Global developmental delay, and Congenital cataract

Diseases related with Global developmental delay and Congenital cataract

In the following list you will find some of the most common rare diseases related to Global developmental delay and Congenital cataract that can help you solving undiagnosed cases.

Top matches:

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.

CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME Is also known as myopathy with cataract and combined respiratory chain deficiency|mitochondrial complex deficiency, combined|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-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

SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency|sterol-c4-methyl oxidase deficiency|sc4mol deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

Other less relevant matches:

Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

HYPOMYELINATION-CONGENITAL CATARACT SYNDROME Is also known as hypomyelination and congenital cataract: hcc

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOMYELINATION-CONGENITAL CATARACT SYNDROME

3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form

3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM Is also known as phgdh deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM

Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

Porencephaly-microcephaly-bilateral congenital cataract syndrome is a rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cataract
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORENCEPHALY-MICROCEPHALY-BILATERAL CONGENITAL CATARACT SYNDROME

Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by Schoch et al., 2017).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES-STEREOTYPIC HAND MOVEMENT-BILATERAL CATARACT

Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.

NANCE-HORAN SYNDROME Is also known as cataract-dental syndrome|mesiodens-cataract syndrome|cataract, x-linked, with hutchinsonian teeth

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Cataract


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NANCE-HORAN SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Congenital cataract. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Spasticity Growth delay Flexion contracture Absent speech

Rare Symptoms - Less than 30% cases

Developmental regression CNS hypomyelination Hyperreflexia Feeding difficulties Poor head control Scoliosis Delayed myelination Cerebellar hypoplasia Intellectual disability, mild Abnormality of the cerebral white matter Failure to thrive Hypsarrhythmia Ventriculomegaly Edema Intellectual disability, moderate Microphthalmia Hearing impairment Muscular hypotonia of the trunk Rotary nystagmus Ptosis Cerebral atrophy Muscle weakness Narrow face Hydronephrosis Dysphagia Hyporeflexia Gastroesophageal reflux Mesiodens Inability to walk Hypertension Renal hypoplasia Nephrolithiasis Aminoaciduria Nephrocalcinosis Sutural cataract Optic atrophy Postnatal microcephaly Cystic renal dysplasia Hepatomegaly Supernumerary maxillary incisor Brain atrophy Decreased fetal movement Cutaneous photosensitivity Rocker bottom foot Cryptorchidism Dilatation Ectopic kidney Polydactyly Abnormality of the kidney Posterior Y-sutural cataract Cerebral calcification Progressive neurologic deterioration Delayed speech and language development Calcinosis Broad nasal tip Difficulty walking Blurred vision Macrotia Protruding ear Autistic behavior Prominent nasal bridge Increased number of teeth Narrow nasal bridge Hypophosphatemia Autism Long face Retinal detachment Microcornea Widely spaced teeth Short metacarpal Prominent nose Mandibular prognathia Reduced visual acuity Irritability Cognitive impairment Short phalanx of finger Multiple impacted teeth Stereotypy Mutism Strabismus Broad finger Visual impairment Glaucoma Diastema Anodontia Blindness Pendular nystagmus Severe vision loss Behavioral abnormality Visual loss Abnormality of the dentition Spastic tetraplegia Arthrogryposis multiplex congenita Ichthyosis Hypocupremia Decreased serum ceruloplasmin Short stature Delayed skeletal maturation Arthralgia Delayed puberty Inflammatory abnormality of the skin Dandy-Walker malformation Psoriasiform dermatitis Erythroderma Blepharitis Immune dysregulation Hypocholesterolemia Decreased LDL cholesterol concentration Cerebellar vermis hypoplasia Neutropenia Motor delay Reduced tendon reflexes Sensorineural hearing impairment Muscular hypotonia Hypoplasia of the corpus callosum Myopathy Lactic acidosis Progressive hearing impairment Bilateral ptosis Neurodegeneration Progressive sensorineural hearing impairment Decreased activity of mitochondrial respiratory chain Infantile axial hypotonia Decreased serum ferritin Abnormal muscle fiber protein expression Cerebellar atrophy Severe global developmental delay Ataxia Peripheral neuropathy Talipes equinovarus Decreased testicular size Truncal titubation Progressive cataract Hypertonia Thrombocytopenia Hypogonadism Postnatal growth retardation Adducted thumb Cerebral hypomyelination Megaloblastic anemia Congenital microcephaly Cerebral dysmyelination Micrognathia Cleft palate Low-set ears Intrauterine growth retardation Cerebral white matter atrophy Loss of ability to walk Dysarthria Abnormal cerebellum morphology Tremor Babinski sign Abnormal pyramidal sign Poor speech Lower limb muscle weakness Polyneuropathy Intention tremor Lower limb amyotrophy Leukodystrophy Decreased motor nerve conduction velocity Axonal degeneration Axonal loss Onion bulb formation Titubation Motor polyneuropathy Screwdriver-shaped incisors


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