Microphthalmia, and Spastic paraplegia

Diseases related with Microphthalmia and Spastic paraplegia

In the following list you will find some of the most common rare diseases related to Microphthalmia and Spastic paraplegia that can help you solving undiagnosed cases.

Top matches:

Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Other less relevant matches:

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.

OCULOFACIOCARDIODENTAL SYNDROME Is also known as oculofaciocardiodental syndrome|anop2, formerly|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|microphthalmia, cataracts, radiculomegaly, and septal heart defects|maa2, formerly|ofcd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOFACIOCARDIODENTAL SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE; MCPH20

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

Medium match REFSUM DISEASE

Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

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' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Top 5 symptoms//phenotypes associated to Microphthalmia and Spastic paraplegia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Microphthalmia and Spastic paraplegia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Micrognathia Hearing impairment Generalized hypotonia Congenital cataract Glaucoma Ventricular septal defect Visual impairment Ptosis Ataxia Coloboma Intellectual disability, mild Intellectual disability, severe Spastic paraparesis Spasticity Abnormal facial shape Short stature Cleft palate Myopia Hypoplasia of the corpus callosum Abnormality of the nervous system Sparse hair Scoliosis Deeply set eye Microcornea Abnormality of the cerebral white matter Brachycephaly Iris coloboma Tetraparesis Sensorineural hearing impairment Paraparesis Spastic tetraparesis Severe global developmental delay Hydrocephalus Cryptorchidism Muscular hypotonia Malar flattening Feeding difficulties Hypertonia Delayed speech and language development Blindness Abnormality of the skeletal system Optic atrophy Clinodactyly of the 5th finger Atrial septal defect Agenesis of corpus callosum Skeletal muscle atrophy Pes cavus Gait disturbance

Rare Symptoms - Less than 30% cases

Abnormal form of the vertebral bodies Short palpebral fissure Abnormality of vision Ventriculomegaly Aplasia/Hypoplasia of the cerebellum Syndactyly Cerebral calcification Toe syndactyly Abnormality of the eye Conductive hearing impairment Anteverted nares Abnormality of the dentition Umbilical hernia Failure to thrive Basal ganglia calcification Visual loss Abnormality of cardiovascular system morphology Short nose Blepharophimosis Wide nasal bridge Retinal dysplasia Congenital glaucoma Abnormal palate morphology Genu valgum Prominent nasal bridge Abnormal pyramidal sign Developmental regression Aggressive behavior Hypothyroidism Autism Midface retrusion Myopathy Peripheral neuropathy Flexion contracture Neoplasm Motor delay Broad nasal tip Optic nerve hypoplasia Spastic tetraplegia Tetraplegia Retinal detachment Hammertoe Growth delay Anophthalmia Retinopathy Dilatation Cardiomyopathy Cerebellar hypoplasia Hyperactivity Neurological speech impairment Abnormality of the foot Delayed gross motor development Elevated serum creatine phosphokinase Cubitus valgus Dysarthria Diabetes mellitus Cerebral atrophy Hypospadias Pectus excavatum Abnormal heart morphology Paraplegia Renal hypoplasia Upslanted palpebral fissure Narrow mouth Behavioral abnormality Mandibular prognathia Hypermetropia Macrotia High hypermetropia Narrow face Camptodactyly Protruding ear Long philtrum Alopecia High palate High, narrow palate Hyperreflexia Muscle weakness Hypoplasia of the maxilla Cognitive impairment Hemiplegia/hemiparesis Anteverted ears Epicanthus Broad columella Long face Pulmonic stenosis Increased number of teeth Highly arched eyebrow Type II lissencephaly Delayed eruption of teeth Posteriorly rotated ears Patent ductus arteriosus Bifid uvula Abnormal cardiac septum morphology Intestinal malrotation Dental malocclusion Feeding difficulties in infancy Vomiting Thick eyebrow Ectopia lentis Renal agenesis Short thumb Decreased light- and dark-adapted electroretinogram amplitude Radioulnar synostosis Cerebellar dysplasia Oligodontia Aortic valve stenosis Talipes equinovarus Buphthalmos Mitral valve prolapse Exotropia 2-3 toe syndactyly Adrenal insufficiency Dextrocardia Broad palm Decreased body weight Heart murmur Undetectable electroretinogram Abnormal glucose tolerance Cerebellar cyst Ankle clonus Poor coordination Irregular vertebral endplates Insulin-resistant diabetes mellitus Restlessness Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Mixed hearing impairment Hypoplasia of the retina Truncal obesity Anonychia Metatarsus adductus Bilateral cryptorchidism Melanocytic nevus Self-injurious behavior Schizophrenia Plagiocephaly Thoracic kyphosis Progressive gait ataxia Superiorly displaced ears Posterior polar cataract Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Hypoplasia of the pons Broad face Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Hypoglycosylation of alpha-dystroglycan Tics Uncontrolled eye movements Dystrophic fingernails Submucous cleft hard palate Peripheral pulmonary artery stenosis Double outlet right ventricle Pachygyria Respiratory insufficiency Uraciluria Reduced dihydropyrimidine dehydrogenase activity Intellectual disability, profound Recurrent aspiration pneumonia Stomatitis Diffuse cerebral atrophy Encephalocele Aspiration pneumonia Hypoventilation EMG abnormality High myopia Breast carcinoma Leukopenia Aspiration Febrile seizures Lethargy Opacification of the corneal stroma Knee flexion contracture Autistic behavior Weight loss Severe muscular hypotonia Splenomegaly Renal insufficiency Pneumonia Nail dysplasia Heart block Miosis Abnormality of retinal pigmentation Myoclonus EEG abnormality Neonatal hypotonia Pallor Abnormality of epiphysis morphology Muscular dystrophy Progressive visual loss Short metacarpal Abnormality of metabolism/homeostasis Ichthyosis Abnormality of movement Retinal degeneration Polymicrogyria Dry skin Everted lower lip vermilion Abnormality of eye movement Nyctalopia Skeletal dysplasia Generalized muscle weakness Holoprosencephaly Encephalopathy Misalignment of teeth Fused teeth Cortical dysplasia Retinal atrophy Attention deficit hyperactivity disorder Megalocornea Meningocele Absent speech Laterally curved eyebrow Flexion contracture of the 2nd toe Flexion contracture of the 4th toe Multiple unerupted teeth Transverse vaginal septum Hypoplasia of the brainstem Asymmetry of the ears Septate vagina Phthisis bulbi Remnants of the hyaloid vascular system Single median maxillary incisor Persistence of primary teeth Hand clenching Anosmia Bifid nasal tip Asplenia Poor speech Congenital muscular dystrophy Thrombocytopenia Congenital diaphragmatic hernia Diarrhea Lissencephaly Short nasal bridge Aplasia/Hypoplasia of the corpus callosum Fever Hepatomegaly Infantile muscular hypotonia Hypoplastic left atrium Bicornuate uterus Short chin Abnormality of the voice Cortical gyral simplification Chorea Wide nose Pulmonary hypoplasia Muscular hypotonia of the trunk Retrognathia Hernia Dystonia Depressed nasal bridge Small cerebral cortex Hyperechogenic kidneys Osteolysis Anterior segment developmental abnormality Hypergonadotropic hypogonadism Overgrowth Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Lymphedema Dental crowding Hypoplasia of dental enamel Abnormality of the metaphysis Fine hair Hypotelorism Microdontia Bilateral ptosis Underdeveloped nasal alae Palmoplantar keratoderma Flat face Cleft upper lip Paresthesia Carious teeth Hypotrichosis Hip dislocation Finger syndactyly Camptodactyly of finger Reduced number of teeth Preaxial polydactyly Hypoglycemia External ear malformation Short hallux Mild global developmental delay Low hanging columella Fragile nails Taurodontia Abnormality of the clavicle Hypoparathyroidism Narrow nose Median cleft lip Premature loss of teeth Brittle hair Hyperactive deep tendon reflexes Curly hair Metaphyseal dysplasia Narrow nasal bridge Progressive spasticity Abnormality of the ear Non-midline cleft lip Hyperostosis Preaxial hand polydactyly Hand polydactyly Abnormality of the pinna High forehead Abnormality of the nose Decreased testicular size Failure to thrive in infancy Nasal speech Poor suck Cachexia Abnormality of the hair Situs inversus totalis Joint contracture of the hand Abnormality of the ribs Tetralogy of Fallot Prominent nose Cupped ear Triangular face Bulbous nose Arachnodactyly Anal atresia Short philtrum Joint stiffness Anxiety Thin upper lip vermilion Severe short stature Intrauterine growth retardation Chorioretinal coloboma Mild short stature Polydactyly Phimosis Arrhythmia Clinodactyly Edema Brachydactyly Hypertelorism Abnormal hair laboratory examination Decreased head circumference Narrow foot Round ear Moderately short stature Spastic diplegia Macrodontia Thin eyebrow Heterotaxy Abnormality of the rib cage Small face Abnormality of the thumb Sparse lateral eyebrow Ankylosis Sprengel anomaly Prominent metopic ridge Abnormal cortical bone morphology Neurogenic bladder Clonus Polycoria Thalamic hemorrhage Posterior leukoencephalopathy Retinal arterial tortuosity Right hemiplegia Peripapillary atrophy Retinal arteriolar tortuosity Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Rieger anomaly Macrocephaly Arterial tortuosity Neuritis Retinal hemorrhage Migraine with aura Porencephalic cyst Hypopigmentation of the fundus Anterior synechiae of the anterior chamber Corneal neovascularization Supraventricular tachycardia Ectopia pupillae Anemia Downslanted palpebral fissures Hypoplasia of the iris Downturned corners of mouth Gynecomastia Thickened skin Sparse scalp hair Thick lower lip vermilion Bradykinesia Hip dysplasia Otitis media Nevus Neurodegeneration Short distal phalanx of finger Kyphosis Distal amyotrophy Narrow chest Synophrys Broad forehead Osteopenia Gait ataxia Hypogonadism Osteoporosis Babinski sign Areflexia Increased intraocular pressure Posterior embryotoxon Slow-growing hair Cranial hyperostosis Vertebral hyperostosis 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Optic nerve dysplasia Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Madelung deformity Cerebellar atrophy Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Pseudohypoparathyroidism Selective tooth agenesis Trichorrhexis nodosa Short middle phalanx of the 5th finger Dry hair Thin anteverted nares Headache Infantile spasms Migraine Scotoma Blurred vision Cerebral hemorrhage Hemiplegia Intracranial hemorrhage Dysphonia Leukoencephalopathy Amblyopia Hemiparesis Muscle cramps Depressivity Renal cyst Hypopigmentation of the skin Nephropathy Hematuria Tachycardia Astigmatism Corneal opacity Stroke Facial palsy Dementia Enlarged flash visual evoked potentials


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