Cataract, and Agenesis of corpus callosum

Diseases related with Cataract and Agenesis of corpus callosum

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


Top matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69


Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69 Is also known as spg69

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Cataract
  • Intellectual disability, mild
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69

Low match JOUBERT SYNDROME 9; JBTS9


Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 9; JBTS9

Low match HOLOPROSENCEPHALY 2; HPE2


A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

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Other less relevant matches:

Low match CLOVES SYNDROME


CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.

CLOVES SYNDROME Is also known as cloves syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|clove syndrome|congenital lipomatous overgrowth,

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Cataract
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLOVES SYNDROME

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder 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 Stevens et al., 2013).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, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

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 CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Low match TETRA-AMELIA


Tetraamelia syndrome-1 is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndromeTetraamelia syndrome-2 (TETAMS2 ) is caused by mutation in the RSPO2 gene (OMIM ) on chromosome 8q23.

TETRA-AMELIA Is also known as total amelia|tetraamelia syndrome, autosomal recessive

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cataract
  • Low-set ears
  • Hydrocephalus


SOURCES: OMIM ORPHANET MENDELIAN

More info about TETRA-AMELIA

Low match TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME


Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Optic atrophy
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

Low match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

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

Symptoms // Phenotype % cases
Microphthalmia Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Coloboma Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Agenesis of corpus callosum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcornea Cerebellar hypoplasia Low-set ears Ptosis Ventriculomegaly Nystagmus Microcephaly Seizures Astigmatism Cleft palate Iris coloboma Scoliosis Generalized hypotonia Encephalocele Cerebellar vermis hypoplasia Macrocephaly Micrognathia

Rare Symptoms - Less than 30% cases


Muscular dystrophy Renal agenesis Constipation Hemimegalencephaly Cleft lip Optic nerve hypoplasia Hypoplasia of the brainstem Congenital muscular dystrophy Lissencephaly Peters anomaly Chronic constipation Preaxial polydactyly Facial asymmetry Elevated serum creatine phosphokinase Tetraamelia Glaucoma Vaginal atresia Horizontal nystagmus Intestinal malrotation Type II lissencephaly Polymicrogyria Oral cleft Hypertelorism Abnormal facial shape Agyria Polydactyly Partial agenesis of the corpus callosum Hearing impairment Anal atresia Deeply set eye Polyhydramnios Microtia Patent ductus arteriosus Arnold-Chiari type I malformation Medulloblastoma Abnormality of thumb phalanx Duplication of thumb phalanx Optic nerve coloboma Anterior plagiocephaly Cutaneous syndactyly of toes Cleft upper lip Abnormality of the skin Foot polydactyly Hirsutism Corpus callosum atrophy Remnants of the hyaloid vascular system Syndactyly Brachycephaly Carcinoma Craniosynostosis Blepharophimosis Finger syndactyly Toe syndactyly Choanal atresia Anal stenosis Broad thumb Generalized hirsutism Narrow palpebral fissure Hypopigmented skin patches Bilateral ptosis Preaxial hand polydactyly Basal cell carcinoma Aplasia/Hypoplasia of the skin Cutaneous finger syndactyly Pulmonary hypoplasia Urethral atresia Abnormality of the genital system Prominent nose Septo-optic dysplasia Aplasia/Hypoplasia involving the nose Aplasia/Hypoplasia involving the pelvis Cognitive impairment Wide nasal bridge Myopathy Hydronephrosis Abnormality of the pinna Wide mouth Prominent nasal bridge Malabsorption Renal hypoplasia Aplasia/Hypoplasia of the nipples Short palpebral fissure Short columella Sclerocornea Duodenal atresia Ectopia pupillae Sex reversal Intestinal atresia Accessory spleen Retinal vascular tortuosity Bilateral renal hypoplasia Hypoplastic iris stroma Jejunal atresia Abnormally ossified vertebrae Abnormality of the larynx Renal dysplasia Absent external genitalia Anencephaly Bilateral cleft lip Single umbilical artery Asplenia Hypoplastic pelvis Amniotic constriction ring Long penis Phocomelia Gastroschisis Abnormality of the diaphragm Gonadal dysgenesis Amelia Single naris Tracheal stenosis Tetraphocomelia Hypoplasia of the fallopian tube Adrenal gland agenesis Peripheral pulmonary vessel aplasia Cryptorchidism Optic atrophy Narrow mouth Abnormality of the ribs Multicystic kidney dysplasia Abnormal lung lobation Aplasia/Hypoplasia of the lungs Missing ribs Retinal dysplasia Retinal coloboma Weak cry Hypoplastic philtrum Holoprosencephaly Diabetes insipidus Narrow nasal bridge Submucous cleft hard palate Adrenal hypoplasia Median cleft lip and palate Single median maxillary incisor Cyclopia Single ventricle Proboscis Absent nasal septal cartilage Hypotelorism Aplasia of the nose Anterior pituitary agenesis Abnormality of the skeletal system Splenomegaly Hypoglycemia Congenital cataract Nevus Overgrowth Generalized-onset seizure Insulin resistance Exotropia Bifid uvula Renal hypoplasia/aplasia Hepatosplenomegaly Intellectual disability, mild Cerebral cortical atrophy Abnormality of movement Lower limb spasticity Progressive spastic paraplegia Hand tremor Spastic dysarthria Abnormal myelination Aplasia/Hypoplasia of the cerebellar vermis Rod-cone dystrophy Intellectual disability, moderate Midface retrusion Abnormality of the eye Abnormality of eye movement Retinal dystrophy Hepatic fibrosis Molar tooth sign on MRI Strabismus Muscular hypotonia Anteverted nares Short nose Malar flattening Sandal gap Lipoatrophy Adducted thumb Respiratory insufficiency Progressive microcephaly Respiratory insufficiency due to muscle weakness Arnold-Chiari malformation Poor head control CNS hypomyelination Occipital encephalocele Hypoventilation Abnormally large globe Cortical cataract Frontal bossing Hypoplasia of the corpus callosum Bilateral sensorineural hearing impairment Areflexia Retrognathia Facial palsy Retinal detachment Dandy-Walker malformation Decreased fetal movement Intellectual disability, profound Pachygyria Heterotopia Large fontanelles High myopia Retinal degeneration Lipoma Encephalomalacia Lower limb asymmetry Hemihypertrophy Tethered cord Spinal dysraphism Cranial hyperostosis Venous malformation Capillary malformation Cranial asymmetry Epidermal nevus Macrodactyly Epididymal cyst Poor speech Splayed toes Enlarged peripheral nerve Pelvic mass Sensorineural hearing impairment Muscle weakness Flexion contracture Feeding difficulties Myopia Reduced visual acuity Neonatal hypotonia Severe global developmental delay Corneal astigmatism



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