Cataract, and Heterotopia

Diseases related with Cataract and Heterotopia

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


Top matches:

Low match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cataract


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4

Low match COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT


Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

Low match ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS


ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Low match DONNAI-BARROW SYNDROME


Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW SYNDROME

Low match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Low match BORJESON-FORSSMAN-LEHMANN SYNDROME


Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Low match ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME


Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

Low match MILLER-DIEKER SYNDROME


Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Heterotopia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Lissencephaly Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cataract and Heterotopia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Hydrocephalus Hypoplasia of the brainstem Ventriculomegaly Cerebellar hypoplasia Frontal bossing Posteriorly rotated ears Hypoplasia of the corpus callosum Pachygyria Muscular hypotonia Polymicrogyria Microphthalmia Growth delay Type II lissencephaly Hypertelorism Cryptorchidism Agenesis of corpus callosum Encephalocele Hearing impairment Agyria Muscular dystrophy Peters anomaly Congenital cataract Dilatation Elevated serum creatine phosphokinase Glaucoma Hypermetropia Retinal detachment Coloboma Iris coloboma Micropenis Intellectual disability, profound Short nose Dandy-Walker malformation Abnormal facial shape Aplasia/Hypoplasia of the corpus callosum Cerebellar dysplasia Congenital muscular dystrophy Intellectual disability, severe Cleft palate Myopia Hypoplasia of penis Spastic tetraplegia Abnormality of neuronal migration Abnormality of the cerebral white matter Optic nerve hypoplasia Scoliosis Flexion contracture

Rare Symptoms - Less than 30% cases


Anteverted nares Retinal dysplasia Anophthalmia Clinodactyly Narrow forehead Short stature Depressed nasal bridge Specific learning disability Failure to thrive Strabismus Micrognathia Ptosis Omphalocele EEG abnormality Remnants of the hyaloid vascular system Prominent supraorbital ridges Camptodactyly Delayed eruption of teeth Proptosis Spastic diplegia Retinal dystrophy Single transverse palmar crease Postnatal growth retardation Abnormal heart morphology Wide nasal bridge Motor delay Prominent forehead Scrotal hypoplasia Intrauterine growth retardation Skeletal muscle atrophy Oral cleft Midface retrusion Ventricular septal defect Abnormal vertebral morphology Sensorineural hearing impairment Downslanted palpebral fissures Upslanted palpebral fissure Partial agenesis of the corpus callosum Respiratory insufficiency Retinal atrophy Congenital glaucoma Congenital contracture Severe muscular hypotonia Cerebellar vermis hypoplasia Cleft upper lip Cleft lip Visual impairment Cerebellar cyst Muscle weakness Occipital encephalocele Infantile spasms Paraplegia Spastic paraplegia Optic atrophy Tetraplegia Buphthalmos Hypogonadism Decreased fetal movement Adducted thumb Retrognathia Deeply set eye Facial palsy Areflexia Microtia Hypoplasia of the prostate Decerebrate rigidity Broad foot Broad neck Ketoacidosis Pelvic kidney Deep palmar crease Polyhydramnios Short 5th finger Large earlobe Thin vermilion border Shortening of all distal phalanges of the fingers Widely spaced toes Camptodactyly of toe Cavum septum pellucidum Hypopituitarism Scheuermann-like vertebral changes Long ear Diabetic ketoacidosis Moderately short stature Shortening of all middle phalanges of the fingers Cervical spinal canal stenosis Recurrent aspiration pneumonia Wide nose Thickened calvaria Tapered finger Coarse facial features High forehead Intellectual disability, moderate Feeding difficulties in infancy Abnormality of the pinna Sparse hair Midline brain calcifications Blepharophimosis Type I lissencephaly Delayed puberty Joint hyperflexibility Thick eyebrow Full cheeks Thick upper lip vermilion Decreased testicular size Amenorrhea Abnormality of upper lip Hypertrichosis Hyperpigmentation of the skin Gynecomastia Short toe Hypergonadotropic hypogonadism Narrow palpebral fissure Hammertoe Truncal obesity External genital hypoplasia Abnormality of the hip bone Hypospadias Duodenal atresia Hypothalamic hamartoma Joint contracture of the hand Periventricular leukomalacia Inguinal hernia Spastic gait Abnormality of the cardiovascular system Butterfly vertebrae Anterior pituitary hypoplasia Supernumerary ribs Vertebral hypoplasia Absent gallbladder Multiple impacted teeth Flat face Clinodactyly of the 5th finger Glandular hypospadias Cervical hemivertebrae Proximal esophageal atresia Ataxia Neoplasm Epicanthus Dysphagia Atrial septal defect Abnormality of cardiovascular system morphology Nephropathy Abnormality of metabolism/homeostasis Gonadotropin deficiency Brachycephaly Premature skin wrinkling Patent foramen ovale Macrotia Visual loss Patent ductus arteriosus Progressive spastic paraplegia Prominent occiput Deep philtrum Growth hormone deficiency Abnormality of the genital system Hypogonadotrophic hypogonadism Thin upper lip vermilion Holoprosencephaly Polydactyly Rib fusion Chorioretinal coloboma Tracheoesophageal fistula Infantile muscular hypotonia Vertebral fusion Increased number of teeth Cerebral cortical atrophy Esophageal atresia Sclerocornea Sacral dimple Missing ribs 11 pairs of ribs Hemivertebrae Non-acidotic proximal tubulopathy Hypothyroidism Overlapping toe Behavioral abnormality Absent speech Arthrogryposis multiplex congenita Abnormality of eye movement Abnormality of the foot Webbed neck Hypotelorism Apraxia Oculomotor apraxia Plagiocephaly Cutaneous syndactyly Pleural effusion Pericardial effusion Respiratory distress Cystic hygroma Overlapping fingers Hand clenching Kinked brainstem Malar flattening Hernia Umbilical hernia Proteinuria Telecanthus Broad forehead Pulmonary hypoplasia Broad nasal tip Edema Talipes equinovarus Progressive visual loss Gray matter heterotopias Cortical dysplasia Gait disturbance Mental deterioration Severe global developmental delay Neurodegeneration Coma Abnormal cerebellum morphology Progressive neurologic deterioration Absence seizures Leukoencephalopathy Hemiplegia Porencephalic cyst Right hemiplegia High palate Neonatal hypotonia Macroglossia Skeletal muscle hypertrophy Spinal rigidity Abnormality of the periventricular white matter Hypoplasia of the pons Persistent pupillary membrane Moderate myopia Large fontanelles Weak cry Gonadal dysgenesis Corpus callosum atrophy Intestinal malrotation Congenital diaphragmatic hernia Obesity Severe hydrocephalus Bilateral cleft lip Abnormal cortical gyration Abnormality of the optic nerve Aqueductal stenosis Muscle fiber splitting Excessive daytime sleepiness Posterior fossa cyst Meningoencephalocele Hypoglycosylation of alpha-dystroglycan Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Metatarsus valgus Macrogyria Submucous cleft hard palate Abnormal lactate dehydrogenase activity Chorioretinal dysplasia Hypoplastic male external genitalia Aplasia/Hypoplasia involving the skeletal musculature Thick cerebral cortex Abnormal aldolase level Nystagmus Feeding difficulties Peripheral neuropathy Abnormality of the skeletal system Abnormality of the dentition Kyphosis Megalocornea Absent septum pellucidum High myopia Macular hypoplasia Wide anterior fontanel Aminoaciduria Epiphyseal dysplasia Long nose Severe sensorineural hearing impairment Hypoplasia of the iris Widow's peak Abnormality of the uterus Bicornuate uterus Short sternum Proximal tubulopathy Diaphragmatic eventration Infra-orbital crease Atresia of the external auditory canal Low-molecular-weight proteinuria Blindness Myopathy Hyporeflexia Hydronephrosis Protruding ear Retinopathy Corneal opacity Anal atresia Microcornea Bifid uvula Renal dysplasia Bitemporal hollowing



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Weight loss, related diseases and genetic alterations Intrauterine growth retardation and Hyperglycemia, related diseases and genetic alterations Melanoma and Congenital cataract, related diseases and genetic alterations Brachydactyly and Hirsutism, related diseases and genetic alterations High palate and Severe short stature, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more