Epicanthus, and Autism

Diseases related with Epicanthus and Autism

In the following list you will find some of the most common rare diseases related to Epicanthus and Autism that can help you solving undiagnosed cases.

Top matches:

Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as dias-logan syndrome|intellectual developmental disorder with hereditary persistence of fetal hemoglobin

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Strabismus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Other less relevant matches:

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

XQ25 MICRODUPLICATION SYNDROME Is also known as xq25 microtriplication|dup(x)(q25)

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about XQ25 MICRODUPLICATION SYNDROME

MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Top 5 symptoms//phenotypes associated to Epicanthus and Autism

Symptoms // Phenotype % cases
Autistic behavior Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Autism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Motor delay Seizures High palate Feeding difficulties Hypoplasia of the corpus callosum Scoliosis Microtia Posteriorly rotated ears Behavioral abnormality Thick vermilion border Anxiety Hyperactivity Obsessive-compulsive behavior Cryptorchidism Frontal bossing Thin upper lip vermilion

Rare Symptoms - Less than 30% cases

Prominent nasal bridge Short palm Long face Malar flattening Craniosynostosis Ptosis Vesicoureteral reflux Aggressive behavior Blepharophimosis Constipation Cerebellar vermis hypoplasia Anteverted nares Growth delay Attention deficit hyperactivity disorder Failure to thrive Pes planus Micrognathia Gastroesophageal reflux Myopia Hyperlordosis Highly arched eyebrow Macrocephaly Midface retrusion Joint laxity Depressed nasal bridge Absent speech Thick eyebrow Joint hypermobility Brachycephaly Downslanted palpebral fissures Ventriculomegaly Hearing impairment Osteopenia Skeletal dysplasia Platyspondyly Short metacarpal Coxa vara Increased body weight Delayed skeletal maturation Tented upper lip vermilion Rocker bottom foot Overlapping toe Short femoral neck Femoral bowing Severe short stature Microtia, first degree Short nose Broad nasal tip Brachydactyly Abnormality of the skeletal system Diarrhea Kyphosis Upslanted palpebral fissure Narrow mouth Telecanthus Cerebellar atrophy Otitis media Short neck Hypertrichosis Recurrent otitis media Hoarse voice Pointed chin Toe walking Hyperventilation Thoracolumbar scoliosis Tall chin Slender long bone Spondyloepimetaphyseal dysplasia Delayed epiphyseal ossification Deep philtrum Recurrent urinary tract infections Narrow face Spina bifida Horseshoe kidney Spina bifida occulta Abnormality of the urinary system Chronic kidney disease Ectopic kidney Renal hypoplasia Poor eye contact Thickened helices Hyperechogenic kidneys Anteverted ears Uterus didelphys Hypoplastic helices Urethral valve Bifid ureter Renal dysplasia Oligohydramnios Beaking of vertebral bodies Respiratory insufficiency Small epiphyses Narrow pelvis bone Short fourth metatarsal Proximal femoral epiphysiolysis Skull asymmetry Thoracic platyspondyly Distal femoral bowing Wide nasal bridge Renal insufficiency Ambiguous genitalia Dilatation Micropenis Abnormality of the nervous system Abnormality of the kidney Abnormal cardiac septum morphology Poor speech Stage 5 chronic kidney disease Renal agenesis Flexion contracture Postnatal growth retardation Broad eyebrow Cleft palate Polyphagia Narrow nose Misalignment of teeth Intellectual disability, mild Cerebellar hypoplasia Anemia Mandibular prognathia Broad forehead Round face Smooth philtrum Short distal phalanx of finger Tall stature Sleep disturbance Febrile seizures Gingival overgrowth Widely spaced teeth Microretrognathia Full cheeks Sparse eyebrow Muscular hypotonia Bifid uvula Long eyelashes Brittle hair Flat occiput Increased number of teeth Bilateral conductive hearing impairment Nystagmus Abnormality of the pinna Tapered finger Abnormality of cardiovascular system morphology Obesity Clinodactyly of the 5th finger Macrotia EEG abnormality Conductive hearing impairment Bulbous nose Short foot Schizophrenia Facial asymmetry Cerebral visual impairment Intrauterine growth retardation Thick lower lip vermilion Postnatal microcephaly Stereotypy Self-injurious behavior Everted lower lip vermilion Visual impairment Dysarthria Optic atrophy Hypotelorism Ventricular septal defect Microphthalmia Hypospadias Abnormal heart morphology Low-set, posteriorly rotated ears Single transverse palmar crease Coloboma Retrognathia Short palpebral fissure Underdeveloped nasal alae Neurodevelopmental delay Gait disturbance Long nose Facial hypotonia Abnormality of the foot Ataxia Proptosis Spasticity Immunodeficiency Hypertonia Abnormal cerebellum morphology Gait ataxia Cupped ear Developmental regression Overfolded helix Wide mouth Blue sclerae Short philtrum Pectus carinatum Decreased numbers of nephrons


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Tapered finger, related diseases and genetic alterations Strabismus and Hypertonia, related diseases and genetic alterations Cataract and Tetraparesis, related diseases and genetic alterations Abnormal facial shape and Conductive hearing impairment, related diseases and genetic alterations Scoliosis and Pectus carinatum, related diseases and genetic alterations Scoliosis and Arthritis, related diseases and genetic alterations