Downslanted palpebral fissures, and Anteverted nares

Diseases related with Downslanted palpebral fissures and Anteverted nares

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

Top matches:

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Other less relevant matches:

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Anteverted nares

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short nose Strabismus Macrocephaly High palate Broad nasal tip Hypoplasia of the corpus callosum Microcephaly Seizures Wide nasal bridge Depressed nasal bridge Frontal bossing Muscular hypotonia Long philtrum Bulbous nose Open mouth Delayed myelination Poor speech Sparse hair Arachnodactyly Failure to thrive Prominent forehead Broad forehead Absent speech Inability to walk Low-set ears Myopia

Rare Symptoms - Less than 30% cases

Proptosis High forehead Postnatal microcephaly Tented upper lip vermilion Hearing impairment Feeding difficulties Malar flattening Upslanted palpebral fissure Thin vermilion border Craniosynostosis Thick vermilion border Long toe Fine hair Low-set, posteriorly rotated ears Delayed ability to walk Anxiety Hyperactivity Aggressive behavior Delayed gross motor development Intellectual disability, severe Language impairment Stereotypy Retrognathia Wide mouth Nystagmus Delayed speech and language development Smooth philtrum Muscular hypotonia of the trunk Cerebral cortical atrophy Behavioral abnormality Generalized tonic-clonic seizures Abnormality of the pinna Babinski sign Pectus carinatum Obesity Hypertonia Triangular face Abnormality of the skeletal system Skeletal muscle atrophy Blepharophimosis Hyperreflexia Joint hypermobility Elbow ankylosis Visual impairment Ventriculomegaly Hydrocephalus Pectus excavatum Agenesis of corpus callosum Facial asymmetry Autism Spasticity Plagiocephaly Broad hallux Prominent metopic ridge Facial hypotonia Abnormal hair whorl Abnormality of the orbital region Deviation of the 5th finger Narrow forehead Brain atrophy CNS hypomyelination Progressive microcephaly Abnormality of the metaphysis Renal insufficiency Midface retrusion Patent ductus arteriosus Proteinuria Stage 5 chronic kidney disease Hematuria Tapered finger Abnormality of the hair Ulnar deviation of the hand Nephritis Glomerulopathy Increased number of teeth Microscopic hematuria Abnormal aortic valve morphology Elliptocytosis Craniopharyngioma Sensorineural hearing impairment Severe postnatal growth retardation Leukodystrophy Postnatal growth retardation Mutism Abnormal renal morphology Overfolded helix Global brain atrophy Scoliosis Growth delay Pes planus Prominent nasal bridge Disproportionate tall stature Severe global developmental delay Everted lower lip vermilion Highly arched eyebrow Tall stature Dental crowding Short chin Trigonocephaly Hypoplasia of the brainstem Narrow pelvis bone Delayed cranial suture closure Hypoplasia of the zygomatic bone Infantile muscular hypotonia Acidosis Lactic acidosis Hepatic failure Relative macrocephaly Metabolic acidosis Underdeveloped nasal alae Aciduria Drooling Dystonia Adducted thumb Clinodactyly Clinodactyly of the 5th finger Pneumonia Mandibular prognathia Hepatosplenomegaly Apraxia Microphthalmia Large forehead Finger clinodactyly Tics Hypermetropia Astigmatism Narrow palpebral fissure Long fingers Long palpebral fissure Self-mutilation Fair hair Neonatal hypotonia Speech apraxia Inappropriate laughter Deeply set eye Thin upper lip vermilion Cataract Motor delay Epicanthus Pain Recurrent pneumonia Microretrognathia Turricephaly Camptodactyly of finger Arthropathy Neuropathic arthropathy Cleft palate Abnormality of cardiovascular system morphology Brachycephaly Narrow mouth Joint stiffness Narrow chest Absent eyebrow Talipes Recurrent fractures Abnormality of the ribs Choanal atresia Short philtrum Femoral bowing Underdeveloped supraorbital ridges Curly hair Sparse eyebrow Scaphocephaly Atrial septal defect Short stature Ptosis Attention deficit hyperactivity disorder Peripheral neuropathy Irritability Short neck Cardiomyopathy Posteriorly rotated ears Bilateral ptosis Hyperkeratosis Intellectual disability, moderate Coarse facial features Pulmonic stenosis Peripheral axonal neuropathy Ichthyosis Mitral valve prolapse Hemangioma Erythrocyte cylindruria


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