Scoliosis, and Astigmatism

Diseases related with Scoliosis and Astigmatism

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


Top matches:

Low match ISOLATED ECTOPIA LENTIS


Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.

ISOLATED ECTOPIA LENTIS Is also known as ectopia lentis syndrome|familial ectopia lentis

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Cataract
  • Cognitive impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ECTOPIA LENTIS

Low match RAHMAN SYNDROME; RMNS


Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about RAHMAN SYNDROME; RMNS

Low match SOTOS SYNDROME 2; SOTOS2


SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 2; SOTOS2

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Other less relevant matches:

Low match HOLOPROSENCEPHALY 2; HPE2


A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

Low match 5P13 MICRODUPLICATION SYNDROME


5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Low match INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY


Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY

Low match GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME


Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME

Low match AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA


Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.

AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as axial smd|smd, axial

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA

Low match SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME


Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

Low match MUCOLIPIDOSIS TYPE III ALPHA/BETA


Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

MUCOLIPIDOSIS TYPE III ALPHA/BETA Is also known as ml iii|mucolipidosis type 3 alpha/beta|pseudo-hurler polydystrophy|mucolipidosis iiia|ml iii alpha/beta|ml iiia|ml 3 alpha/beta|mucolipidosis iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III ALPHA/BETA

Top 5 symptoms//phenotypes associated to Scoliosis and Astigmatism

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

Patients with Scoliosis and Astigmatism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Abnormal facial shape Seizures Visual impairment Joint stiffness Low-set ears Anteverted nares Hypertelorism Micrognathia Delayed speech and language development Growth delay Mandibular prognathia Microcephaly Myopia Short stature

Rare Symptoms - Less than 30% cases


Spondylometaphyseal dysplasia Exotropia Upslanted palpebral fissure Frontal bossing Wide nasal bridge Rhizomelia Bowing of the long bones Platyspondyly Hypotelorism Postnatal growth retardation Coloboma Agenesis of corpus callosum Microphthalmia Short nose Limb undergrowth Muscular hypotonia Short ribs Brachycephaly Narrow greater sacrosciatic notches Low anterior hairline Progressive visual loss Retinal dystrophy Retinal degeneration Visual loss Photophobia Optic atrophy Ovoid vertebral bodies Hyperlordosis Proptosis Kyphosis Abnormality of the skeletal system Metaphyseal irregularity Coxa vara Obsessive-compulsive behavior Short philtrum Craniosynostosis Cupped ribs Nyctalopia Nevus Reduced visual acuity Ectopia pupillae Hypermetropia Overgrowth Amblyopia Accelerated skeletal maturation Arachnodactyly Downslanted palpebral fissures Malar flattening Telecanthus Long fingers Cataract Aplasia/hypoplasia of the extremities Enchondroma Constrictive median neuropathy Carpal bone hypoplasia Proximal femoral metaphyseal irregularity Juvenile rheumatoid arthritis Retinopathy Severe short stature Irregular iliac crest Failure to thrive Brachydactyly Prominent sternum Abnormality of the optic nerve Short palm Dental malocclusion Short metacarpal Waddling gait Broad ribs Mucopolysacchariduria J-shaped sella turcica Anterior rib cupping Neonatal respiratory distress Deficiency of N-acetylglucosamine-1-phosphotransferase Subperiosteal bone resorption Increased serum beta-hexosaminidase Pigmentary retinopathy Abnormality of the metaphysis Increased serum iduronate sulfatase activity Irregular carpal bones Hyperopic astigmatism Recurrent pneumonia Epiphyseal dysplasia Vascular tortuosity Shallow acetabular fossae Mild short stature Short femoral neck Thoracic hypoplasia Metaphyseal dysplasia Bronchitis Bell-shaped thorax Thoracic kyphosis Abnormality of the ribs Thoracic dysplasia Retinal vascular tortuosity Dysostosis multiplex Metaphyseal widening Recurrent otitis media Split hand Thickened skin Decreased hip abduction Retinal thinning Severe platyspondyly Large central visual field defect Tibial torsion Hypoplastic inferior ilia Pain Flexion contracture Hernia Prominent forehead Cone dysfunction syndrome Osteoporosis Cardiomegaly Osteopenia Specific learning disability Arthralgia Coarse facial features Umbilical hernia Hip dysplasia Wide nose Corneal opacity Arthritis Limited elbow movement Metaphyseal cupping Scleroderma Disproportionate short stature Cone/cone-rod dystrophy Respiratory tract infection Bowing of the legs Flared metaphysis Visual field defect Abnormality of color vision Femoral bowing Tibial bowing Short finger High hypermetropia Macular atrophy Enlarged joints Thoracic scoliosis Iris hypopigmentation Peripheral visual field loss Rheumatoid arthritis Short long bone Aortic regurgitation Retinal atrophy Beaking of vertebral bodies Opacification of the corneal stroma Bone pain Optic nerve coloboma Abnormality of macular pigmentation Hyporeflexia Delayed puberty Holoprosencephaly Coxa valga Cutis marmorata Advanced eruption of teeth Cleft palate Ptosis Midface retrusion Constipation Cerebellar hypoplasia Cleft lip Microcornea Bifid uvula Diabetes insipidus Everted lower lip vermilion Narrow nasal bridge Submucous cleft hard palate Adrenal hypoplasia Chronic constipation Median cleft lip and palate Single median maxillary incisor Cyclopia Single ventricle Proboscis Hypoplastic philtrum Absent nasal septal cartilage Narrow face Long face Anterior pituitary agenesis Talipes equinovarus Cognitive impairment Hypertension Abnormal heart morphology Joint hypermobility Ectopia lentis Uveitis Abnormal pupil morphology Homocystinuria Iris atrophy Posterior synechiae of the anterior chamber Myopic astigmatism Hypertonia Anxiety Abnormality of the dentition Kyphoscoliosis Neonatal hypotonia Camptodactyly Talipes Full cheeks Curved fingers Motor delay Ventriculomegaly Pectus excavatum Narrow mouth High forehead Aplasia of the nose High palate Skeletal dysplasia Progressive microcephaly Cerebellar atrophy Dystonia Cerebral atrophy Retrognathia Deeply set eye Muscular hypotonia of the trunk Anal atresia Esotropia Postnatal microcephaly Gingival overgrowth Cerebral visual impairment Intellectual disability, progressive Impaired mastication Abnormal electroretinogram Limb hypertonia Abnormality of visual evoked potentials Corpus callosum atrophy Short upper lip Prominent fingertip pads Laryngotracheomalacia Respiratory distress Blindness Delayed skeletal maturation Pneumonia Rod-cone dystrophy Hypoplasia of the corpus callosum Slender finger Epicanthus Overweight Sparse hair Blepharophimosis Broad forehead Small for gestational age Bulbous nose Sleep disturbance Narrow forehead Low posterior hairline Short palpebral fissure Stereotypy Large hands Turricephaly Drooling Long foot Cryptorchidism Depressed nasal bridge Long philtrum Hypospadias Autism Thin upper lip vermilion Synophrys Poor speech Smooth philtrum Downturned corners of mouth Dental crowding Soft tissue swelling of interphalangeal joints



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