Myopia, and Spina bifida

Diseases related with Myopia and Spina bifida

In the following list you will find some of the most common rare diseases related to Myopia and Spina bifida that can help you solving undiagnosed cases.

Top matches:

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

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Other less relevant matches:

This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.

SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME Is also known as star syndrome|syndactyly with renal and anogenital malformations

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd|joubert syndrome with jatd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Top 5 symptoms//phenotypes associated to Myopia and Spina bifida

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Meningocele Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Glaucoma Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Myopia and Spina bifida. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cataract Depressed nasal bridge Intellectual disability Global developmental delay Muscular hypotonia Myopathy Congenital cataract Bulbous nose Muscle weakness Congestive heart failure Dilatation Encephalocele Retinal detachment Ventriculomegaly Abnormality of the skeletal system Micrognathia Epicanthus Kyphosis Scoliosis Hypertelorism Low-set ears Wide nasal bridge Hernia Hyperlordosis Abnormal facial shape Aortic regurgitation Joint hypermobility Flexion contracture Visual loss Joint laxity Overgrowth Motor delay Occipital encephalocele Hearing impairment Short stature Esotropia Corneal dystrophy Aortic root aneurysm Respiratory insufficiency Spina bifida occulta High myopia Nystagmus Midface retrusion Cerebellar hypoplasia Malar flattening Visual impairment Generalized muscle weakness

Rare Symptoms - Less than 30% cases

Mitral valve prolapse Cardiomyopathy Narrow face Large for gestational age Stroke Feeding difficulties in infancy Mental deterioration Ectopia lentis Osteopenia Dyspnea Absent septum pellucidum Respiratory distress Lens luxation Gastroesophageal reflux Arachnodactyly Sensorineural hearing impairment Hypertension Agenesis of corpus callosum Failure to thrive Polyneuropathy Vitreoretinopathy Tall stature Intellectual disability, profound Thin skin Aortic aneurysm Tachypnea Apnea Vesicoureteral reflux Single transverse palmar crease Retinal dystrophy Microcephaly High palate Talipes Downslanted palpebral fissures Dural ectasia Renal insufficiency Ventricular septal defect Gait disturbance Neonatal hypotonia Aortic dissection Duane anomaly Hypoplasia of the corpus callosum Slender finger Hydrocephalus Blindness Intellectual disability, severe Patent ductus arteriosus Retrognathia Disproportionate tall stature Heart murmur Joint hyperflexibility Calvarial skull defect Dental crowding Dolichocephaly Retinal degeneration Wide mouth Telecanthus Pectus excavatum Alopecia Talipes equinovarus Macrocephaly Cryptorchidism Edema Broad nasal tip Polymicrogyria Recurrent pneumonia Colpocephaly Megalocornea Cortical dysplasia Hypoplasia of the brainstem Premature osteoarthritis Pachygyria Craniosynostosis Pes planus Cerebellar vermis hypoplasia Depressed nasal ridge Pectus carinatum Brachydactyly Kyphoscoliosis Proximal femoral metaphyseal irregularity Oculomotor apraxia Subcutaneous hemorrhage Increased intracranial pressure Bell-shaped thorax Abnormality of the acetabulum Bladder diverticulum Unsteady gait Thoracic kyphoscoliosis Generalized joint laxity Dysgenesis of the cerebellar vermis Cervical spinal canal stenosis Atypical scarring of skin Soft skin Thoracic hypoplasia Elongated superior cerebellar peduncle Short digit Keloids Hyperechogenic kidneys Arterial rupture Decreased pulmonary function Abnormality of the basal ganglia Retinopathy Abnormal corpus callosum morphology Moderate myopia Long clavicles Bruising susceptibility Recurrent aspiration pneumonia Wrist drop Abnormality of the optic disc Premature rupture of membranes Palmoplantar cutis laxa Renal cortical cysts Arterial dissection Keratoconus Abnormality of the hip bone Dilated third ventricle Chronic lung disease Abnormality of metabolism/homeostasis Redundant neck skin Dilation of lateral ventricles Supernumerary nipple Hyperbilirubinemia Increased body weight Oligohydramnios Joint dislocation Inguinal hernia Enlarged cisterna magna Decreased fetal movement Blue sclerae Osteoporosis Prominent forehead Joint contracture of the hand Gastrointestinal hemorrhage Torticollis Rhizomelic arm shortening Cone-shaped epiphysis Insulin resistance Atrophic scars Small cervical vertebral bodies Subretinal deposits Open operculum Rhizomelic leg shortening Early ossification of capital femoral epiphyses Twelfth rib hypoplasia Sepsis Molar tooth sign on MRI Aplasia/Hypoplasia involving bones of the thorax Microcornea Intracranial hemorrhage Abnormal bleeding Hyperextensible skin Overfolded helix Abnormality of the 5th metacarpal Thick lower lip vermilion Molluscoid pseudotumors Redundant skin Dilatation of the cerebral artery Striae distensae Abnormality of the sternum Reduced subcutaneous adipose tissue Restrictive ventilatory defect Decreased muscle mass Open bite Emphysema Rocker bottom foot Epiphora Hammertoe Congenital contracture Back pain Hypoplasia of the iris Sleep apnea Narrow palate Spontaneous abortion Elbow flexion contracture Exotropia Amblyopia Decreased body weight Abnormal lung morphology Mitral regurgitation Cardiomegaly Abnormality of the cardiovascular system Dental malocclusion Chest pain Subarachnoid hemorrhage Arachnoid cyst Long face Hypopnea Medial rotation of the medial malleolus Mitral annular calcification Pulmonary artery dilatation Incisional hernia Increased axial length of the globe Anisometropia Overjet Spontaneous pneumothorax Cystic medial necrosis Microspherophakia Hypertropia Flat cornea Protrusio acetabuli Obstructive sleep apnea Tricuspid valve prolapse Endocarditis Thoracic aortic aneurysm Overbite Ascending tubular aorta aneurysm Hypoplasia of the musculature Pneumothorax Homocystinuria Low back pain Pulmonary edema Spondylolisthesis Genu recurvatum Thoracic kyphosis High, narrow palate Peripheral axonal neuropathy Spontaneous rupture of the globe Thick eyebrow Gingival overgrowth Thickened skin Nephrolithiasis Hypertrichosis Renal dysplasia Small nail Bilateral sensorineural hearing impairment Macroglossia Delayed eruption of teeth Thick vermilion border Hirsutism Short distal phalanx of finger Synophrys Hemivertebrae Broad forehead Protruding ear Hepatosplenomegaly Umbilical hernia Coarse facial features Macrotia Polyhydramnios Mandibular prognathia Polydactyly Posteriorly rotated ears Splenomegaly Hepatomegaly Progressive congenital scoliosis Generalized hirsutism Intellectual disability, progressive Camptodactyly Generalized hypertrichosis Deeply set eye Pes cavus Arrhythmia Clinodactyly Abnormality of cardiovascular system morphology Peripheral neuropathy Pain Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Biliary atresia Accelerated skeletal maturation Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Long penis Thin bony cortex Dystrophic fingernails Broad ribs Protruding tongue Pericardial effusion Anonychia Metaphyseal widening Growth abnormality Hemangioma Short ribs Proptosis Dandy-Walker malformation Median cleft palate Headache Fatigue Growth delay Abnormality of the glabella Midline central nervous system lipomas Hypoplasia of the olfactory bulb Aplasia/Hypoplasia of the tibia Dermoid cyst Choroid plexus cyst Decreased lacrimation Retrocerebellar cyst Large sella turcica Acidosis Parietal foramina Anterior pituitary hypoplasia Thick nasal alae Patellar hypoplasia Broad columella Bifid nose Alopecia totalis Bifid nasal tip Preaxial foot polydactyly Upper airway obstruction Abnormal toenail morphology Thrombocytopenia Hypertrophic cardiomyopathy Median cleft lip Abnormality of mitochondrial metabolism Infantile axial hypotonia Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination 3-Methylglutaconic aciduria Skeletal myopathy Organic aciduria Right ventricular hypertrophy Cardiorespiratory arrest Mitochondrial myopathy Premature ovarian insufficiency Lactic acidosis Abnormal electroretinogram Recurrent upper respiratory tract infections Easy fatigability Eosinophilia Ragged-red muscle fibers Exercise intolerance Cardiac arrest Hemiparesis Pulmonary arterial hypertension Aciduria Increased serum lactate Coronal craniosynostosis Hypopituitarism Abnormal muscle fiber protein expression Severe global developmental delay Optic nerve hypoplasia Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Lissencephaly Holoprosencephaly Severe muscular hypotonia Opacification of the corneal stroma EMG abnormality Everted lower lip vermilion Abnormality of movement Abnormality of the cerebral white matter Muscular dystrophy Congenital muscular dystrophy Neurological speech impairment Coloboma Pallor EEG abnormality Myoclonus Elevated serum creatine phosphokinase Microphthalmia Hypertonia Optic atrophy Cognitive impairment Spasticity Abnormality of the voice Aplasia/Hypoplasia of the cerebellum Sparse eyelashes Short nasal bridge Sparse and thin eyebrow Hypohidrosis Large fontanelles Short palpebral fissure Sparse hair Hyperkeratosis Brachycephaly Upslanted palpebral fissure Hyperhidrosis Ptosis Enlarged flash visual evoked potentials Hypoplasia of the retina Hemiplegia/hemiparesis Uncontrolled eye movements Hypoglycosylation of alpha-dystroglycan Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Decreased light- and dark-adapted electroretinogram amplitude Buphthalmos Undetectable electroretinogram Hypoplasia of the pons Retinal dysplasia Retinal atrophy Congenital glaucoma Exercise-induced lactic acidemia Depletion of mitochondrial DNA in muscle tissue Wide intermamillary distance Micromelia Rhizomelia Short phalanx of finger Abnormal form of the vertebral bodies Abnormality of the metaphysis Osteoarthritis Lumbar hyperlordosis Limb undergrowth Abnormality of the skin Otitis media Short metacarpal Short palm Platyspondyly Prominent supraorbital ridges Joint stiffness Muscular hypotonia of the trunk Conductive hearing impairment Arthralgia Delayed skeletal maturation Long philtrum Short nose Anteverted nares Cleft palate Cephalocele Bifid ureter Short long bone Epiphyseal dysplasia Peripapillary atrophy Abnormal lacrimal duct morphology Abnormal cerebellum morphology Postaxial polydactyly Low-set, posteriorly rotated ears Elevated hepatic transaminase Recurrent respiratory infections Hypospadias Absent speech Frontal bossing Feeding difficulties Aplasia/Hypoplasia of the capital femoral epiphysis Large tarsal bones Prominent interphalangeal joints Flared metaphysis Enlarged epiphyses Coronal cleft vertebrae Short 5th metacarpal Enlarged joints Beaking of vertebral bodies Pierre-Robin sequence Glossoptosis Synostosis of carpal bones Disproportionate short stature Abnormal joint morphology Mixed hearing impairment Occipital meningocele Exudative retinal detachment Intrauterine growth retardation Bicuspid aortic valve Bicornuate uterus Rectovaginal fistula Eyelid coloboma Pulmonary artery stenosis Narrow nose Syringomyelia Anal stenosis Macular dystrophy Ectopic kidney Clitoral hypertrophy Hypoplasia of the radius Horseshoe kidney Peripheral pulmonary artery stenosis Renal agenesis Wide nose Anal atresia Toe syndactyly Small for gestational age Abnormal cardiac septum morphology Abnormality of the pinna Hydronephrosis Thin upper lip vermilion Clinodactyly of the 5th finger Syndactyly Labial hypoplasia Lop ear Cerebellar malformation Chorioretinal atrophy Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Band keratopathy Macular hypoplasia Total anomalous pulmonary venous return Aplasia cutis congenita of scalp Anomalous pulmonary venous return Large forehead Acute lymphoblastic leukemia Aplasia cutis congenita Dextrocardia Pelvic kidney Pyloric stenosis Macular degeneration Horizontal nystagmus Abnormality of the hair Progressive visual loss Leukemia Nyctalopia Cerebral atrophy Cerebellar atrophy Ataxia Mitral atresia 4-5 toe syndactyly Inferior oblique muscle overaction


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