Epicanthus, and Joint hypermobility

Diseases related with Epicanthus and Joint hypermobility

In the following list you will find some of the most common rare diseases related to Epicanthus and Joint hypermobility 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

NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Low match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Other less relevant matches:

Low match CK SYNDROME

CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.

CK SYNDROME Is also known as x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome|mental retardation, x-linked, with thin body habitus and cortical malformation

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CK SYNDROME

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

Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea SyndromeBrittle cornea syndrome-2 (BCS2 ) is caused by mutation in the PRDM5 gene (OMIM ) on chromosome 4q27.

BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly|dysgenesis mesodermalis corneae et sclerae|corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|eds6b, formerly|fragilitas oculi with joint hyperextensibility

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Epicanthus
  • Myopia
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about BRITTLE CORNEA SYNDROME 1; BCS1

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

DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD

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

Top 5 symptoms//phenotypes associated to Epicanthus and Joint hypermobility

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Joint hypermobility. 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

Generalized hypotonia Scoliosis Abnormal facial shape Seizures High palate Joint laxity Micrognathia Wide nasal bridge Downslanted palpebral fissures Ptosis Feeding difficulties Thin upper lip vermilion Intrauterine growth retardation Low-set ears Upslanted palpebral fissure Delayed ability to walk Growth delay Synophrys Aggressive behavior Clinodactyly Agenesis of corpus callosum Short philtrum Anteverted nares Blue sclerae Round face

Rare Symptoms - Less than 30% cases

Recurrent fractures Failure to thrive Frontal bossing Congenital hip dislocation Broad forehead Malar flattening Narrow mouth Blepharophimosis Posteriorly rotated ears Hyperactivity Attention deficit hyperactivity disorder Deeply set eye Camptodactyly Pachygyria Abnormality of digit Behavioral abnormality Long philtrum Cryptorchidism Hyperlordosis Gastroesophageal reflux Midface retrusion Retrognathia Absent speech Everted lower lip vermilion Hypoplasia of the corpus callosum Ventriculomegaly Short stature Ataxia Cerebellar atrophy Tapered finger Hearing impairment Inguinal hernia Protruding ear Postnatal growth retardation Hypoplasia of the maxilla Hip dislocation Bulbous nose Mandibular prognathia Triangular face Hypotelorism Bowing of the long bones Large fontanelles Osteopenia Osteoporosis Brachycephaly Red hair Keratoconus Megalocornea Soft skin Atypical scarring of skin Spondylolisthesis Buphthalmos Dentinogenesis imperfecta Hyperextensibility of the finger joints Talipes valgus Growth abnormality Palmoplantar cutis laxa Keratoglobus Molluscoid pseudotumors Decreased corneal thickness Autism Abnormality of the skeletal system Hydrocephalus Prominent forehead Cutis laxa Prominent superficial veins Redundant skin Dysphagia Easy fatigability Polycystic ovaries Impulsivity Cavum septum pellucidum Long toe Horizontal eyebrow Brachydactyly Constipation Cafe-au-lait spot Poor speech Highly arched eyebrow Decreased antibody level in blood Cortical gyral simplification Atonic seizures IgA deficiency Protruding tongue Delayed gross motor development Insulin resistance Premature skin wrinkling Syndactyly Hallux valgus Colpocephaly Narrow nasal ridge Abnormal glycosylation Nystagmus Motor delay Short nose Obesity Stereotypy High forehead Macrotia Anxiety Hypermetropia Thin vermilion border Thick eyebrow Thick vermilion border Broad-based gait Disproportionate tall stature Lumbar hyperlordosis Increased susceptibility to fractures Narrow face Prominent nasal bridge Long face Polymicrogyria Sleep disturbance Delayed myelination Dental crowding Chorea Involuntary movements Abnormal cortical bone morphology Slender build Almond-shaped palpebral fissure Spasticity Inability to walk Ventricular septal defect Atrial septal defect Irritability Bruxism Abnormal heart morphology Microretrognathia Finger syndactyly Severe global developmental delay Joint hyperflexibility Small hand Abnormality of cardiovascular system morphology Intellectual disability, severe Preauricular skin tag Abnormality of the voice Low frustration tolerance High pitched voice Abnormality of bone mineral density Cat cry Short neck Cognitive impairment Kyphosis Muscular hypotonia Pes planus Gait ataxia Hyperextensible skin Glaucoma Unilateral cryptorchidism Myopia Macrocephaly Autistic behavior Abnormality of the dentition Hernia Visual loss Scarring Vertebral fusion Pectus carinatum Talipes Retinal detachment Mitral valve prolapse High myopia Low-set, posteriorly rotated ears Reduced bone mineral density Abnormal myelination Language impairment Telecanthus Talipes equinovarus Cerebral atrophy Dystonia Curly hair Mild microcephaly Periventricular leukomalacia Small cerebral cortex Aplasia of the inferior half of the cerebellar vermis Edema Bilateral ptosis Cupped ear Abnormality of the pinna Wide mouth Overfolded helix Abnormality of the cerebral white matter Flat face Downturned corners of mouth IgG deficiency


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