Epicanthus, and Protruding ear

Diseases related with Epicanthus and Protruding ear

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

Top matches:

Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas|bosch-boonstra-schaaf optic atrophy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

Other less relevant matches:

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

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

Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

ABRUZZO-ERICKSON SYNDROME Is also known as cleft palate-coloboma-deafness syndrome|charge-like syndrome|charge-like syndrome, x-linked

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ABRUZZO-ERICKSON SYNDROME

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

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

High match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

Top 5 symptoms//phenotypes associated to Epicanthus and Protruding ear

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Epicanthus and Protruding ear. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Deeply set eye Microcephaly Triangular face Midface retrusion Cryptorchidism Micrognathia Upslanted palpebral fissure Seizures Cleft palate Talipes equinovarus Macrotia Agenesis of corpus callosum Talipes Malar flattening High palate Congenital hip dislocation Growth delay Scoliosis Downslanted palpebral fissures Facial asymmetry Cleft lip

Rare Symptoms - Less than 30% cases

Round face Hydrocephalus Short nose Prominent forehead Short neck Abnormality of the skeletal system Thin upper lip vermilion Broad forehead Smooth philtrum Long philtrum Iris coloboma Highly arched eyebrow Flexion contracture Macrocephaly Bifid uvula Hypotelorism Ptosis Partial agenesis of the corpus callosum Ulnar deviation of finger Prominent nasal bridge Sensorineural hearing impairment Feeding difficulties Ulnar deviation of the hand or of fingers of the hand Failure to thrive Anteverted nares Coloboma Frontal bossing Wide nasal bridge Bulbous nose Bilateral cleft lip Bilateral cleft lip and palate Strabismus Camptodactyly Camptodactyly of finger Kyphoscoliosis Arthrogryposis multiplex congenita Abnormality of the foot Brachydactyly Single transverse palmar crease Hip dislocation Spasticity Narrow face Low-set ears Generalized hypotonia Mandibular prognathia Webbed neck Atrial septal defect Distal arthrogryposis Hernia Macroglossia Intellectual disability, mild Clinodactyly of the 5th finger Renal malrotation Bifid ureter Long hallux Retinal coloboma Pectus excavatum Varicose veins Long foot Syndactyly Sparse eyebrow Enlarged kidney Thick vermilion border Colpocephaly Narrow nasal ridge Abnormal glycosylation Neoplasm Ventricular septal defect Nystagmus Abnormal heart morphology Inguinal hernia Pes planus Astigmatism Neutropenia Large for gestational age Renal cyst Overgrowth Mitral valve prolapse Renal dysplasia Tall stature Spina bifida Spina bifida occulta Nephroblastoma Large hands Bowing of the legs Intestinal malrotation Abnormal vertebral morphology Hyperlordosis Mildly elevated creatine phosphokinase Facial palsy Joint stiffness Bilateral single transverse palmar creases Short chin Narrow palpebral fissure Adducted thumb Congenital contracture Rocker bottom foot Metatarsus adductus Multiple joint contractures Vertebral segmentation defect Posteriorly rotated ears Abnormality of the ear Tarsal synostosis Abnormality of the hip bone Aplasia/Hypoplasia of the radius Trismus Overlapping fingers Calcaneovalgus deformity Ulnar deviation of the wrist Prominent nasolabial fold Round ear Narrow mouth Severe short stature Retinopathy Pterygium Finger syndactyly Ophthalmoplegia Abnormality of skin pigmentation Limitation of joint mobility Dandy-Walker malformation Lumbar hyperlordosis Interphalangeal joint contracture of finger Short phalanx of finger Premature skin wrinkling Knee flexion contracture Overlapping toe Elevated serum creatine phosphokinase Bilateral talipes equinovarus Decreased muscle mass Cutaneous finger syndactyly Submucous cleft hard palate Thoracolumbar scoliosis Down-sloping shoulders Abnormality of the rib cage Decreased hip abduction Camptodactyly of toe Muscle weakness Myopathy Prominent superficial veins Visual impairment Redundant skin 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 Alobar holoprosencephaly Hypoplasia of the premaxilla Fusion of the left and right thalami Depressed nasal tip Flat nasal alae Cerebral visual impairment Optic disc pallor Delayed speech and language development Depressed nasal bridge Motor delay Hypoplasia of the corpus callosum Intellectual disability, severe Dystonia Absent speech Broad face Median cleft lip Telecanthus Brittle hair High anterior hairline Ectropion of lower eyelids Euryblepharon Bilateral cleft palate Agenesis of lateral incisor Palate fistula Hyponasal speech Sparse eyelashes Nail dystrophy Long face Cupped ear Flat occiput Spastic diplegia Dry hair Microphthalmia Visual field defect Obsessive-compulsive behavior Oral cleft Prominent nose Dental malocclusion Omphalocele Holoprosencephaly Tapered finger Muscular hypotonia of the trunk Growth abnormality Brachycephaly Radioulnar synostosis Chorioretinal coloboma Abnormal localization of kidney Dimple chin Coronal hypospadias Optic atrophy Intrauterine growth retardation Ectropion Ventriculomegaly Osteoporosis Gastroesophageal reflux Short toe Osteopenia Joint laxity Postnatal growth retardation Joint hypermobility Recurrent fractures Hypoplasia of the maxilla Blue sclerae Bowing of the long bones Large fontanelles Cutis laxa Abnormal palate morphology Choanal atresia Abnormality of the pinna Widely spaced teeth Short philtrum Small for gestational age Neurological speech impairment Thin vermilion border Wide nose Downturned corners of mouth Wide intermamillary distance Short palpebral fissure Absence seizures Microretrognathia Long nose Microcornea Prominent metopic ridge Bruxism Prominent nasal tip Long upper lip Abnormality of the dentition Reduced visual acuity Hypospadias Conductive hearing impairment Toe syndactyly Flat face Absent phalangeal crease


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