Epicanthus, and Midface retrusion

Diseases related with Epicanthus and Midface retrusion

In the following list you will find some of the most common rare diseases related to Epicanthus and Midface retrusion 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:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

Other less relevant matches:

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

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

Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome|odpd|osseous dysplasia, digital, with facial pigmentary defects and multiple frenula|todpd|terminal osseous dysplasia and pigmentary defects|odpf

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ptosis
  • Low-set ears
  • Flexion contracture


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Top 5 symptoms//phenotypes associated to Epicanthus and Midface retrusion

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Seizures Malar flattening Micrognathia Hearing impairment Ptosis Upslanted palpebral fissure Posteriorly rotated ears Microcephaly Short stature Bulbous nose High palate Depressed nasal bridge Anteverted nares Short nose Delayed speech and language development Osteopenia Sparse eyebrow Strabismus Smooth philtrum Protruding ear Microtia Sensorineural hearing impairment Cleft palate Feeding difficulties Thin upper lip vermilion Brachydactyly Wide nasal bridge

Rare Symptoms - Less than 30% cases

Tapered finger Abnormality of the skeletal system Osteoporosis Hydrocephalus Generalized hypotonia Broad neck Flat face Iris coloboma Frontal bossing Broad forehead Macrotia Brachycephaly Mandibular prognathia Agenesis of corpus callosum Microphthalmia Macrocephaly Narrow mouth Telecanthus Hypotelorism Autistic behavior Hernia Cleft lip Overfolded helix Prominent forehead Bilateral cleft lip Bilateral cleft lip and palate Blue sclerae Cerebral atrophy Joint hypermobility Deeply set eye Joint laxity Ventriculomegaly Hypoplasia of the corpus callosum Camptodactyly Cryptorchidism Hip dislocation Dystonia Visual impairment Hypoplasia of the maxilla Triangular face Absent speech Bowing of the long bones Recurrent fractures Large fontanelles Thick lower lip vermilion Postnatal growth retardation Thick eyebrow Cerebral visual impairment Self-injurious behavior Delayed ability to walk Nasogastric tube feeding High, narrow palate Dyskinesia Recurrent hand flapping Abnormality of the cerebral white matter Gastroesophageal reflux Wide mouth Scoliosis Growth delay EEG abnormality Failure to thrive Encephalopathy Congenital hip dislocation Intrauterine growth retardation Abnormality of the pinna Cutis laxa Sparse scalp hair Abnormality of the dentition Intellectual disability, mild Long philtrum High forehead Nail dystrophy Congenital cataract Thin vermilion border Tented upper lip vermilion Ureterocele Radioulnar synostosis Mild short stature Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Shallow orbits Broad philtrum Broad eyebrow Cataract Scrotal hypoplasia Growth abnormality Hypospadias Redundant skin Premature skin wrinkling Prominent superficial veins Colpocephaly Narrow nasal ridge Abnormal glycosylation Motor delay Short neck Pectus excavatum Short palpebral fissure Pes planus Low-set, posteriorly rotated ears Blepharophimosis Carious teeth Short palm Microcornea Wide intermamillary distance Microdontia Nystagmus Alobar holoprosencephaly Localized osteoporosis Dysphagia Mixed hearing impairment Macrocytic anemia Submucous cleft hard palate Severe sensorineural hearing impairment Granulocytopenia Mandibulofacial dysostosis Dysarthria Facial palsy Congenital diaphragmatic hernia Paralysis Hypermetropia Downturned corners of mouth Esotropia High hypermetropia Facial diplegia Facial paralysis High-frequency hearing impairment Sparse and thin eyebrow Webbed neck Accommodative esotropia Ectropion Cerebellar atrophy Autism Retrognathia Everted lower lip vermilion Cupped ear Single transverse palmar crease Sparse eyelashes High anterior hairline Bifid uvula Ectropion of lower eyelids Euryblepharon Bilateral cleft palate Agenesis of lateral incisor Palate fistula Hyponasal speech Anemia Respiratory distress Esophoria Oral cleft Abnormal hand bone ossification Multiple joint contractures Syndactyly Clinodactyly Skeletal dysplasia Coloboma Camptodactyly of finger Abnormality of skin pigmentation Short toe Anal stenosis Flat nasal alae Fibroma Toe clinodactyly Abnormal oral frenulum morphology Camptodactyly of toe Mesomelic arm shortening Mesomelic leg shortening Localized skin lesion Abnormal foot bone ossification Flexion contracture Fusion of the left and right thalami Highly arched eyebrow Depressed nasal tip Prominent nose Dental malocclusion Omphalocele Holoprosencephaly Flat occiput Partial agenesis of the corpus callosum Median cleft lip Broad face Absent nasal septal cartilage Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Hypoplasia of the premaxilla Craniofacial asymmetry


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