Epicanthus, and Agenesis of corpus callosum

Diseases related with Epicanthus and Agenesis of corpus callosum

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

Top 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

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Other less relevant matches:

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

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

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44)|monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 1Q44 MICRODELETION SYNDROME

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

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

Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 Is also known as trichothiodystrophy-neurocutaneous syndrome|pollitt syndrome|abhs|trichothiodystrophy, nonphotosensitive 1|bids syndrome|ttdn1|amish brittle hair brain syndrome|hair-brain syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4

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

Top 5 symptoms//phenotypes associated to Epicanthus and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly 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 Agenesis of corpus callosum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Short stature Feeding difficulties Upslanted palpebral fissure Frontal bossing Strabismus Wide nasal bridge Telecanthus Micrognathia Ventriculomegaly Smooth philtrum Broad forehead Short philtrum Delayed speech and language development Anteverted nares Protruding ear Partial agenesis of the corpus callosum High palate Joint hypermobility Scoliosis Downslanted palpebral fissures Hydrocephalus Short palpebral fissure Cryptorchidism Short nose Hypoplasia of the corpus callosum Hypotelorism Delayed ability to walk Abnormality of the pinna Thin upper lip vermilion Muscular hypotonia

Rare Symptoms - Less than 30% cases

Talipes equinovarus Intrauterine growth retardation Edema Gastroesophageal reflux Retrognathia Low-set ears Downturned corners of mouth Dystonia Intellectual disability, severe Deeply set eye Muscular hypotonia of the trunk Failure to thrive Thin vermilion border Round face Brachycephaly Triangular face Bulbous nose Prominent metopic ridge Small for gestational age Blepharophimosis Sparse hair Camptodactyly Ptosis Narrow mouth Wide mouth Macrocephaly Microphthalmia Midface retrusion Macrotia Highly arched eyebrow Optic atrophy Nystagmus Ataxia Flat occiput Long philtrum Prominent forehead Abnormal heart morphology Ventricular septal defect Spasticity Abnormality of the skeletal system Large fontanelles Increased serum lactate Congenital hip dislocation Cutis laxa Metabolic acidosis Tetraplegia Bowing of the long bones Neurodegeneration Osteopenia Joint laxity Dysmetria Mandibular prognathia Osteoporosis Encephalomalacia Aminoaciduria Decreased activity of the pyruvate dehydrogenase complex Acute encephalopathy Titubation Progressive encephalopathy Hip dislocation Abnormality of the vertebral column Truncal ataxia Malar flattening Abnormal vertebral morphology Spastic tetraplegia Postnatal growth retardation Tetralogy of Fallot Hypoplasia of the maxilla Aciduria Blue sclerae Recurrent fractures Severe muscular hypotonia Growth abnormality Coarctation of aorta Coarse facial features Pes planus Neonatal hypotonia Hydronephrosis Hypermetropia Poor speech Talipes Renal cyst Growth hormone deficiency Mitral valve prolapse Renal dysplasia Respiratory insufficiency Pointed chin Narrow palate Deep philtrum Hypoplastic left heart Inverted nipples Low hanging columella Mitral stenosis Gastrointestinal dysmotility Broad columella Oval face Narrow philtrum Patent ductus arteriosus Tiger tail banding Redundant skin Microcornea Premature skin wrinkling Prominent superficial veins Colpocephaly Narrow nasal ridge Abnormal glycosylation Cataract Cognitive impairment Hypogonadism Cerebral cortical atrophy Ichthyosis Small nail Concave nail Hypergonadotropic hypogonadism Sparse eyelashes Developmental regression Macular degeneration Brittle hair Decreased fertility Keratoconjunctivitis sicca Woolly hair Corneal neovascularization Hypoplasia of teeth Trichorrhexis nodosa Lethargy Bruxism Acidosis Periventricular leukomalacia Fusion of the left and right thalami Flat nasal alae Atrial septal defect Clinodactyly Posteriorly rotated ears Abnormality of digit Curly hair Mild microcephaly Small cerebral cortex Hypoplasia of the premaxilla Aplasia of the inferior half of the cerebellar vermis Proptosis Craniosynostosis Astigmatism Arachnodactyly Sleep disturbance Narrow forehead Low posterior hairline Absent nasal septal cartilage Alobar holoprosencephaly Exotropia Median cleft lip Brachydactyly Cleft lip Oral cleft Iris coloboma Prominent nose Dental malocclusion Omphalocele Holoprosencephaly Bilateral cleft lip Semilobar holoprosencephaly Depressed nasal tip Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Parietal bossing Stereotypy Obsessive-compulsive behavior Myoclonus Preauricular skin tag Abnormal myelination Unilateral cryptorchidism High forehead Abnormal cardiac septum morphology Generalized tonic-clonic seizures Synophrys Vesicoureteral reflux Intestinal malrotation Horseshoe kidney Language impairment Biparietal narrowing Optic disc hypoplasia Exaggerated cupid's bow Hyperreflexia Blindness Vomiting Hypertonia Cerebral atrophy Encephalopathy Vertebral fusion Bilateral ptosis Large hands Neurological speech impairment Long fingers Overweight Turricephaly Long foot Cleft palate Depressed nasal bridge Motor delay Absent speech Wide nose Flat face Bifid uvula Wide intermamillary distance Absence seizures Microretrognathia Widely spaced teeth Long nose Prominent nasal tip Long upper lip Abnormality of the cerebral white matter Infra-orbital crease


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