Microcephaly, and Rod-cone dystrophy

Diseases related with Microcephaly and Rod-cone dystrophy

In the following list you will find some of the most common rare diseases related to Microcephaly and Rod-cone dystrophy that can help you solving undiagnosed cases.

Top matches:

BBS20 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 20; BBS20

CHROMOSOME XP11.3 DELETION SYNDROME Is also known as mental retardation, x-linked, with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Visual impairment
  • Blindness


SOURCES: OMIM MENDELIAN

More info about CHROMOSOME XP11.3 DELETION SYNDROME

Early infantile epileptic encephalopathy-48 is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech, poor, if any, motor development, and onset of seizures in the first year of life. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by Assoum et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48

Other less relevant matches:

Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3

Medium match LOWRY-WOOD SYNDROME

Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa (see this term) and coxa vara. Transmission appears to be autosomal recessive.

LOWRY-WOOD SYNDROME Is also known as lowry-wood syndrome|lws|epiphyseal dysplasia-microcephaly-nystagmus syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Nystagmus
  • Visual impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LOWRY-WOOD SYNDROME

Medium match CLN1 DISEASE

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children.Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid LipofuscinosisSee also CLN2 (OMIM ), caused by mutation in the TPP1 gene (OMIM ) on chromosome 11p15; CLN3 (OMIM ), caused by mutation in the CLN3 gene (OMIM ) on 16p12; CLN4A (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN4B (OMIM ), caused by mutation in the DNAJC5 gene (OMIM ) on 20q13; CLN5 (OMIM ), caused by mutation in the CLN5 gene (OMIM ) on 13q; CLN6 (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN7 (OMIM ), caused by mutation in the MFSD8 gene (OMIM ) on 4q28; CLN8 (OMIM ) and the Northern epilepsy variant of CLN8 (OMIM ), caused by mutation in the CLN8 gene (OMIM ) on 8pter; CLN10 (OMIM ), caused by mutation in the CTSD gene (OMIM ) on 11p15; CLN11 (OMIM ), caused by mutation in the GRN gene (OMIM ) on 17q; CLN13 (OMIM ), caused by mutation in the CTSF gene (OMIM ) on 11q13; and CLN14 (OMIM ), caused by mutation in the KCTD7 gene (OMIM ) on 7q11.CLN9 (OMIM ) has not been molecularly characterized.A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS ).

CLN1 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 1, variable age at onset

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN1 DISEASE

Medium match SLC35A2-CDG

SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).

SLC35A2-CDG Is also known as cdg iim|congenital disorder of glycosylation type iim|cdgiim|eiee22|cdg2m|congenital disorder of glycosylation type 2m|cdg syndrome type iim|cdg-iim|epileptic encephalopathy, early infantile, 22

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SLC35A2-CDG

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency|ceroid lipofuscinosis, neuronal, cathepsin d-deficient

Related symptoms:

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency|isolated ubiquinone-cytochrome c reductase deficiency|isolated mitochondrial respiratory chain complex iii deficiency|isolated coenzyme q-cytochrome c reductase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED COMPLEX III DEFICIENCY

Top 5 symptoms//phenotypes associated to Microcephaly and Rod-cone dystrophy

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Cerebral atrophy Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Rod-cone dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar atrophy Blindness Short stature Feeding difficulties Encephalopathy Abnormal facial shape Hearing impairment Dementia Spasticity Low-set ears Ataxia Visual loss Nystagmus Delayed myelination Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases

Wide nasal bridge Brachydactyly Small for gestational age Astigmatism Sensorineural hearing impairment Failure to thrive Muscular hypotonia Cardiomyopathy Peripheral neuropathy Open mouth Optic atrophy Depressivity Abnormality of metabolism/homeostasis Coarse facial features Gastroesophageal reflux EEG abnormality Mental deterioration Nevus Postnatal microcephaly Hallucinations Loss of speech Tapetoretinal degeneration Increased neuronal autofluorescent lipopigment Intracellular accumulation of autofluorescent lipopigment storage material Mandibular prognathia Sleep disturbance Recurrent infections Absent speech Visual impairment Polydactyly Epicanthus Hypertelorism Strabismus Epileptic encephalopathy Hypsarrhythmia Status epilepticus Hyperreflexia Congenital diaphragmatic hernia Cerebral visual impairment Skeletal muscle atrophy Pointed chin Abnormality of the outer ear Cone/cone-rod dystrophy Muscle weakness Hypoglycemic seizures Cognitive impairment Focal impaired awareness seizure Self-injurious behavior Bilateral sensorineural hearing impairment Cataract Abnormality of visual evoked potentials Facial hypotonia Abnormal electroretinogram Flat face Focal-onset seizure Constipation Premature closure of fontanelles Obesity High palate Depressed nasal bridge Myopia Short neck Behavioral abnormality Abnormality of cardiovascular system morphology Midface retrusion Hernia Posteriorly rotated ears Broad nasal tip Brachycephaly Hyperactivity Narrow mouth Autism Thin upper lip vermilion Joint laxity Coloboma Short philtrum Hypermetropia Iris coloboma Downturned corners of mouth Acidosis Vomiting Hyperphosphaturia Ragged-red muscle fibers Brittle hair Nephritis Emotional lability Abnormality of the coagulation cascade Glycosuria Rhabdomyolysis Myoglobinuria Tubulointerstitial nephritis Cholangitis Severe muscular hypotonia Proximal tubulopathy Hyperechogenic kidneys Microvesicular hepatic steatosis Abnormality of the abdominal wall Food intolerance Histiocytoid cardiomyopathy Mitochondrial encephalopathy Persistent lactic acidosis Decreased mitochondrial complex III activity in liver tissue Spastic tetraparesis Exercise intolerance Hypertonia Lactic acidosis Retinal atrophy Hypoglycemia Elevated hepatic transaminase Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Feeding difficulties in infancy Developmental regression Retinopathy Congenital cataract Hepatic failure Aminoaciduria Sensory neuropathy Metabolic acidosis Coma Increased serum lactate Pigmentary retinopathy Cardiomegaly Tetraparesis Hypertrichosis Cholestasis Decreased liver function Central apnea Cyanosis Sensory axonal neuropathy Squared iliac bones Dislocated radial head Congenital nystagmus Patellar dislocation Multiple epiphyseal dysplasia Irregular epiphyses Small epiphyses Shallow acetabular fossae Multiple joint dislocation Abnormality of nail color Elbow dislocation Short nose Intrauterine growth retardation Cryptorchidism Flexion contracture Growth delay Scoliosis Profound global developmental delay Myoclonus Poor eye contact Limited elbow extension Epiphyseal dysplasia Neurodegeneration Arthralgia Recurrent upper respiratory tract infections Agammaglobulinemia Respiratory tract infection Hypoplastic ischia Conductive hearing impairment Hypospadias Intellectual disability, mild Delayed skeletal maturation Joint stiffness Aplasia/Hypoplasia of the corpus callosum Hip dislocation Platyspondyly Genu valgum Immunodeficiency Hip dysplasia Abnormality of epiphysis morphology Abnormality of retinal pigmentation Joint dislocation Coxa vara Irritability Parkinsonism Intellectual disability, progressive Myopathy Epileptic spasms Aplasia/hypoplasia of the extremities Ocular flutter Tremor Respiratory insufficiency Respiratory distress Hypogonadism Intellectual disability, severe Respiratory failure Intellectual disability, moderate Rigidity Apnea Peripheral axonal neuropathy Gliosis Neuronal loss in central nervous system Decreased antibody level in blood Generalized-onset seizure Sloping forehead Bradycardia Nephrotic syndrome Thick vermilion border Brain atrophy Undetectable electroretinogram Progressive visual loss Progressive microcephaly Macular degeneration Global brain atrophy Muscle fibrillation Peripheral visual field loss Dyskinesia Progressive encephalopathy Visual hallucinations Motor deterioration Thick eyebrow Decreased light- and dark-adapted electroretinogram amplitude Psychomotor deterioration Vacuolated lymphocytes Pallor Hyporeflexia Cerebellar hypoplasia Ventriculomegaly Chorioretinal degeneration Nyctalopia Postterm pregnancy


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