontanel Joint stiffness Midface retrusion

Rare Symptoms - Less than 30% cases


Renal hypoplasia Fixed facial expression Ventriculomegaly Anteverted ears Thin eyebrow Septate vagina Increased number of teeth Joint contracture of the hand Cataract Pulmonic stenosis Frontal bossing Thin upper lip vermilion Ankylosis Syndactyly Skeletal muscle atrophy Small face Intellectual disability, mild Dental malocclusion Hernia Congenital contracture Brachycephaly Abnormality of the dentition Single transverse palmar crease Decreased body weight Oligodontia Joint laxity Hypothyroidism Talipes Alopecia Hydroureter Delayed skeletal maturation Long face Proptosis Edema Protruding ear Anemia Motor delay Hypoplasia of the corpus callosum Bifid uvula Hypoplastic nipples Renal agenesis External genital hypoplasia Broad thumb Radioulnar synostosis Genu valgum Toe syndactyly Delayed eruption of teeth Diabetes mellitus Arachnodactyly Interphalangeal joint contracture of finger Specific learning disability Sparse hair Nasal speech Behavioral abnormality Delayed speech and language development Mandibular prognathia Short palpebral fissure Anxiety Attention deficit hyperactivity disorder Heterotaxy Arthrogryposis multiplex congenita Wide nose Webbed neck Tetralogy of Fallot Respiratory distress Agenesis of corpus callosum Abnormality of the genitourinary system Pyloric stenosis Oral synechia Finger clinodactyly Short toe Broad nasal tip Hammertoe Abnormality of epiphysis morphology Small nail Hypertrichosis Narrow palpebral fissure Coarctation of aorta Full cheeks Radial deviation of the 2nd finger Short distal phalanx of finger Ulnar deviation of the 2nd finger Anophthalmia Joint dislocation Chronic otitis media Adducted thumb Cubitus valgus Aortic valve stenosis Spastic paraparesis Prominent antihelix Knee dislocation Abnormal palate morphology Metatarsus valgus Ectopia lentis Overriding aorta Ankyloglossia Short thumb Short hallux Pierre-Robin sequence Exotropia Mitral valve prolapse Short humerus Cystic hygroma Heart murmur Short middle phalanx of finger Glossoptosis Hypoplastic labia majora Cleft upper lip Decreased testicular size Failure to thrive in infancy Poor suck Cachexia Abnormality of the hair Peripheral pulmonary artery stenosis Hand clenching Persistence of primary teeth Abnormality of the ribs Single median maxillary incisor Remnants of the hyaloid vascular system Chorioretinal coloboma Prominent nose Phthisis bulbi Asymmetry of the ears Transverse vaginal septum Triangular face Fused teeth Multiple unerupted teeth Flexion contracture of the 4th toe Bulbous nose Flexion contracture of the 2nd toe Bifid nasal tip Cupped ear 2-3 toe syndactyly Moderately short stature Joint hyperflexibility Low-set, posteriorly rotated ears Adrenal insufficiency Broad palm Abnormal hair laboratory examination Decreased head circumference Narrow foot Round ear Phimosis Macrodontia Mild short stature Misalignment of teeth Broad columella Asplenia Abnormality of the rib cage Abnormality of the thumb Sparse lateral eyebrow Sprengel anomaly Prominent metopic ridge High hypermetropia Spastic diplegia Hyperphalangy of the 2nd finger Hydrocephalus Microcornea Abnormal anatomic location of the heart Flat face Confusion Delayed eruption of permanent teeth Wide mouth Hepatosplenomegaly Skeletal dysplasia Abdominal pain Macrocephaly Pain Paraplegia Small hand Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the penis Abnormality of the cerebellar vermis Congenital ptosis Limb joint contracture Epispadias Primitive reflex Abnormality of the upper urinary tract Colpocephaly Short palm Hypodontia Restlessness Radial deviation of finger Thoracolumbar scoliosis Bifid tongue Nevus flammeus Rib fusion Long palpebral fissure Vertebral fusion Mesomelia Vaginal atresia Delayed cranial suture closure Disproportionate short-limb short stature Macroglossia Hemivertebrae Abnormal vertebral morphology Gingival overgrowth Short middle phalanx of the 5th finger Long eyelashes Dental crowding Ambiguous genitalia Limb undergrowth Nail dysplasia Normocytic anemia Distal arthrogryposis Absent septum pellucidum Retinal detachment Congenital cataract Multicystic kidney dysplasia Abnormality of the face Renal dysplasia Abnormal form of the vertebral bodies Peripheral demyelination Dandy-Walker malformation Deeply set eye Feeding difficulties in infancy Prominent nasal bridge Muscular dystrophy Abnormality of the urinary system Respiratory tract infection Abnormality of the kidney Aggressive behavior Hyperactivity Cerebellar hypoplasia Areflexia Kyphosis Myopathy Missing ribs Thick eyebrow Renal hypoplasia/aplasia Glaucoma Clitoral hypoplasia Decreased muscle mass Renal duplication Triangular mouth Mesomelic short stature Broad toe Abnormality of the sternum Forearm undergrowth Aplasia/Hypoplasia involving the metacarpal bones Thoracic hemivertebrae Hypoplastic sacrum Absent uvula Myotonia Duplication of the distal phalanx of hand Bifid distal phalanx of toe Right ventricular outlet obstruction Metatarsus adductus Right atrial isomerism Mask-like facies Cervical agenesis Vomiting Hypoplasia of the brainstem Visual loss Aplasia/Hypoplasia involving the skeletal musculature Sparse scalp hair Hypermetropia Aplasia/Hypoplasia of the eyebrow Decreased skull ossification Trismus Adrenal hypoplasia Absent eyelashes Abnormality of the vasculature Severe intrauterine growth retardation Parakeratosis Aplasia cutis congenita Natal tooth Thin ribs Multiple joint contractures Ureteral duplication Rocker bottom foot Ectropion Scaling skin Sparse eyebrow Dermal atrophy Sparse eyelashes Large fontanelles Choanal atresia Decreased fetal movement Abnormality of the skin Entropion Skin erosion Telecanthus Premature rupture of membranes Abnormal cellular phenotype Epidermal hyperkeratosis Gastrointestinal atresia Short umbilical cord Large placenta Small placenta Temporomandibular joint ankylosis Thin clavicles Aplasia/Hypoplasia of the clavicles Decreased calvarial ossification Congenital pseudoarthrosis of the clavicle Ascending tubular aorta aneurysm Aplasia/Hypoplasia involving the nose Congenital adrenal hypoplasia Stiff skin Microcolon Widely patent fontanelles and sutures Thoracic kyphoscoliosis Generalized hyperkeratosis Short nail Sparse or absent eyelashes Narrow nasal ridge Dermal translucency Premature birth Osteopenia Prominent superficial blood vessels Hypoplasia of the epiglottis Neurological speech impairment Apnea High forehead Autism Prominent forehead Synotia Aglossia Proboscis Alobar holoprosencephaly Laryngeal hypoplasia Mandibular aplasia Smooth philtrum Hyperplasia of the maxilla Stenosis of the external auditory canal Microglossia Tracheomalacia Atresia of the external auditory canal Abnormality of the outer ear Holoprosencephaly Hypotelorism Abnormality of the eye Conductive hearing impairment Poor speech Thick vermilion border Hyperkeratosis Abnormality of the pharynx Bilateral trilobed lungs Subependymal cysts Aplasia/Hypoplasia of the thymus Displacement of the external urethral meatus Persistent left superior vena cava Common atrium Anterior creases of earlobe Velopharyngeal insufficiency Urethral stenosis Total anomalous pulmonary venous return Interrupted aortic arch Gastrointestinal hemorrhage Anomalous pulmonary venous return Abdominal situs inversus Dyslexia Abnormality of immune system physiology Hypoplastic left heart Obsessive-compulsive behavior Stridor Laryngomalacia Sleep apnea Stereotypy Depressed nasal ridge Overtubulated long bones Structural foot deformity Spastic paraplegia Steatorrhea Abnormal hair pattern Calvarial skull defect Fair hair Exocrine pancreatic insufficiency Anal stenosis Facial cleft Hypopituitarism Anteriorly placed anus Glycosuria Agenesis of permanent teeth Congenital sensorineural hearing impairment Rectovaginal fistula Clitoral hypertrophy Portal hypertension Widely spaced teeth Severe muscular hypotonia Hyperbilirubinemia Pointed chin Hypocalcemia Abnormality of the nail Cafe-au-lait spot Cholestasis Hypoproteinemia Abnormality of the pancreas Microdontia Urethrovaginal fistula Short philtrum Abnormality of the nervous system Macrotia Pes cavus Cerebral atrophy Blindness Hyperreflexia Spasticity Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Abnormality of the female genitalia Lacrimation abnormality Malrotation of small bowel Anasarca Absent lacrimal punctum Increased VLDL cholesterol concentration Colonic diverticula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Hypoplasia of penis Convex nasal ridge Premature delivery because of cervical insufficiency or membrane fragility Narrow palate Abnormality of the skull Turricephaly Shawl scrotum Cutaneous finger syndactyly Supernumerary nipple Bilateral cryptorchidism Trigonocephaly Preaxial polydactyly Cutis laxa Coxa vara Sparse and thin eyebrow Preaxial foot polydactyly Postaxial hand polydactyly Wide intermamillary distance Postaxial polydactyly Finger syndactyly Craniosynostosis Polydactyly Obesity Increased anterioposterior diameter of thorax Hydropic placenta Aplasia/Hypoplastia of the eccrine sweat glands Polysplenia Cloverleaf skull Growth hormone deficiency Cleft lip Underdeveloped nasal alae Generalized muscle weakness Abdominal distention Downturned corners of mouth Hepatic failure Malabsorption Hypotrichosis Dilated cardiomyopathy Small for gestational age Abnormality of the liver Elevated hepatic transaminase Oxycephaly Dilatation Cardiomyopathy Fatigue Hepatomegaly Hypertension Cognitive impairment Abnormal reproductive system morphology Aplasia of the middle phalanx of the hand Narrow naris Diaphragmatic eventration Abnormal cornea morphology Laterally curved eyebrow



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Toe syndactyly, related diseases and genetic alterations

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