Epicanthus, and Pes cavus

Diseases related with Epicanthus and Pes cavus

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

Top matches:

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

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

Medium match SILLENCE SYNDROME

Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.

SILLENCE SYNDROME Is also known as synostoses, multiple, with brachydactyly|symphalangism-brachydactyly syndrome|wl syndrome|brachydactyly-symphalangism syndrome|facioaudiosymphalangism syndrome|deafness-symphalangism syndrome of herrmann

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Epicanthus
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SILLENCE SYNDROME

Other less relevant matches:

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Medium match WEAVER SYNDROME; WVS

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Growth delay Downslanted palpebral fissures Camptodactyly Hypertonia Cryptorchidism Hypospadias Pectus excavatum Prominent nose Cataract Behavioral abnormality Intrauterine growth retardation Macrotia Clinodactyly Microphthalmia Muscular hypotonia Brachydactyly Intellectual disability, severe Narrow face Hearing impairment Intellectual disability, mild Long philtrum Sleep disturbance Short foot Short philtrum Kyphosis Hoarse voice Nystagmus Camptodactyly of finger Joint laxity Depressed nasal bridge Radial deviation of finger Mandibular prognathia Ventriculomegaly Hypoplasia of the corpus callosum Hernia Inguinal hernia Macrocephaly Hyperhidrosis Skeletal muscle atrophy Muscle weakness Arachnodactyly Low-set ears Dilatation Hyperreflexia Joint contracture of the hand Joint hypermobility Talipes equinovarus Midface retrusion Wide nasal bridge

Rare Symptoms - Less than 30% cases

Spastic diplegia Cerebellar vermis atrophy Abnormality of the thumb Cerebellar atrophy Mood swings Malar flattening Renal insufficiency Immunodeficiency Kyphoscoliosis Overgrowth Slurred speech Motor delay Dysarthria Absent speech Anxiety Spastic paraplegia Abnormality of the foot Paraplegia Slender finger Lymphedema Gliosis Cognitive impairment Failure to thrive Diaphragmatic eventration Anteverted nares Scaphocephaly Gait ataxia Nasal speech Obesity Prominent nasal bridge Fine hair Pachygyria Pointed chin Flat occiput Feeding difficulties Small nail Delayed myelination Severe global developmental delay Small for gestational age Muscular hypotonia of the trunk Broad forehead Mild short stature Cupped ear Cerebral atrophy Upslanted palpebral fissure Narrow mouth Protruding ear Hypermetropia Long face Iris coloboma Talipes Sparse hair Clinodactyly of the 5th finger Joint hyperflexibility Hypogonadism Hyperactivity Micropenis High forehead EEG abnormality Aggressive behavior High, narrow palate Abnormality of the pinna Wide mouth Bulbous nose Moderately short stature Polymicrogyria Short palm Decreased testicular size Interphalangeal joint contracture of finger Thick lower lip vermilion Short thumb Sandal gap Cachexia Large hands Down-sloping shoulders Small hand Toe syndactyly Underdeveloped nasal alae Ankylosis Deep philtrum Pectus carinatum Chorioretinal coloboma Severe short stature Cubitus valgus Wide nose Coloboma Intellectual disability, moderate Pes planus Abnormality of the skeletal system Back pain Platyspondyly Thin upper lip vermilion Single transverse palmar crease Sinus tachycardia Broad-based gait Thick upper lip vermilion Broad thumb Prominent forehead Ptosis Metatarsus adductus Narrow foot Decreased head circumference Myopathy Round ear Phimosis Abnormal hair laboratory examination Anteverted ears Broad columella Thin eyebrow Heterotaxy Abnormality of the rib cage Small face Macrodontia Polyhydramnios Short nose Autistic behavior Congenital diaphragmatic hernia Growth hormone deficiency Skeletal dysplasia Tapered finger Highly arched eyebrow Thin vermilion border Smooth philtrum Facial asymmetry Attention deficit hyperactivity disorder Postnatal growth retardation Recurrent infections Developmental regression Feeding difficulties in infancy Low-set, posteriorly rotated ears Retinal detachment Deeply set eye Sprengel anomaly Autism Posteriorly rotated ears Abnormality of cardiovascular system morphology Sparse lateral eyebrow Long eyelashes Prominent metopic ridge Deep-set nails Ventricular septal defect Peripheral neuropathy Cleft palate Sensorineural hearing impairment Dysharmonic bone age Flared humeral metaphysis Abnormally low-pitched voice Limited knee extension Flared femoral metaphysis Lumbar kyphosis Sacrococcygeal teratoma Horizontal eyebrow Blindness Vertebral wedging Short fourth metatarsal Prominent fingertip pads Galactorrhea Teratoma Thin nail Thoracolumbar kyphosis Calcaneovalgus deformity Poor fine motor coordination Dimple chin Broad philtrum Atrial septal defect Monocular strabismus High hypermetropia Hypoplasia of the maxilla Microcornea Abnormality of the genital system Failure to thrive in infancy Rhizomelia Poor suck Abnormality of the hair Situs inversus totalis Renal hypoplasia Abnormality of the ribs Tetralogy of Fallot Triangular face Knee flexion contracture Abnormal heart morphology Precocious puberty Anal atresia Anophthalmia Joint stiffness Sclerocornea Abnormality of the nervous system Ectopia pupillae Brachycephaly Diabetes mellitus Periorbital fullness Alopecia Open mouth Sparse and thin eyebrow Cafe-au-lait spot Postnatal microcephaly Hypoplasia of the brainstem Glomerulosclerosis Hypoalbuminemia Chronic kidney disease Adducted thumb Hyperkinesis Lissencephaly Severe muscular hypotonia Opacification of the corneal stroma Aspiration Progressive microcephaly Heterotopia Hemiplegia/hemiparesis Hypsarrhythmia Spastic tetraplegia Nephrotic syndrome Hypotelorism Oligohydramnios Narrow forehead Sloping forehead Dandy-Walker malformation Premature birth Limitation of joint mobility Brain atrophy Focal segmental glomerulosclerosis Abnormality of neuronal migration Tetraplegia Periorbital edema Thyroid dysgenesis Laryngospasm Hypoplasia of the ear cartilage Encephalomalacia Albuminuria Congenital nephrotic syndrome Abnormality of the intervertebral disk Axial dystonia Diffuse mesangial sclerosis Narrow nasal ridge Hand clenching Abnormal renal physiology Congenital hypothyroidism Spastic ataxia Aqueductal stenosis Diffuse cerebral atrophy Tubular atrophy Esophagitis Mild microcephaly Aspiration pneumonia Adrenal hypoplasia Hiatus hernia Hypoplasia of the iris Proportionate short stature Abnormality of immune system physiology Chorea Ascites Broad face Intestinal atresia Large fleshy ears Dysplastic corpus callosum Anisocoria Flared nostrils Toe clinodactyly Deep plantar creases Thick nasal alae Unilateral cryptorchidism Abnormality of nervous system morphology Wide nasal base Thick hair Microphallus Conspicuously happy disposition Overlapping fingers High anterior hairline Insomnia Abnormality of digit Syndactyly Proximal placement of thumb Abnormality of the thorax Abnormality of the voice Abnormality of the outer ear Widely spaced teeth Microretrognathia Bilateral single transverse palmar creases Long palm Gastrointestinal atresia Hypopigmentation of the skin Hypothyroidism Nephropathy Hematuria Inability to walk Poor speech Abnormality of eye movement Retinopathy Irritability Abnormality of the eye Abnormality of the kidney Proteinuria Gastroesophageal reflux Cerebral cortical atrophy Medial flaring of the eyebrow Cerebellar hypoplasia Pneumonia Dystonia Abnormality of the dentition Vomiting Edema Hydrocephalus Optic atrophy Visual impairment Anemia Ataxia Abnormality of the proximal phalanx of the thumb Dilation of lateral ventricles Absent septum pellucidum Large earlobe Difficulty walking Aplasia/Hypoplasia of the middle phalanges of the hand Distal amyotrophy Dysmetria Lower limb muscle weakness Aplasia of the middle phalanx of the hand Genu valgum Broad metatarsal Broad metacarpals Proximal symphalangism Hydronephrosis Proximal symphalangism of hands Oval face Constipation Babinski sign Enlargement of the costochondral junction Absent distal phalanges Large iliac wings Abnormality of the distal phalanx of finger Dysphagia Frontal bossing Absent distal interphalangeal creases Distal symphalangism Abnormal cerebellum morphology Lower limb undergrowth Intervertebral disc degeneration Abnormality of the hand Upper limb muscle weakness Premature loss of teeth Ankle contracture Slender build Scleroderma Ankle clonus Short sternum Hammertoe Impaired vibratory sensation Emotional lability Short upper lip Specific learning disability Drooling Spastic paraparesis Aplastic/hypoplastic toenail Clonus Spastic gait Hallucinations Progressive muscle weakness Lower limb spasticity Choreoathetosis Psychosis Short lower limbs Stapes ankylosis Cervical spinal canal stenosis Short 1st metacarpal Arthrogryposis multiplex congenita Decreased fetal movement Hypotension Webbed neck Abnormal bleeding Muscle cramps Metabolic acidosis Hypoplastic spinal processes Tachycardia Lactic acidosis Limb muscle weakness Muscular dystrophy Chess-pawn distal phalanges Stroke Hyperlordosis Myalgia Proximal muscle weakness Rigidity Fusion of midphalangeal joints Acidosis Abnormality of the proximal phalanges of the hand Elevated serum creatine phosphokinase Arrhythmia Abnormality of the proximal phalanx of the hallux Lumbar hyperlordosis Shock Hypoplastic nasal septum Thoracic kyphosis Bulbous tips of toes Mixed respiratory and metabolic acidosis Long upper lip Congenital ptosis Progressive conductive hearing impairment Respiratory arrest Severe lactic acidosis Breech presentation Hyperphosphatemia Low hanging columella Malignant hyperthermia Tachypnea Myoglobinuria Large tarsal bones Acute kidney injury Rhabdomyolysis Abnormality of the sternum Hyperkalemia Myopathic facies Abnormality of the coagulation cascade Ventricular fibrillation Myotonia Ventricular arrhythmia Dysuria Spastic dysarthria Hydrocele testis Metaphyseal irregularity Neonatal hypotonia Umbilical hernia Retrognathia Decreased body weight Delayed skeletal maturation Coxa vara Congenital contracture Pain Neoplasm Abnormality of toe Small earlobe Leukemia Abnormality of earlobe Abdominal obesity Panhypopituitarism Tics Abnormal hair pattern Distal lower limb amyotrophy Short femoral neck Restlessness Striae distensae Biparietal narrowing Abnormality of the musculature Peripheral demyelination Asthma Cortical gyral simplification Overlapping toe Hypoplastic iliac wing Diastasis recti Prolactin excess Acute lymphoblastic leukemia Inverted nipples Secondary amenorrhea Fever Limited elbow extension Bilateral talipes equinovarus Large for gestational age Cutis laxa Round face Accelerated skeletal maturation Coxa valga Hyporeflexia Short ribs Tall stature Congenital cataract Hypertrichosis Sensory neuropathy Amenorrhea Nail dysplasia Lymphoma Truncal obesity Cortical dysplasia Speech apraxia Flat acetabular roof Tarsal synostosis Cutaneous finger syndactyly Dislocated radial head Short humerus Spinal canal stenosis Short neck Gait disturbance Tremor Carpal synostosis Short hallux Hyperplasia of midface Anonychia Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Overbite Upper limb spasticity Short finger 2-3 toe syndactyly Open bite Conductive hearing impairment Generalized amyotrophy Thoracic scoliosis Relative macrocephaly Acanthosis nigricans Metaphyseal cupping Narrow palpebral fissure Gynecomastia Vertical nystagmus Intention tremor Hypoplasia of penis Memory impairment Short middle phalanx of finger Macroglossia Short metacarpal Delayed puberty Synophrys Neurological speech impairment Waddling gait Blepharophimosis Abnormal vertebral morphology Abnormality of the nail Abnormal dermatoglyphics Coarse facial features Projectile vomiting


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