Cataract, and Delayed speech and language development

Diseases related with Cataract and Delayed speech and language development

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

Top matches:

Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'

CATARACT 21, MULTIPLE TYPES; CTRCT21 Is also known as cataract, congenital, cerulean type, 4|cataract, pulverulent, juvenile-onset|cca4|cataract 21, multiple types, with or without microcornea

Related symptoms:

  • Cataract
  • Delayed speech and language development
  • Atrial septal defect
  • Microphthalmia
  • Autism


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT 21, MULTIPLE TYPES; CTRCT21

Related symptoms:

  • Ataxia
  • Growth delay
  • Nystagmus
  • Cataract
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

Low match MORM SYNDROME

MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.

MORM SYNDROME Is also known as morm syndrome|mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome|intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cataract
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MORM SYNDROME

Other less relevant matches:

Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.

GYRATE ATROPHY OF CHOROID AND RETINA Is also known as ornithine-delta-aminotransferase deficiency|hoga|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|gyrate atrophy|oat deficiency|ornithine aminotransferase deficiency|hyperornithinemia|ornithine keto acid aminotransferase deficiency|okt defi

Related symptoms:

  • Intellectual disability
  • Cataract
  • Delayed speech and language development
  • Myopia
  • Blindness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GYRATE ATROPHY OF CHOROID AND RETINA

Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016).For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 8; LIS8

Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).

GALACTOSE EPIMERASE DEFICIENCY Is also known as udp-galactose-4-epimerase deficiency|gale deficiency|galactosemia iii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSE EPIMERASE DEFICIENCY

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

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. 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 Geis et al., 2013 and Riemersma et al., 2015).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, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Top 5 symptoms//phenotypes associated to Cataract and Delayed speech and language development

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Absent speech Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cataract and Delayed speech and language development. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Nystagmus Microphthalmia Intellectual disability, severe Myopia Cerebellar atrophy Muscular hypotonia Growth delay

Rare Symptoms - Less than 30% cases

Retinal dystrophy Spasticity Intellectual disability, moderate Short stature Polymicrogyria Hearing impairment Abnormality of metabolism/homeostasis Lissencephaly Abnormality of the cerebral white matter Abnormal facial shape Cerebellar vermis hypoplasia Abnormality of the eye Myopathy Congenital cataract Strabismus Ventriculomegaly Pes planus Hypoplasia of the corpus callosum Ataxia Dysarthria Gait ataxia Elevated serum creatine phosphokinase Hypoplasia of the brainstem Truncal ataxia Abnormality of vision Pachygyria Rotary nystagmus Cerebral palsy Decreased serum ceruloplasmin Broad-based gait Babinski sign Cognitive impairment Motor delay Hyperreflexia Skeletal muscle atrophy Tremor Gait disturbance Cerebellar hypoplasia Intention tremor Hypocupremia Neonatal hypotonia Abnormality of movement Dysmetria Arachnodactyly Progressive cerebellar ataxia Poor speech Epicanthus Dysdiadochokinesis Cerebral calcification Macrocephaly Hydrocephalus Dilatation Glaucoma Respiratory failure Corneal opacity Muscular dystrophy High myopia Broad hallux Intellectual disability, profound Leukodystrophy Holoprosencephaly Poor head control Congenital muscular dystrophy Buphthalmos Cerebellar cyst Slender finger Overlapping toe Toe walking Upslanted palpebral fissure Cortical gyral simplification Gaze-evoked nystagmus Nonprogressive cerebellar ataxia Hypertelorism Micrognathia Abnormality of the skeletal system Clinodactyly Narrow mouth Sandal gap Thin upper lip vermilion Hypermetropia Small hand Broad nasal tip Prominent nose Underdeveloped nasal alae Short palpebral fissure Postnatal microcephaly CNS hypomyelination Vomiting Dandy-Walker malformation Polydactyly Glucose intolerance Hyperammonemia EMG abnormality Retinal degeneration Nyctalopia Proximal muscle weakness EEG abnormality Visual loss Intellectual disability, mild Blindness Childhood-onset truncal obesity Truncal obesity Reduced visual acuity Micropenis Obesity Subcapsular cataract Microcornea Atrial septal defect Autism Autistic behavior Coloboma Iris coloboma Retinal detachment Bifid uvula Visual impairment Macular hypoplasia Cerulean cataract Cortical pulverulent cataract Unsteady gait Limb ataxia Spastic gait Chorioretinal atrophy Retinal atrophy Neutropenia Feeding difficulties Neurodegeneration Severe global developmental delay Cerebral atrophy Impairment of galactose metabolism Galactosuria Hypergalactosemia Delayed gross motor development Aminoaciduria Aciduria Nausea and vomiting Jaundice Weight loss Splenomegaly Hepatomegaly Sensorineural hearing impairment Posterior subcapsular cataract Talipes equinovarus Muscle fiber atrophy Chorioretinal degeneration Hyperlysinuria Ornithinuria Hyperornithinemia Optic atrophy Muscular hypotonia of the trunk Failure to thrive Generalized myoclonic seizures Encephalocele Occipital encephalocele Delayed ability to walk Abnormal myelination Type II lissencephaly Agyria


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