Epicanthus, and Downturned corners of mouth

Diseases related with Epicanthus and Downturned corners of mouth

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

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 FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3


HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

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Other less relevant matches:

High match INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME


Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

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

High match FOCAL FACIAL DERMAL DYSPLASIA TYPE III


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

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


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

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP


Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

High match PONTOCEREBELLAR HYPOPLASIA TYPE 3


Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

High match TEMPLE-BARAITSER SYNDROME


Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

Top 5 symptoms//phenotypes associated to Epicanthus and Downturned corners of mouth

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Epicanthus and Downturned corners of mouth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Long philtrum Microcephaly High palate Intellectual disability, severe Wide nasal bridge Hypoplasia of the corpus callosum Abnormality of the pinna Hearing impairment Absent speech Strabismus Delayed speech and language development Ptosis Short philtrum Highly arched eyebrow Anteverted nares Short stature Feeding difficulties Round face Micrognathia Neonatal hypotonia Short nose Cerebral atrophy Wide mouth

Rare Symptoms - Less than 30% cases


Cerebellar hypoplasia Scoliosis Talipes equinovarus Muscular hypotonia Upslanted palpebral fissure Edema Thin upper lip vermilion Brachycephaly Telecanthus Agenesis of corpus callosum Obesity Tapered finger Large fleshy ears Muscular hypotonia of the trunk Aggressive behavior Thick vermilion border Generalized tonic-clonic seizures Spasticity Wide nose Deeply set eye Growth delay Cryptorchidism Wide intermamillary distance Full cheeks Blepharophimosis Smooth philtrum Unilateral cryptorchidism Flexion contracture Vertebral fusion Bilateral ptosis Visual impairment Abnormal myelination Joint hypermobility Ataxia Flat face Delayed ability to walk Language impairment Long nose Abnormality of the cerebral white matter Optic atrophy Neurological speech impairment Thin vermilion border Bifid uvula Short palpebral fissure Absence seizures Microretrognathia Widely spaced teeth Partial agenesis of the corpus callosum Broad forehead Prominent metopic ridge Bruxism Prominent nasal tip Long upper lip Intrauterine growth retardation Narrow mouth Gastroesophageal reflux Camptodactyly Hyperreflexia Pontocerebellar atrophy Cerebellar atrophy Short columella Low anterior hairline Intellectual disability, progressive Adducted thumb Myopathic facies Broad hallux Anonychia Global brain atrophy Poor eye contact Low hanging columella Broad thumb High anterior hairline Thick nasal alae Small thenar eminence Frontal upsweep of hair Pseudoepiphyses Flat forehead Tented philtrum Pseudoepiphysis of the thumb Absent nail of hallux Short thumb Open mouth Encephalopathy Elbow flexion contracture Proptosis Macrotia Dyskinesia High, narrow palate Underdeveloped nasal alae Hypsarrhythmia Decreased body weight Progressive microcephaly Poor head control Small nail Hypoplasia of the brainstem Long palpebral fissure Thoracic scoliosis Progressive encephalopathy Hypoplasia of the pons Short neck Malar flattening Short distal phalanx of finger Prominent nose Small for gestational age Aplasia/Hypoplasia of the skin Protruding ear Malignant hyperthermia Clinodactyly of the 5th finger Cerebral cortical atrophy Synophrys Generalized myoclonic seizures Narrow forehead Congenital hypothyroidism Underdeveloped supraorbital ridges Congenital stationary night blindness Esophoria Abnormality of brain morphology Horizontal eyebrow Multifocal cerebral white matter abnormalities Umbilical hernia Hyperlordosis Postnatal growth retardation Craniosynostosis Hip dislocation Accommodative esotropia High-frequency hearing impairment Spina bifida occulta Dysarthria Clinodactyly Hyperactivity Pointed chin Narrow palpebral fissure Sandal gap Everted lower lip vermilion Tented upper lip vermilion Sensorineural hearing impairment Dysphagia Facial paralysis Midface retrusion Posteriorly rotated ears Facial palsy Paralysis Hypermetropia Esotropia High hypermetropia Facial diplegia Oral cleft Radioulnar synostosis Prominent forehead Abnormality of the upper urinary tract Aplasia cutis congenita Abnormal eyelash morphology Absent eyelashes Sparse lateral eyebrow Abnormal hair pattern Periorbital fullness Lacrimation abnormality Dimple chin Multiple cafe-au-lait spots Distichiasis Abnormality of the sacroiliac joint Sparse lower eyelashes Congenital horizontal nystagmus Failure to thrive Cleft palate Motor delay Dystonia Prematurely aged appearance Redundant skin Bilateral cryptorchidism Nystagmus Supernumerary nipple Diastasis recti Abnormal anterior chamber morphology Abnormal nasal morphology Epicanthus inversus Caudal appendage Limited pronation/supination of forearm Prominent coccyx Hypertension Hypopigmented skin patches Frontal bossing Sparse hair Scarring Anal atresia Bulbous nose Broad nasal tip Depressed nasal ridge Horizontal nystagmus Hypoplastic thumbnail



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