Epicanthus, and Highly arched eyebrow

Diseases related with Epicanthus and Highly arched eyebrow

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

Top matches:

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

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

High match 3MC SYNDROME

3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC SYNDROME

Other less relevant matches:

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

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 3; JBTS3

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHASHI-PENA SYNDROME; SHAPNS

Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Top 5 symptoms//phenotypes associated to Epicanthus and Highly arched eyebrow

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Low-set ears 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
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Highly arched eyebrow. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Abnormal facial shape Delayed speech and language development Wide nasal bridge Microcephaly Smooth philtrum Frontal bossing Anteverted nares Thin upper lip vermilion Behavioral abnormality Cerebellar vermis hypoplasia Feeding difficulties Downturned corners of mouth Absent speech Scoliosis Nystagmus Ataxia Downslanted palpebral fissures Posteriorly rotated ears Micrognathia Short philtrum Autistic behavior Short stature Abnormality of the pinna High palate Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Intellectual disability, severe Broad nasal tip Widely spaced teeth Growth delay Open mouth Failure to thrive Spasticity Long nose Strabismus Coloboma Poor speech Polydactyly Telecanthus Deeply set eye Autism Partial agenesis of the corpus callosum Molar tooth sign on MRI Thick vermilion border Upslanted palpebral fissure Flat occiput Brachydactyly Hypertension Macrocephaly Bifid uvula Hydrocephalus Short nose Microphthalmia Malar flattening Agenesis of corpus callosum Hypoplasia of the corpus callosum Broad forehead Cleft palate Oral cleft Hearing impairment Thick eyebrow Motor delay Protruding ear Thin vermilion border Wide nose Round face Neurological speech impairment Prominent metopic ridge Wide intermamillary distance Short palpebral fissure Microretrognathia Absence seizures Dystonia Small for gestational age Bruxism Abnormal eyelash morphology Absent eyelashes Sparse lateral eyebrow Aplasia cutis congenita Abnormal hair pattern Periorbital fullness Lacrimation abnormality Abnormality of the upper urinary tract Distichiasis Muscular hypotonia of the trunk Abnormality of the sacroiliac joint Sparse lower eyelashes Congenital horizontal nystagmus Cryptorchidism Long philtrum Prominent forehead Prematurely aged appearance Multiple cafe-au-lait spots Dimple chin Recurrent fractures Prominent nasal tip Abnormality of the eye Synophrys Joint hypermobility Decreased antibody level in blood Pachygyria Cortical gyral simplification Atonic seizures IgA deficiency Protruding tongue IgG deficiency Pneumonia High forehead Irritability Joint laxity Prominent nasal bridge Abnormality of eye movement Postaxial polydactyly Renal cyst Dandy-Walker malformation Encephalocele Tented upper lip vermilion Occipital encephalocele Meningocele Multiple renal cysts Breathing dysregulation Attention deficit hyperactivity disorder Constipation Long upper lip Feeding difficulties in infancy Abnormality of the skeletal system Ventriculomegaly Atrial septal defect Kyphosis Cerebral atrophy Osteoporosis Proptosis Retrognathia Hypoglycemia Elevated hepatic transaminase Low-set, posteriorly rotated ears Long face Clinodactyly Redundant skin Nevus Febrile seizures Cafe-au-lait spot Accelerated skeletal maturation Hyperlipidemia Reduced bone mineral density Hyperinsulinemia Nevus flammeus Deep palmar crease Dysphagia Aplasia/Hypoplasia of the skin Abnormality of the liver Hypopigmented skin patches Fusion of the left and right thalami Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Flat nasal alae Broad face Umbilical hernia Hyperlordosis Postnatal growth retardation Craniosynostosis Blepharophimosis Hip dislocation Spina bifida occulta Radioulnar synostosis Bilateral cryptorchidism Panhypopituitarism Bilateral cleft lip and palate Diastasis recti Midface retrusion Anemia Intellectual disability, mild Brachycephaly Conductive hearing impairment Single transverse palmar crease Long eyelashes Brittle hair Increased number of teeth Bilateral conductive hearing impairment Macrotia Depressed nasal tip Cleft lip Iris coloboma Prominent nose Dental malocclusion Hypotelorism Omphalocele Holoprosencephaly Median cleft lip Bilateral cleft lip Supernumerary nipple Abnormal anterior chamber morphology Horizontal nystagmus Retinal coloboma Retinal dystrophy Pigmentary retinopathy Apraxia Renal dysplasia Truncal ataxia Oculomotor apraxia Abnormal electroretinogram Nephronophthisis Delayed ability to walk Central apnea Stage 5 chronic kidney disease Episodic tachypnea Elongated superior cerebellar peduncle Neonatal breathing dysregulation Enlarged fossa interpeduncularis Sparse hair Scarring Anal atresia Bulbous nose Depressed nasal ridge Polymicrogyria Kyphoscoliosis Abnormal nasal morphology Aggressive behavior Epicanthus inversus Caudal appendage Large fleshy ears Limited pronation/supination of forearm Prominent coccyx Cerebellar hypoplasia Hyperactivity Mandibular prognathia Anxiety Short distal phalanx of finger Renal insufficiency Sleep disturbance Gingival overgrowth Schizophrenia Sparse eyebrow Obsessive-compulsive behavior Neurodevelopmental delay Facial hypotonia Muscular hypotonia Cognitive impairment Visual impairment Morning glory anomaly


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