Downslanted palpebral fissures, and Aggressive behavior

Diseases related with Downslanted palpebral fissures and Aggressive behavior

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38


MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

High match MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME


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

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Other less relevant matches:

High match KLEEFSTRA SYNDROME 2; KLEFS2


Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

High match INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME


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

High 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

High match LENNOX-GASTAUT SYNDROME


Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

High match LUSCAN-LUMISH SYNDROME; LLS


Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015)

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LUSCAN-LUMISH SYNDROME; LLS

High match INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME


Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

High match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Aggressive behavior

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hyperactivity

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Behavioral abnormality Absent speech Broad nasal tip Hypertelorism Macrocephaly High palate Synophrys Abnormal facial shape Thick eyebrow Short nose Strabismus Ptosis Attention deficit hyperactivity disorder Feeding difficulties High forehead Stereotypy Anxiety Prominent forehead Autism Autistic behavior Epicanthus Low-set ears Generalized tonic-clonic seizures Deeply set eye Obesity Thin upper lip vermilion

Rare Symptoms - Less than 30% cases


Failure to thrive Kyphosis Downturned corners of mouth Long face Brachycephaly Cerebral atrophy Highly arched eyebrow Dysphagia Nystagmus Smooth philtrum Intellectual disability, severe Hydrocephalus Broad forehead Poor speech Macrotia Drooling Pes planus Relative macrocephaly 2-3 toe syndactyly Low anterior hairline Speech apraxia Cryptorchidism Depressed nasal bridge Brachydactyly Everted lower lip vermilion Upslanted palpebral fissure Tented upper lip vermilion Malar flattening Clinodactyly Clinodactyly of the 5th finger Ventriculomegaly Intellectual disability, moderate Mandibular prognathia Retrognathia Polyphagia Short philtrum Abnormal cardiac septum morphology Wide nasal bridge Pointed chin Short stature Frontal bossing Overgrowth Wide mouth Abnormality of the pinna Hirsutism Recurrent otitis media Arnold-Chiari malformation Dilatation Polycystic ovaries Coloboma Atrial septal defect Gait disturbance Cerebellar hypoplasia Constipation Long foot Slurred speech Myopia Dysarthria Progressive macrocephaly Large hands Advanced ossification of carpal bones Shyness EEG with focal sharp slow waves Syringomyelia Arnold-Chiari type I malformation Menstrual irregularities High anterior hairline Long nose Recurrent infections Bulbous nose Short phalanx of finger Short distal phalanx of finger Thick vermilion border Tapered finger Hypodontia Syncope Dental crowding Abnormality of the hand Gait ataxia Obsessive-compulsive behavior Absent radius Ventricular extrasystoles Abnormality of finger Mild global developmental delay Obsessive-compulsive trait Hyperacusis Facial asymmetry Pectus excavatum Intestinal malrotation Volvulus Wide intermamillary distance High myopia Broad thumb Long eyelashes Slender finger Single umbilical artery Cavum septum pellucidum Frontotemporal cerebral atrophy Diastema Unilateral cryptorchidism Micrognathia Motor delay Hyperreflexia Abnormality of the skeletal system Long philtrum CNS infection Joint hypermobility Atypical absence seizures Irritability Coarse facial features Developmental regression Dandy-Walker malformation Cerebellar vermis hypoplasia Mild microcephaly Duplication of thumb phalanx Delayed myelination Scoliosis Apraxia Open mouth Delayed gross motor development Language impairment Delayed ability to walk Large forehead Midface retrusion Scaphocephaly Ventricular septal defect Overweight Neonatal hypotonia Dolichocephaly Wide nose Prominent nose Short chin Truncal obesity Broad eyebrow Microretrognathia Long eyebrows Pneumonia Hepatosplenomegaly Craniosynostosis Recurrent pneumonia Finger clinodactyly Growth delay Talipes equinovarus Personality disorder Epileptic encephalopathy Gastroesophageal reflux EEG abnormality Mental deterioration Falls Generalized myoclonic seizures Focal-onset seizure Gingival overgrowth Posteriorly rotated ears Intellectual disability, progressive Atonic seizures Abnormality of the periventricular white matter Enlarged cisterna magna Generalized tonic seizures Abnormality of brainstem morphology Myoclonus Recurrent respiratory infections Hernia Gonadal dysgenesis Hypogonadism Low-set, posteriorly rotated ears Tetralogy of Fallot Precocious puberty Unilateral renal agenesis Neurodevelopmental delay Echolalia Encephalopathy Abnormality of brain morphology Severe expressive language delay Self-biting Severe receptive language delay Hypoplasia of the corpus callosum Abnormality of the dentition Aplasia of the 1st metacarpal



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 Small for gestational age, related diseases and genetic alterations Brachydactyly and Intestinal malrotation, related diseases and genetic alterations Peripheral neuropathy and Omphalocele, related diseases and genetic alterations Hypertelorism and Feeding difficulties in infancy, related diseases and genetic alterations Sensorineural hearing impairment and Ventricular hypertrophy, related diseases and genetic alterations High palate and Broad nasal tip, related diseases and genetic alterations

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