Optic atrophy, and Limitation of joint mobility

Diseases related with Optic atrophy and Limitation of joint mobility

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


Top matches:

Medium match ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by Shah et al., 2014).For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (OMIM ).

ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME Is also known as wmsl|weill-marchesani-like syndrome|15q26.3 microdeletion syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Myopia
  • Optic atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME

Low match ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME


Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME Is also known as distal arthrogryposis with ophthalmoplegia|distal arthrogryposis type 5|oculomelic amyoplasia|distal arthrogryposis type iib

Related symptoms:

  • Ptosis
  • Visual impairment
  • Optic atrophy
  • Pectus excavatum
  • Inguinal hernia


SOURCES: ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME

Low match AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT


Autosomal dominant optic atrophy and cataract (ADOAC) is a form of autosomal dominant optic atrophy (ADOA; see this term) characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. ADOAC is caused by mutations in the OPA3 gene (19q13.32).

AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT Is also known as optic atrophy and cataract, autosomal dominant|opa3, autosomal dominant|autosomal dominant optic atrophy type 3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT

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Other less relevant matches:

Low match PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME


Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.

PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME Is also known as pancreatic and cerebellar agenesis|diabetes mellitus, permanent neonatal, with cerebellar agenesis

Related symptoms:

  • Seizures
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME

Low match SPASTIC PARAPLEGIA TYPE 2


Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.

SPASTIC PARAPLEGIA TYPE 2 Is also known as spg2|spastic paraparesis type 2|spastic gait type 2|x-linked spastic paraplegia type 2|sppx2

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA TYPE 2

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 3


Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

Low match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Low match AMISH LETHAL MICROCEPHALY


Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

Low match JUVENILE PAGET DISEASE


Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.

JUVENILE PAGET DISEASE Is also known as familial osteoectasia|hyperphosphatasia, familial idiopathic|juvenile paget disease|hyperostosis corticalis deformans juvenilis|hereditary hyperphosphatasia|osteoectasia, familial|hyperphosphatasemia, chronic congenital idiopathic|juvenile paget's disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about JUVENILE PAGET DISEASE

Low match WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Top 5 symptoms//phenotypes associated to Optic atrophy and Limitation of joint mobility

Symptoms // Phenotype % cases
Joint stiffness Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Optic atrophy and Limitation of joint mobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Flexion contracture Cerebellar hypoplasia Global developmental delay Spasticity Hyperreflexia Talipes equinovarus Low-set ears Failure to thrive Generalized hypotonia Cataract Cerebellar atrophy Tremor Nystagmus Short stature Pectus carinatum

Rare Symptoms - Less than 30% cases


Glaucoma Muscle weakness Talipes Abnormality of extrapyramidal motor function Dysmetria Osteoporosis Encephalopathy Brachycephaly Diabetes mellitus Depressed nasal bridge Muscular hypotonia of the trunk Pes cavus Abnormal autonomic nervous system physiology Sensorineural hearing impairment Scoliosis Pain Hearing impairment Agenesis of corpus callosum Macrotia Progressive microcephaly Myopia Dysarthria Bilateral talipes equinovarus Kyphosis Triangular face Abnormal facial shape Ophthalmoplegia Abnormality of the dentition Hypoplasia of the corpus callosum Developmental regression Metabolic acidosis Generalized tonic-clonic seizures Severe global developmental delay Irritability Osteopenia Lactic acidosis Cerebellar vermis hypoplasia Aciduria Sloping forehead Decreased fetal movement Spina bifida Lissencephaly Partial agenesis of the corpus callosum Limb hypertonia Hypoplasia of the fovea Enlarged cisterna magna Decreased skull ossification Central apnea Acidosis Sparse eyelashes Myoclonus Generalized-onset seizure Dystonia Short nose Absent speech Hyporeflexia Gait ataxia Kyphoscoliosis Protruding ear Distal muscle weakness Joint hypermobility Inability to walk Dandy-Walker malformation Narrow forehead Hypertonia Gastric ulcer Fine hair Choreoathetosis Broad-based gait Brittle hair Sparse eyebrow Hand clenching Micrognathia Muscular hypotonia Feeding difficulties Hepatomegaly Ventriculomegaly Male hypogonadism Congenital microcephaly Dysuria Hydroxyprolinuria Severe sensorineural hearing impairment Premature loss of teeth Ankylosis Abnormality of the clavicle Barrel-shaped chest Hyperphosphatemia Vertebral compression fractures Lower limb pain Cranial hyperostosis Rough bone trabeculation Limb pain Angioid streaks of the fundus Macular scar Elevated serum acid phosphatase Hydroxyprolinemia Thickened calvaria Anemia Peripheral neuropathy Nephropathy Respiratory insufficiency Delayed puberty Malabsorption Feeding difficulties in infancy Cardiomyopathy Myopathy Behavioral abnormality Constipation Dementia Hypogonadism Cerebral cortical atrophy Hyperuricemia Hyperostosis Dilation of lateral ventricles Scarring Cleft soft palate Organic aciduria Severe lactic acidosis Spinal dysraphism Temperature instability Small anterior fontanelle Motor delay Hypertension Macrocephaly Pneumonia Severe short stature Pontocerebellar atrophy Respiratory failure Arthralgia Diabetes insipidus Melanocytic nevus Sleep disturbance Elevated alkaline phosphatase Mutism Increased bone mineral density Abnormality of retinal pigmentation Subcutaneous nodule Bowing of the long bones Gastrointestinal hemorrhage Retinopathy Recurrent fractures Recurrent urinary tract infections Hallucinations Abnormality of the urinary system Retinal degeneration Polydipsia Delayed speech and language development Edema Hypoplasia of the pons Cerulean cataract Reduced tendon reflexes Postural tremor Limited elbow extension Resting tremor Central scotoma Posterior subcapsular cataract Abnormality of the thumb Dyslexia Absent Achilles reflex Areflexia of lower limbs Positive Romberg sign Red-green dyschromatopsia Tritanomaly Muscle cramps Limited wrist movement Extrapyramidal muscular rigidity Deviation of the 2nd finger Anterior subcapsular cataract Anterior cortical cataract Posterior cortical cataract Growth delay Intrauterine growth retardation Obesity Hypoglycemia Apnea Abnormality of the pinna Convex nasal ridge Sensory impairment Paresthesia Short chin Ptosis Brachydactyly Short palm High myopia Thickened skin Exotropia Ectopia lentis Increased intraocular pressure Anterior synechiae of the anterior chamber Mydriasis Iridodonesis Microspherophakia Retinal hole Phakodonesis Pectus excavatum Unsteady gait Inguinal hernia Deeply set eye Arachnodactyly Abnormal electroretinogram Deviation of finger Dimple chin Congenital finger flexion contractures Absent palmar crease Blindness Areflexia Reduced visual acuity Rigidity Abnormality of the nervous system Type II diabetes mellitus Optic nerve hypoplasia Progressive encephalopathy Cerebral atrophy Bowel incontinence Progressive spasticity Pulmonary embolism Congenital nystagmus Spinocerebellar tract degeneration Degeneration of the lateral corticospinal tracts Progressive spastic paraparesis Hyperlysinuria Spastic/hyperactive bladder High palate Epicanthus Long philtrum Proptosis Incoordination Neonatal hypotonia Downturned corners of mouth Dyskinesia High, narrow palate Full cheeks Underdeveloped nasal alae Hypsarrhythmia Decreased body weight Elbow flexion contracture Poor head control Hypoplasia of the brainstem Long palpebral fissure Thoracic scoliosis Toe walking Hyperammonemia Hyperglycemia Respiratory tract infection Reduced subcutaneous adipose tissue Severe intrauterine growth retardation Overlapping fingers Secundum atrial septal defect Ileus Neonatal insulin-dependent diabetes mellitus Meconium ileus Cerebellar agenesis Aplasia/Hypoplasia of the pancreas Skeletal muscle atrophy Babinski sign Recurrent respiratory infections Mental deterioration Spastic paraplegia Spastic paraparesis Paraplegia Lower limb muscle weakness Falls Sensory neuropathy Abnormal cerebellum morphology Progressive neurologic deterioration Clumsiness Frequent falls Lower limb spasticity Spastic gait Diplopia Leukodystrophy Paraparesis Abnormality of mesentery morphology



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