Cataract, and Dandy-Walker malformation

Diseases related with Cataract and Dandy-Walker malformation

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


Top matches:

Medium match CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME


Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported.

CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME Is also known as congenital cataract-deafness-severe developmental delay syndrome|lethal neurodegenerative disorder due to copper transport defect

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL CATARACT-HEARING LOSS-SEVERE DEVELOPMENTAL DELAY SYNDROME

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6


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' (Godfrey et al., 2007).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, 6; MDDGA6 Is also known as walker-warburg syndrome or muscle-eye-brain disease, large-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5


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' (Beltran-Valero de Bernabe et al., 2004).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, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

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Medium 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

Medium match HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS


Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.

HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS Is also known as glutamic acid, deficient gamma-carboxylation of|familial multiple coagulation factor deficiency iii|vitamin k-dependent coagulation defect|fmfd iii|hereditary combined deficiency of factors ii, vii, ix and x|multiple coagulation factor deficiency iii|mcfd

Related symptoms:

  • Cataract
  • Hydrocephalus
  • Short nose
  • Congenital cataract
  • Malabsorption


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS

Medium match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Medium match MECKEL SYNDROME


Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Medium 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

Medium 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

Medium match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Top 5 symptoms//phenotypes associated to Cataract and Dandy-Walker malformation

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cerebellar hypoplasia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Dandy-Walker malformation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Ventriculomegaly Optic atrophy Myopia Lissencephaly Microcephaly Low-set ears Congenital muscular dystrophy Muscular dystrophy Elevated serum creatine phosphokinase Type II lissencephaly Hyporeflexia Hypertelorism Microphthalmia Intellectual disability, profound Hypoplasia of the brainstem Cerebellar dysplasia Respiratory distress Cerebellar cyst Pachygyria Short nose Macrocephaly Retinal dysplasia Hypoplasia of the corpus callosum Retinal detachment Agyria Severe muscular hypotonia Encephalocele Flexion contracture Absent speech Congenital cataract Polymicrogyria Heterotopia Feeding difficulties Areflexia Dilatation Abnormality of the cerebral white matter

Rare Symptoms - Less than 30% cases


Optic nerve hypoplasia Adducted thumb Peters anomaly Blindness Remnants of the hyaloid vascular system Muscular hypotonia Posteriorly rotated ears Anteverted nares High palate Short distal phalanx of finger Anophthalmia Short phalanx of finger Talipes Cystic hygroma Aplasia/Hypoplasia of the corpus callosum Hand clenching Abnormal facial shape Delayed speech and language development Depressed nasal bridge Cleft palate Micrognathia Talipes equinovarus Agenesis of corpus callosum Protruding ear Microcornea Cryptorchidism Severe global developmental delay Aqueductal stenosis Cerebral atrophy Microtia Hearing impairment Cerebellar vermis hypoplasia Hypoplasia of the pons Respiratory insufficiency Coloboma Corneal opacity High myopia Cerebellar atrophy Severe hydrocephalus Glaucoma Retrognathia Frontal bossing Retinal dystrophy Occipital encephalocele Proptosis Hydronephrosis Cleft lip Retinopathy Anal atresia Cleft upper lip Oral cleft Iris coloboma Bifid uvula Absent septum pellucidum Hypoplasia of the iris Specific learning disability Hypoplasia of penis Renal dysplasia Atresia of the external auditory canal Congenital contracture Abnormality of neuronal migration Severe sensorineural hearing impairment Congenital glaucoma Myopathy Skeletal muscle atrophy Intellectual disability, severe Plagiocephaly Arthrogryposis multiplex congenita Hypermetropia Abnormality of eye movement Prominent nasal tip Cystic renal dysplasia Abnormality of the foot Webbed neck Hypotelorism Apraxia Oculomotor apraxia Cutaneous syndactyly Retinal atrophy Scrotal hypoplasia Pleural effusion Overlapping toe Pericardial effusion Overlapping fingers Kinked brainstem Growth delay Muscle weakness Nystagmus Intrauterine growth retardation Submucous cleft hard palate Bilateral cleft lip Megalocornea Bulbous nose Long philtrum Abnormal heart morphology Recurrent respiratory infections High forehead Coarse facial features Neonatal hypotonia Abnormality of the nervous system Respiratory tract infection Wide mouth Nail dystrophy Downturned corners of mouth Brachydactyly Everted lower lip vermilion Polyneuropathy Prominent nose Nail dysplasia Abnormality of the skin Renal agenesis Bilateral sensorineural hearing impairment Hypsarrhythmia Small nail Abnormality of the fingernails Wide nasal bridge Peripheral neuropathy Abnormal dermatoglyphics Metatarsus valgus Abnormal cortical gyration Abnormality of the optic nerve Buphthalmos Muscle fiber splitting Excessive daytime sleepiness Camptodactyly Meningoencephalocele Hypoglycosylation of alpha-dystroglycan Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Macrogyria Epicanthus Abnormal lactate dehydrogenase activity Chorioretinal dysplasia Hypoplastic male external genitalia Aplasia/Hypoplasia involving the skeletal musculature Infantile spasms Thick cerebral cortex Abnormal aldolase level Anonychia Sensorineural hearing impairment Triphalangeal thumb Posterior fossa cyst Decreased fetal movement Micropenis Tremor Abnormality of the cervical spine Calcification of cartilage Congenital shortened small intestine Scoliosis Ataxia Failure to thrive Abnormality of skin pigmentation Spasticity Visual impairment Hyperreflexia Abnormality of the dentition Joint hemorrhage Dystonia Kyphosis Motor delay Gait ataxia Kyphoscoliosis Frontoparietal polymicrogyria Joint stiffness Distal muscle weakness Pectus carinatum Diffuse white matter abnormalities Ectopic calcification Peripheral pulmonary artery stenosis Joint hypermobility Epistaxis Facial palsy Large fontanelles Deeply set eye Partial agenesis of the corpus callosum Weak cry Gonadal dysgenesis Corpus callosum atrophy Malabsorption Bruising susceptibility Abnormal bleeding Left ventricular hypertrophy Prolonged partial thromboplastin time Abnormal vertebral morphology Intracranial hemorrhage Cupped ear Intestinal obstruction Cerebral hemorrhage Celiac disease Ventricular hypertrophy Epiphyseal stippling Pulmonary artery stenosis Ecchymosis Dysmetria Inability to walk Upslanted palpebral fissure Aplasia/Hypoplasia of the iris Anencephaly Male pseudohermaphroditism Postaxial foot polydactyly Sclerocornea Asplenia Furrowed tongue Congenital hepatic fibrosis Ureteral duplication Pancreatic cysts Accessory spleen Abnormal chorioretinal morphology Neurodegeneration Urethral atresia Aplasia/Hypoplasia of the tongue Pancreatic fibrosis True hermaphroditism Lobar holoprosencephaly Cystic liver disease Strabismus Edema Behavioral abnormality Clinodactyly Preaxial hand polydactyly Neutropenia Generalized-onset seizure Rotary nystagmus Narrow forehead Fine hair Choreoathetosis Broad-based gait Abnormal autonomic nervous system physiology Sparse eyelashes Brittle hair Sparse eyebrow Decreased serum ceruloplasmin Hypocupremia CNS hypomyelination Multicystic kidney dysplasia Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Full cheeks Postaxial hand polydactyly Sloping forehead Oligohydramnios Ambiguous genitalia Depressed nasal ridge Bowing of the long bones Situs inversus totalis Profound sensorineural hearing impairment



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