Myopia, and Osteopenia

Diseases related with Myopia and Osteopenia

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


Top matches:

High match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

High match BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME


Autosomal recessive brachyolmia-amelogenesis imperfecta syndrome is an exceedingly rare form of brachyolmia (see this term), characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition.

BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME Is also known as vbs|platyspondyly with amelogenesis imperfecta|sthag6, formerly|tooth agenesis, selective, 6, formerly|platyspondyly-amelogenesis imperfecta syndrome|verloes-bourguignon syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Myopia
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYOLMIA-AMELOGENESIS IMPERFECTA SYNDROME

High match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

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Other less relevant matches:

High match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY


Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

High match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

High match CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME


Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

High match SPONDYLO-OCULAR SYNDROME


Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

High match PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY


Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

High match CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY


Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.

CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY Is also known as bone fragility-contractures-arterial rupture-deafness syndrome|lh3 deficiency|connective tissue disorder due to lh3 deficiency|lysyl hydroxylase 3 deficiency

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONNECTIVE TISSUE DISORDER DUE TO LYSYL HYDROXYLASE-3 DEFICIENCY

High match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


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

Top 5 symptoms//phenotypes associated to Myopia and Osteopenia

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Low-set ears Platyspondyly Short stature Abnormal facial shape Nystagmus Global developmental delay Growth delay Muscle weakness Long philtrum Pes planus Failure to thrive Inguinal hernia Talipes equinovarus Gait disturbance Bilateral sensorineural hearing impairment Seizures Motor delay Muscular hypotonia Low posterior hairline Cataract Wide nasal bridge Anteverted nares Osteoporosis Spasticity

Rare Symptoms - Less than 30% cases


Bruising susceptibility Retinal detachment Flat face Pectus carinatum Unsteady gait Easy fatigability Severe short stature Strabismus Optic atrophy Hernia Kyphosis Respiratory distress Hypodontia Scarring Cardiomyopathy Myopathy Cerebellar hypoplasia Epicanthus Long toe Hyperreflexia Respiratory insufficiency Visual impairment Abnormal electroretinogram Webbed neck Micrognathia Intrauterine growth retardation Abnormality of metabolism/homeostasis Clinodactyly Postnatal growth retardation Decreased body weight Hyperextensible skin Hyperlordosis Increased susceptibility to fractures EEG abnormality Arterial rupture Atrial septal defect Delayed eruption of teeth Dilatation Congenital cataract Mitral valve prolapse Hypoplasia of dental enamel Dysphagia Hemiplegia Generalized-onset seizure Hip dysplasia Prominent forehead Delayed skeletal maturation Brachycephaly Developmental regression Intellectual disability, severe Hypertonia Dystonia Babinski sign Hypoplasia of the corpus callosum Short 2nd finger Myoclonus Blindness Depressivity Moderate global developmental delay Microphthalmia Polydactyly Sparse lateral eyebrow Short neck Respiratory failure Elevated hepatic transaminase Neonatal hypotonia Irritability Retinopathy Neurological speech impairment Visual loss Posteriorly rotated ears Frontal bossing Facial hypotonia Hypochromic anemia Thoracic kyphosis Posterior subcapsular cataract Abnormal eyebrow morphology Abnormality of the antihelix Subcapsular cataract Long fingers Preauricular pit Accelerated skeletal maturation Amblyopia Lumbar hyperlordosis Thin vermilion border Vertebral compression fractures Hepatomegaly Joint hyperflexibility Disproportionate short-trunk short stature Thickened helices Shield chest Unilateral cryptorchidism Abnormality of the intervertebral disk Aplasia/Hypoplasia of the lens Dysplastic aortic valve Left hemiplegia Abnormal cardiac septum morphology Depressed nasal bridge Iris hypopigmentation Ventricular septal defect CNS demyelination Severe global developmental delay Increased serum lactate Corneal dystrophy Exercise intolerance Cardiac arrest Hemiparesis Pulmonary arterial hypertension Esotropia Aciduria Generalized muscle weakness Ragged-red muscle fibers Lactic acidosis Stroke Feeding difficulties in infancy Mental deterioration Hypertrophic cardiomyopathy Acidosis Dyspnea Tachypnea Eosinophilia Thrombocytopenia 3-Methylglutaconic aciduria Abnormal muscle fiber protein expression Exercise-induced lactic acidemia Infantile axial hypotonia Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination Skeletal myopathy Recurrent upper respiratory tract infections Organic aciduria Right ventricular hypertrophy Cardiorespiratory arrest Meningocele Mitochondrial myopathy Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Premature ovarian insufficiency Glaucoma Headache Abnormality of the cerebral white matter Hand polydactyly No social interaction Abnormality of nervous system morphology Tapetoretinal degeneration Hypoparathyroidism Decreased light- and dark-adapted electroretinogram amplitude Abnormality of visual evoked potentials Inverted nipples Intellectual disability, progressive Pain Leukodystrophy Spastic tetraplegia Pigmentary retinopathy Peripheral demyelination Brain atrophy Tetraplegia Retinal degeneration Diffuse hepatic steatosis Short nose Congestive heart failure Porencephalic cyst Fatigue Hypertension Decreased palmar creases J-shaped sella turcica Thenar muscle atrophy Diaphragmatic eventration Hypoplasia of the capital femoral epiphysis Shallow orbits Malar flattening Dilatation of the cerebral artery Pathologic fracture Coarse hair Elbow flexion contracture Nail dysplasia Downturned corners of mouth Talipes Abnormality of the pinna Down-sloping shoulders Poor suck Microcytic anemia Short long bone Narrow vertebral interpedicular distance Intervertebral space narrowing Herniation of intervertebral nuclei Cleft palate Brachydactyly Genu valgum Micromelia Limb undergrowth Osteoarthritis Abnormality of the metaphysis Abnormality of epiphysis morphology Increased bone mineral density Coxa vara Hemangioma Genu varum Thoracic aortic aneurysm Hypoplasia of the odontoid process Delayed pubic bone ossification Narrow greater sacrosciatic notches Hypoplastic pubic bone Anterior rib cupping Spondyloepimetaphyseal dysplasia Delayed epiphyseal ossification Protuberant abdomen Abnormality of the urinary system Disproportionate short stature Abnormality of the sternum Short thorax Short femoral neck Spondyloepiphyseal dysplasia Metaphyseal irregularity Abdominal aortic aneurysm Selective tooth agenesis Club-shaped proximal femur Poor speech Status epilepticus Apraxia Narrow forehead Abnormal cerebellum morphology Inability to walk Dysmetria Gait ataxia Infantile muscular hypotonia Cerebellar atrophy Tremor Dysarthria Delayed speech and language development Cognitive impairment Ataxia Cerebral visual impairment Brisk reflexes Large forehead Hypertrichosis Amelogenesis imperfecta Agenesis of permanent teeth Aortic aneurysm Reduced number of teeth Oligodontia Widely spaced teeth Microdontia Abnormality of the dentition Hypoplasia of the maxilla Short palm Thick eyebrow Arachnodactyly Skeletal dysplasia Mandibular prognathia C1-C2 subluxation Metaphyseal dappling Preauricular skin tag Bladder diverticulum Waddling gait Sloping forehead Hypotelorism Blue sclerae Severe muscular hypotonia Cutis laxa Poor head control Congenital muscular dystrophy Disproportionate tall stature Difficulty climbing stairs Atrophic scars Soft skin Follicular hyperkeratosis Cleft soft palate Keloids Joint hypermobility Wide mouth Mitral regurgitation High myopia Dental malocclusion Tapered finger Smooth philtrum Craniosynostosis Upslanted palpebral fissure High-frequency sensorineural hearing impairment Pectus excavatum Syndactyly High palate Cryptorchidism Aortic rupture Abnormal eye morphology Microcornea Abnormality of the foot Microcephaly Attention deficit hyperactivity disorder Radial deviation of finger Low anterior hairline Cafe-au-lait spot Insulin resistance Single transverse palmar crease Small for gestational age Hypoglycemia Truncal obesity Hyperactivity Hypogonadism Clinodactyly of the 5th finger Intellectual disability, mild Behavioral abnormality Ptosis Congenital sensorineural hearing impairment Severe intrauterine growth retardation Muscular dystrophy Flexion contracture Umbilical hernia Kyphoscoliosis Hyperkeratosis Elevated serum creatine phosphokinase Patent ductus arteriosus Skeletal muscle atrophy Congenital bilateral ptosis Abnormality of the mouth Small placenta Prelingual sensorineural hearing impairment Neonatal hyperbilirubinemia Concave nasal ridge Short attention span Severe postnatal growth retardation Depletion of mitochondrial DNA in muscle tissue



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