Cataract, and Neonatal hypotonia

Diseases related with Cataract and Neonatal hypotonia

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


Top matches:

Low match PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A

Low match DYSEQUILIBRIUM 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

Low match PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A

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Other less relevant matches:

Low match PEROXISOME BIOGENESIS DISORDER 8B; PBD8B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8B; PBD8B

Low match SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY


Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

Low match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Low match PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

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, 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

Low match REFSUM DISEASE, CLASSIC


Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

Top 5 symptoms//phenotypes associated to Cataract and Neonatal hypotonia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Epiphyseal stippling Severe global developmental delay Nystagmus Cerebellar hypoplasia Feeding difficulties Hypoplasia of the brainstem Hearing impairment Sensorineural hearing impairment Microphthalmia Flexion contracture Hypertelorism Growth delay Spasticity Generalized neonatal hypotonia Hepatomegaly Ataxia Muscular hypotonia

Rare Symptoms - Less than 30% cases


High palate Lissencephaly Short stature Scoliosis Cognitive impairment Downslanted palpebral fissures Cleft palate Low-set ears Abnormality of the cerebral white matter Pachygyria Type II lissencephaly Long philtrum High forehead Congenital muscular dystrophy Polymicrogyria Severe muscular hypotonia Peripheral neuropathy Visual impairment Congenital cataract Jaundice Coloboma Encephalocele Ventricular septal defect Cerebellar vermis hypoplasia Delayed speech and language development Congestive heart failure Myopia Dysarthria Leukodystrophy Ventriculomegaly Hydrocephalus Intellectual disability, severe Cerebellar atrophy Elevated serum creatine phosphokinase Glaucoma Muscle weakness Ptosis Muscular dystrophy Retinal degeneration Poor speech Dysmetria Arachnodactyly Failure to thrive Respiratory insufficiency Retinal coloboma Abnormally large globe Cortical cataract Agyria Respiratory insufficiency due to muscle weakness Hypoventilation Occipital encephalocele CNS hypomyelination Poor head control Arnold-Chiari malformation Right aortic arch Progressive microcephaly Dilatation Bilateral sensorineural hearing impairment Polyhydramnios Reduced visual acuity Agenesis of corpus callosum Macrocephaly High myopia Buphthalmos Cleft lip Sensorimotor neuropathy Rod-cone dystrophy Nyctalopia Limb muscle weakness Ichthyosis Polyneuropathy Renal cyst Sensory impairment Pigmentary retinopathy Cardiomegaly Progressive hearing impairment Hyporeflexia Anosmia Bilateral ptosis Epiphyseal dysplasia Increased CSF protein Multiple epiphyseal dysplasia Miosis Abnormal renal physiology Short fourth metatarsal Hyperoxaluria Pes cavus Arrhythmia Hypermetropia Abnormality of the periventricular white matter Cleft upper lip Macroglossia Intellectual disability, profound Heterotopia Aplasia/Hypoplasia of the corpus callosum Congenital contracture Skeletal muscle hypertrophy Congenital glaucoma Spinal rigidity Retinal atrophy Blindness Hypoplasia of the pons Secundum atrial septal defect Peters anomaly Cerebellar dysplasia Cerebellar cyst Persistent pupillary membrane Moderate myopia Wide nasal bridge Cardiomyopathy Perimembranous ventricular septal defect Behavioral abnormality Decreased fetal movement Posteriorly rotated ears Abnormality of vision Dysdiadochokinesis Toe walking Cortical gyral simplification Gaze-evoked nystagmus Nonprogressive cerebellar ataxia Talipes equinovarus Talipes Truncal ataxia Flat face Flat occiput Bilateral talipes equinovarus Cardiorespiratory arrest Optic atrophy Dysphagia Constipation Falls Cerebral palsy Broad-based gait Sensory neuropathy Gait disturbance Feeding difficulties in infancy Glossoptosis Strabismus Motor delay Hyperreflexia Skeletal muscle atrophy Tremor Abnormality of metabolism/homeostasis Intention tremor Absent speech Babinski sign Gait ataxia Pes planus Intellectual disability, moderate Abnormality of the eye Abnormality of movement Progressive cerebellar ataxia Retinal dystrophy Frequent falls Prominent nose Abnormal oral frenulum morphology Small for gestational age Toe syndactyly Interphalangeal joint contracture of finger Long fingers Central apnea Small face Hand clenching Abnormality iris morphology Camptodactyly of finger Bullet-shaped distal phalanx of the hallux Micrognathia Epicanthus Atrial septal defect Areflexia Broad forehead Pulmonic stenosis Round face Short philtrum Autistic behavior Lower limb spasticity Macrotia Decreased liver function Spastic paraparesis Cerebellar vermis atrophy Corpus callosum atrophy Very long chain fatty acid accumulation Abnormal facial shape Abnormality of the skeletal system Short nose Coarse facial features Low-set, posteriorly rotated ears Thin upper lip vermilion Smooth philtrum Highly arched eyebrow Tetraparesis Rhizomelia Spastic tetraparesis Progressive spastic quadriplegia Short neck Elevated levels of phytanic acid



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