Optic atrophy, and Lumbar hyperlordosis

Diseases related with Optic atrophy and Lumbar hyperlordosis

In the following list you will find some of the most common rare diseases related to Optic atrophy and Lumbar hyperlordosis that can help you solving undiagnosed cases.


Top matches:

High match HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6


Hereditary motor and sensory neuropathy type VI is an autosomal dominant neurologic disorder characterized by peripheral neuropathy and optic atrophy (summary by Voo et al., 2003). Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VISee also HMSN6B (OMIM ), caused by mutation in the SLC25A46 gene (OMIM ) on chromosome 5q22.For a general phenotypic description and a discussion of genetic heterogeneity of CMT, see CMT1B (OMIM ).

HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6 Is also known as peripheral neuropathy and optic atrophy|charcot-marie-tooth disease, type 6a|cmt6|hmsn via|cmt6a|charcot-marie-tooth disease, type 6|hmsn6|neuropathy, hereditary motor and sensory, type vi|charcot-marie-tooth disease type 6

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6

High match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY


Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

High match LAMB-SHAFFER SYNDROME; LAMSHF


Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LAMB-SHAFFER SYNDROME; LAMSHF

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Other less relevant matches:

High match CAMURATI-ENGELMANN DISEASE


Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

High match CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME


This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

High match X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE


Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

High match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

High match GM1-GANGLIOSIDOSIS, TYPE I


GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

High match SAETHRE-CHOTZEN SYNDROME


Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

SAETHRE-CHOTZEN SYNDROME Is also known as acs3|acrocephalosyndactyly type 3|scs|acrocephaly, skull asymmetry, and mild syndactyly|acs iii|acrocephalosyndactyly, type iii|chotzen syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SAETHRE-CHOTZEN SYNDROME

High match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Top 5 symptoms//phenotypes associated to Optic atrophy and Lumbar hyperlordosis

Symptoms // Phenotype % cases
Scoliosis Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Optic atrophy and Lumbar hyperlordosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormality of the skeletal system

Uncommon Symptoms - Between 30% and 50% cases


Frontal bossing

Common Symptoms - More than 50% cases


Hyperlordosis

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Epicanthus Pes planus Narrow palate Mandibular prognathia Microcephaly Generalized hypotonia Hypertelorism Sensorineural hearing impairment Hypoplasia of the maxilla Motor delay Severe global developmental delay Open mouth Macrotia Muscular hypotonia Single transverse palmar crease Myopia Feeding difficulties in infancy Gait disturbance Posteriorly rotated ears Pectus carinatum Skeletal muscle atrophy Muscle weakness Nystagmus Kyphosis Flexion contracture Intellectual disability, moderate Cataract Cryptorchidism Cardiomyopathy Coxa valga Malar flattening Ptosis Joint laxity Low-set ears Cerebral cortical atrophy Protruding ear Broad hallux Pectus excavatum Short metacarpal Behavioral abnormality Clinodactyly Long philtrum Kyphoscoliosis Neurological speech impairment Congestive heart failure Spasticity Wide mouth Telecanthus Abnormal form of the vertebral bodies Thoracic scoliosis Growth delay Macrocephaly Inguinal hernia Abnormal diaphysis morphology Micrognathia High palate Gastroesophageal reflux Hyperplasia of the maxilla Cognitive impairment Exotropia Anxiety Dental crowding Peripheral neuropathy Mitral regurgitation

Rare Symptoms - Less than 30% cases


Brachydactyly Microcornea Broad nasal tip Thoracic kyphoscoliosis Hypotelorism Dental malocclusion Peripheral axonal neuropathy Intellectual disability, progressive Abnormality of the antihelix Misalignment of teeth Furrowed tongue Failure to thrive Cleft palate Visual impairment Ventricular septal defect Short neck Everted lower lip vermilion Sleep apnea Sensory neuropathy Midface retrusion Abnormality of digit Gingival overgrowth Ventriculomegaly Tinnitus Intellectual disability, severe Microphthalmia Recurrent respiratory infections Short philtrum Severe short stature Brachycephaly Progressive visual loss Polyneuropathy Low-set, posteriorly rotated ears Postnatal growth retardation Syndactyly Hydrocephalus Cerebellar hypoplasia Dilatation Abnormality of dental morphology Delayed closure of the anterior fontanelle Blindness Clinodactyly of the 5th finger Prominent nasal bridge Finger syndactyly Joint hyperflexibility Joint hypermobility Anteriorly placed anus Thick eyebrow Thick vermilion border Radioulnar synostosis Highly arched eyebrow Tapered finger Convex nasal ridge Low anterior hairline Facial hypotonia Plagiocephaly Abnormality of cardiovascular system morphology Hyporeflexia Abnormal heart morphology Mental deterioration Abnormality of pelvic girdle bone morphology Proximal muscle weakness Reduced visual acuity Neonatal hypotonia Cleft lip Craniosynostosis Wide anterior fontanel Broad forehead Dilated cardiomyopathy Prominent nose Thick lower lip vermilion Visual loss Coarse facial features Broad thumb Abnormality of the skull Growth hormone deficiency Abnormality of retinal pigmentation Hypertrophic cardiomyopathy Constipation High forehead Retrognathia Delayed speech and language development Delayed eruption of teeth Thin upper lip vermilion Feeding difficulties Delayed puberty Facial asymmetry Paralysis Hepatosplenomegaly Attention deficit hyperactivity disorder Skeletal dysplasia Clumsiness Optic nerve hypoplasia Proptosis Disproportionate tall stature Hyperactivity Hypogonadism Splenomegaly Hepatomegaly Increased intracranial pressure Ataxia Aggressive behavior Genu valgum Stereotypy Vertebral fusion Self-injurious behavior Leukopenia Wide nasal bridge Developmental regression Corneal opacity Broad palm Laryngomalacia Camptodactyly of finger Joint stiffness Abnormality of neuronal migration Arthralgia Recurrent skin infections Emphysema Reduced number of teeth Weight loss Soft skin Dementia Short metatarsal Dystonia Loss of consciousness Tremor Hyperreflexia Slender toe Cutis marmorata Abnormality of the nasal alae Venous thrombosis Hypertrichosis Aplasia/Hypoplasia of the corpus callosum Schizophrenia Abnormality of the metaphysis Coarse hair Progressive microcephaly Preauricular skin tag Thick nasal septum Redundant skin Thickened calvaria Prominent supraorbital ridges Cat cry Sandal gap Aplasia/Hypoplasia of the cerebellum Depressed nasal ridge Large hands Cardiomegaly Abnormality of the skin Macroglossia Abdominal distention Neurodegeneration Abnormality of movement Atonic seizures Truncal obesity Hypoplastic philtrum Gingivitis Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Deep venous thrombosis Vocal cord paralysis Microglossia Posterior subcapsular cataract Iris atrophy Hiatus hernia Peripheral visual field loss Cubitus valgus Subcapsular cataract Weak cry Celiac disease Constriction of peripheral visual field Narrow nasal bridge Severe sensorineural hearing impairment Abnormality of the hip bone Thick hair Macrodontia Childhood-onset truncal obesity Spinal canal stenosis Cerebral hemorrhage Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Progressive spasticity Chorioretinal dysplasia Narrow philtrum Precocious puberty Narrow palm Bull's eye maculopathy Hemeralopia Intracranial hemorrhage Generalized hirsutism Cutis gyrata of scalp Failure to thrive in infancy Chorioretinal dystrophy Rheumatoid arthritis Laryngeal stenosis Congenital neutropenia Granulocytopenia Abnormality of epiphysis morphology Premature closure of fontanelles Abnormality of the urinary system Broad finger Abnormal aortic valve morphology Long nose Delayed cranial suture closure Hallux valgus Open bite Advanced eruption of teeth Hyperextensibility of the finger joints Rectal prolapse Premature loss of primary teeth Thick nasal alae Narrow iliac wings Proximal radio-ulnar synostosis Narrow nose Epiphora Prominent crus of helix Renotubular dysgenesis Partial duplication of the distal phalanx of the 3rd finger Abnormal tricuspid valve morphology Hyperconvex fingernails Cataplexy Partial duplication of the distal phalanx of the 2nd finger Triphalangeal thumb Absent first metatarsal Stooped posture External ear malformation Shallow orbits Cleft of chin Neoplasm of the breast Duplication of the distal phalanx of hand Deviated nasal septum Skull asymmetry Narrow internal auditory canal Mild hearing impairment Craniofacial asymmetry Adrenogenital syndrome Flat forehead Abnormal nasolacrimal system morphology Parietal foramina Congenital adrenal hyperplasia Craniofacial dysostosis Bilateral cleft lip Lacrimal duct stenosis Lambdoidal craniosynostosis Anterior plagiocephaly Oxycephaly Buphthalmos Abnormal hair pattern Myelopathy Bilateral cleft lip and palate Adrenal hyperplasia Blepharospasm Short columella Coronal craniosynostosis Trigonocephaly Anteverted nares Widely spaced teeth Beaking of vertebral bodies Angiokeratoma corporis diffusum Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Hypodontia Vacuolated lymphocytes Exaggerated startle response Psychomotor deterioration Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the retinal vasculature Dysostosis multiplex Generalized dystonia Thickened ribs Uterine prolapse Tetraplegia Hypoplastic fingernail Bifid sternum Psychosis Acrocyanosis Cerebellar vermis hypoplasia Abnormal heart valve morphology Bundle branch block Encephalitis Abnormality of the hair Cutis laxa Abnormality of the scrotum Cerebral degeneration Hypoplasia of the corpus callosum Delayed skeletal maturation Breast carcinoma Pseudoepiphyses of the metacarpals Abnormality of the genitourinary system Hypertonia Intellectual disability, mild Craniofacial hyperostosis Cutaneous syndactyly Elbow flexion contracture Bilateral single transverse palmar creases Amblyopia Abnormal mitral valve morphology Retinoschisis Decreased beta-galactosidase activity Lumbar kyphosis Short distal phalanx of finger Wide nose Migraine Flat face Toe syndactyly Microtia Conductive hearing impairment Hypertension Neoplasm Restrictive cardiomyopathy Abnormality of ganglioside metabolism Decreased body weight Split hand Long eyelashes Reduced subcutaneous adipose tissue Abnormality of tibia morphology Slender build Facial paralysis Abnormality of the ulna Raynaud phenomenon Gangrene Poor appetite Aplasia/Hypoplasia of the radius Abnormality of the vertebral column Metaphyseal dysplasia Elevated erythrocyte sedimentation rate Hyperostosis Extramedullary hematopoiesis Cachexia Easy fatigability Vasculitis Bone marrow hypocellularity Increased bone mineral density Bone pain Diplopia Anorexia Waddling gait Limitation of joint mobility Vertigo Abnormality of femur morphology Otosclerosis Muscular dystrophy Cortical thickening of long bone diaphyses Polymicrogyria Talipes Congenital cataract Abnormal pyramidal sign Muscular hypotonia of the trunk Micropenis Encephalopathy Cerebral atrophy Talipes equinovarus Elevated aldolase level Abnormal subcutaneous fat tissue distribution Cortical sclerosis Abnormality of the humerus Craniofacial osteosclerosis Optic nerve compression Diaphyseal dysplasia Diaphyseal sclerosis Cranial nerve compression Abnormality of the radius Limb pain Cranial hyperostosis Sclerosis of skull base Lower limb pain Urinary retention Carious teeth Facial palsy Low posterior hairline Decreased motor nerve conduction velocity Slow decrease in visual acuity Axonal degeneration/regeneration Vocal cord paresis Leber optic atrophy Dysmetric saccades Positive Romberg sign Motor polyneuropathy Abnormality of visual evoked potentials Central scotoma Scotoma Abnormality of color vision Steppage gait Mild neurosensory hearing impairment Anosmia Sensorimotor neuropathy Spastic gait Optic disc pallor Sensory impairment Distal sensory impairment Distal amyotrophy Limb muscle weakness Distal muscle weakness Pes cavus Areflexia Distal sensory impairment of all modalities Abnormality of the genital system Abnormality of the nervous system Expressive language delay Difficulty walking Glaucoma Headache Fatigue Anemia Pain Severe expressive language delay Laryngotracheomalacia Hypoplastic helices Mild myopia Ureteral stenosis Vertebral clefting 2-3 toe syndactyly Long hallux Small face Maternal diabetes Long fingers Overlapping toe Pointed chin Renal agenesis Bulbous nose Exaggerated median tongue furrow Abnormality of brain morphology Butterfly vertebrae Short palm Postnatal microcephaly Tall stature Prominent fingertip pads Obesity Hernia Thrombocytopenia Recurrent infections Edema Respiratory distress Intrauterine growth retardation Facial wrinkling Auricular pit Postnatal macrocephaly Microtia, first degree Frontal upsweep of hair Diabetes mellitus Abnormality of the nasopharynx Sagittal craniosynostosis Gastrointestinal dysmotility Megalencephaly Skin tags Anal stenosis Partial agenesis of the corpus callosum Abnormality of the sternum High pitched voice Multiple joint contractures Bowing of the legs Rod-cone dystrophy Hypothyroidism Impulsivity Retinal dystrophy High myopia Decreased fetal movement Mitral valve prolapse Narrow forehead Pigmentary retinopathy Otitis media Aciduria Neutropenia Retinal detachment Small hand High, narrow palate Iris coloboma Arthritis Abnormality of skin pigmentation Retinal degeneration Arachnodactyly Astigmatism Smooth philtrum Synophrys Small for gestational age Stroke Nyctalopia Retinopathy Respiratory tract infection Radial deviation of finger Chorioretinal coloboma Short phalanx of finger Prematurely aged appearance Absent speech Slender ulna Prominent nipples Prominent antitragus Broad fingertip Osteopathia striata Abnormality of the distal phalanx of finger Talipes valgus Abnormal toenail morphology Tracheomalacia Ulnar deviation of finger Spastic diplegia Patent ductus arteriosus Metatarsus adductus Bilateral cryptorchidism Epiphyseal dysplasia Abnormality of the hand Abnormal dermatoglyphics Knee flexion contracture Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Cardiac arrest Clonus Short toe Hypospadias Agenesis of corpus callosum Congenital contracture Intestinal malrotation Pyloric stenosis Relative macrocephaly Sacral dimple Joint contracture of the hand Gynecomastia Aganglionic megacolon Pachygyria Heterotopia Choanal atresia Fine hair Webbed neck Triangular face Prominent forehead Downturned corners of mouth Thin vermilion border Cleft upper lip Unsteady gait Anal atresia Dolichocephaly Sparse hair Camptodactyly Rigidity Umbilical hernia Respiratory failure Drumstick terminal phalanges



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