Epicanthus, and Pes planus

Diseases related with Epicanthus and Pes planus

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

Top matches:

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

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

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

Other less relevant matches:

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

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

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

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

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

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Top 5 symptoms//phenotypes associated to Epicanthus and Pes planus

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Feeding difficulties High palate Hearing impairment Short palpebral fissure Downslanted palpebral fissures Upslanted palpebral fissure Delayed speech and language development Microcornea Micrognathia Telecanthus Low-set ears Myopia Talipes equinovarus Narrow mouth Pointed chin Scoliosis Growth delay Abnormality of the skeletal system Wide nasal bridge Flexion contracture Broad nasal tip Joint hypermobility Hypoplasia of the corpus callosum Posteriorly rotated ears Thin upper lip vermilion Abnormality of the pinna Midface retrusion

Rare Symptoms - Less than 30% cases

Motor delay Microtia Osteopenia Blepharophimosis Deep philtrum Coloboma Gait disturbance Hypotelorism Renal dysplasia Constipation Hyperactivity Autism Anxiety Autistic behavior Wide mouth Attention deficit hyperactivity disorder Thick vermilion border Hernia Obsessive-compulsive behavior Ptosis Triangular face Smooth philtrum Inguinal hernia Macrocephaly Hypospadias Underdeveloped nasal alae Absent speech Gait ataxia Aggressive behavior Synophrys Talipes Abnormal heart morphology Tapered finger Renal cyst Ventriculomegaly Postnatal microcephaly Patent ductus arteriosus Ataxia Clinodactyly Cataract Microphthalmia Sensorineural hearing impairment Cryptorchidism Hypermetropia Mitral valve prolapse Small hand Delayed ability to walk Enlarged kidney Large for gestational age Varicose veins Long foot Hypoplastic left heart Bowing of the legs Inverted nipples Large hands Nephroblastoma Flat occiput Tall stature Low hanging columella Oval face Intellectual disability, mild Macrotia Neoplasm Deeply set eye Protruding ear Infra-orbital crease Narrow philtrum Astigmatism Neutropenia Spina bifida occulta Macroglossia Round face Intestinal malrotation Broad columella Overgrowth Ventricular septal defect Gastrointestinal dysmotility Spina bifida Mitral stenosis Retinal coloboma Tall chin Long hallux Congenital muscular dystrophy Waddling gait Sloping forehead Blue sclerae Severe muscular hypotonia Cutis laxa Poor head control Easy fatigability Hyperextensible skin Poor suck Increased susceptibility to fractures Disproportionate tall stature Abnormality of the foot Difficulty climbing stairs Atrophic scars Soft skin Follicular hyperkeratosis Cleft soft palate Bladder diverticulum Keloids High-frequency sensorineural hearing impairment Arterial rupture Abnormal eye morphology Bruising susceptibility Muscular dystrophy Renal malrotation Hoarse voice Bifid ureter Brachydactyly Diarrhea Kyphosis Craniosynostosis Prominent nasal bridge Long face Otitis media Hypertrichosis Recurrent otitis media Toe walking Scarring Hyperventilation Microtia, first degree Muscle weakness Muscular hypotonia Skeletal muscle atrophy Cardiomyopathy Myopathy Elevated serum creatine phosphokinase Hyperkeratosis Kyphoscoliosis Umbilical hernia Narrow palate Deep palmar crease Coarctation of aorta Periorbital fullness Long eyelashes Rhizomelia Knee flexion contracture Precocious puberty Chorioretinal coloboma Anophthalmia Sclerocornea Ectopia pupillae Monocular strabismus Intellectual disability, moderate Failure to thrive Spasticity Hypertonia Behavioral abnormality Gastroesophageal reflux Joint laxity Developmental regression Hyperlordosis Retinal detachment Skeletal dysplasia Pectus carinatum Cerebral atrophy Abnormality of the cerebral white matter Prominent nose Sandal gap Overlapping toe Broad hallux Slender finger Cerebellar atrophy Dystonia Inability to walk Prominent forehead Everted lower lip vermilion Chorea Delayed myelination Involuntary movements Bruxism Low frustration tolerance Nystagmus Syndactyly Pes cavus Short philtrum Abnormal cerebellum morphology Growth hormone deficiency Broad neck Low-set, posteriorly rotated ears Carious teeth Flat face Short palm Wide intermamillary distance Microdontia Scrotal hypoplasia Overfolded helix Ureterocele Short neck Frontal bossing Anteverted nares Respiratory insufficiency Agenesis of corpus callosum Retrognathia Coarse facial features Neonatal hypotonia Hydronephrosis Poor speech Pectus excavatum Cleft palate Thick lower lip vermilion High, narrow palate Stereotypy Self-injurious behavior Depressed nasal bridge Intrauterine growth retardation Long philtrum Brachycephaly Postnatal growth retardation Abnormal cardiac septum morphology Narrow forehead Decreased head circumference Broad-based gait Decreased body weight Hemivertebrae Short chin Sacral dimple Severe intrauterine growth retardation Macrodontia Malar rash Nevus flammeus of the forehead Aortic rupture


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