Visual impairment, and Waddling gait

Diseases related with Visual impairment and Waddling gait

In the following list you will find some of the most common rare diseases related to Visual impairment and Waddling gait that can help you solving undiagnosed cases.


Top matches:

Low match SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA


Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

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 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE


Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE Is also known as metaphyseal chondrodysplasia, murk jansen type

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE

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Other less relevant matches:

Low match NEURAMINIDASE DEFICIENCY


Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Low match SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Low match DUCHENNE MUSCULAR DYSTROPHY


Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

Low match AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY


Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

Low match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Low 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

Low match MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors should be avoided (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10 Is also known as myasthenic myopathy, formerly|cms ib, formerly|lgm, formerly|myasthenia, limb-girdle, familial, formerly|cms1b, formerly|congenital myasthenic syndrome type ib, formerly

Related symptoms:

  • Strabismus
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10

Top 5 symptoms//phenotypes associated to Visual impairment and Waddling gait

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Visual impairment and Waddling gait. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Proximal muscle weakness Abnormal facial shape Short stature Global developmental delay Generalized hypotonia Hyperlordosis Difficulty walking Nystagmus Ptosis Hypertension Arrhythmia Strabismus Kyphosis Visual loss Diplopia Ataxia Seizures Recurrent respiratory infections Limb-girdle muscle weakness Toe walking Hearing impairment Easy fatigability Osteopenia Muscular dystrophy Blindness Distal amyotrophy

Rare Symptoms - Less than 30% cases


Fatigue Pectus carinatum Abnormality of the nervous system Hepatosplenomegaly Enlarged joints Metaphyseal cupping Skeletal dysplasia Fatigable weakness Splenomegaly Dyspnea Decreased fetal movement Cardiomyopathy Micrognathia Bulbar palsy Hepatomegaly Proptosis Sensorineural hearing impairment Kyphoscoliosis Falls Spinal rigidity Anemia Cardiomegaly Shoulder girdle muscle weakness Hyperactivity Elevated serum creatine phosphokinase Hyporeflexia Dilated cardiomyopathy Limb muscle weakness Sudden cardiac death Myopathy Motor delay Pain Limb-girdle muscular dystrophy Gowers sign Congenital muscular dystrophy Myotonia Muscle fiber atrophy Coxa valga EMG: myopathic abnormalities Proximal muscle weakness in lower limbs Shoulder girdle muscle atrophy Generalized muscle weakness Genu valgum Carious teeth Proximal lower limb amyotrophy Joint laxity Glaucoma Pes cavus Gait disturbance Congestive heart failure Bowing of the legs Vertigo Lumbar hyperlordosis Abnormality of color vision Osteolysis Facial palsy Intellectual disability, severe Growth delay Failure to thrive Brachydactyly Myopia Severe short stature Joint stiffness Pes planus Progressive visual loss Coarse facial features Bowing of the long bones Nyctalopia Talipes equinovarus Hyperreflexia High palate Lower limb muscle weakness Pectus excavatum Obesity Ophthalmoparesis Raynaud phenomenon Abnormality of the ulna Facial paralysis Abnormality of tibia morphology Slender build Absent muscle dystrophin expression Abnormality of femur morphology Extramedullary hematopoiesis Otosclerosis Red-green dyschromatopsia Abnormality of the humerus Nocturnal hypoventilation Urinary retention Paresthesia Respiratory distress Abnormality of the immune system Abnormal lung morphology Back pain Atrioventricular block Aplasia/Hypoplasia of the radius Reduced tendon reflexes Scapular winging Elbow flexion contracture Poor appetite Distal muscle weakness Ichthyosis Attention deficit hyperactivity disorder Palpitations Atrial fibrillation Hypertriglyceridemia Abnormality of the skull Mildly elevated creatine phosphokinase Cough Gangrene Hemiatrophy Abnormal diaphysis morphology Chest pain Cortical sclerosis Difficulty running Exertional dyspnea Difficulty climbing stairs Calf muscle hypertrophy Muscle cramps Optic nerve compression Craniofacial osteosclerosis Cortical thickening of long bone diaphyses Abnormal EKG Hypokalemia Ventricular arrhythmia Abnormal subcutaneous fat tissue distribution Exercise intolerance Macroglossia Progressive muscle weakness Elevated aldolase level Specific learning disability Hypoventilation Myoglobinuria Lower limb pain Abnormality of the radius Calf muscle pseudohypertrophy Muscle fiber necrosis Sclerosis of skull base Gastroparesis Cranial hyperostosis Lipodystrophy Limb pain Intestinal pseudo-obstruction Respiratory insufficiency due to muscle weakness Gastrointestinal dysmotility Breech presentation Congenital stationary night blindness Cranial nerve compression Diaphyseal sclerosis Diaphyseal dysplasia Chromosome breakage Male pseudohermaphroditism Abnormality of the vertebral column Sprengel anomaly Generalized amyotrophy Weak cry Respiratory arrest Motor polyneuropathy Distal lower limb muscle weakness Obstructive sleep apnea Central hypotonia Neck muscle weakness Sensory neuropathy Delayed eruption of teeth Limitation of joint mobility Central sleep apnea Anorexia Stridor Nasal speech Poor suck Bone pain Increased bone mineral density Bone marrow hypocellularity Dysphonia Spinal deformities EEG with polyspike wave complexes Poor head control Acetylcholine receptor antibody positivity Feeding difficulties in infancy Mandibular prognathia Paralysis Hypogonadism Headache Frontal bossing Neurological speech impairment Optic atrophy EMG: impaired neuromuscular transmission Staring gaze Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes Apneic episodes precipitated by illness, fatigue, stress Nasal regurgitation Sudden episodic apnea Delayed puberty Vasculitis Microretrognathia Restrictive ventilatory defect Achilles tendon contracture Tinnitus Increased LDL cholesterol concentration Supraventricular arrhythmia Abnormality of pelvic girdle bone morphology Pelvic girdle muscle weakness Hyporeflexia of lower limbs Increased connective tissue Decreased HDL cholesterol concentration Cachexia Proximal muscle weakness in upper limbs Progeroid facial appearance Hyperostosis Ankle contracture Reduced subcutaneous adipose tissue Hypertrophic cardiomyopathy Rimmed vacuoles Elevated erythrocyte sedimentation rate Metaphyseal dysplasia Increased intracranial pressure Limb-girdle muscle atrophy Congenital hip dislocation Areflexia Scarring Cyanosis Esotropia Long face Leukopenia Arthrogryposis multiplex congenita Gastroesophageal reflux Polyhydramnios Dysphagia Permanent atrial fibrillation Feeding difficulties Low-set ears Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Absent muscle fiber emerin Pelvic girdle muscle atrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Ventricular escape rhythm Ophthalmoplegia Osteolytic defects of the phalanges of the hand Respiratory tract infection Tibial bowing Beaking of vertebral bodies Retinal atrophy Peripheral visual field loss Iris hypopigmentation Thoracic scoliosis Macular atrophy Disproportionate short stature High hypermetropia Short finger Femoral bowing Ectopia pupillae Flared metaphysis Metaphyseal irregularity Metaphyseal widening Cone/cone-rod dystrophy Coxa vara Rhizomelia Recurrent otitis media Abnormality of the ribs Limb undergrowth Short metacarpal Ovoid vertebral bodies Optic nerve coloboma Retinal dystrophy Hypertelorism Knee flexion contracture Short ribs Choanal atresia Overgrowth Retrognathia Brachycephaly Clinodactyly of the 5th finger Clinodactyly Abnormality of the skeletal system Hypoplastic inferior ilia Spondylometaphyseal dysplasia Tibial torsion Large central visual field defect Cupped ribs Severe platyspondyly Retinal thinning Narrow greater sacrosciatic notches Decreased hip abduction Abnormality of macular pigmentation Limited elbow movement Cone dysfunction syndrome Dental malocclusion Short palm Short long bone Cerebral cortical atrophy Tetraplegia Bulbous nose Talipes Paraplegia Poor speech Spastic paraplegia Short philtrum Wide mouth Neonatal hypotonia Babinski sign Spastic tetraplegia Absent speech Dystonia Hypertonia Cerebellar atrophy Hypoplasia of the corpus callosum Ventriculomegaly Downslanted palpebral fissures Wide nasal bridge Spasticity Microcephaly Narrow forehead Amblyopia Astigmatism Spastic dysarthria Platyspondyly Coloboma Postnatal growth retardation Photophobia Microphthalmia Prominent antihelix Shyness Everted upper lip vermilion Acetabular dysplasia Generalized joint laxity Stereotypy Facial hypotonia Genu recurvatum Overweight Abnormality of the periventricular white matter Progressive spastic paraplegia Long nose Decreased muscle mass Drooling Pointed chin Narrow face Nephrocalcinosis Disproportionate short-limb short stature Abnormality of the eye Scaling skin Aortic valve calcification Shallow acetabular fossae Subvalvular aortic stenosis Onycholysis High anterior hairline Periodontitis Heart block Epiphora Psoriasiform dermatitis Aortic valve stenosis Mitral valve calcification Decreased body weight Cutaneous photosensitivity Hypoplasia of the maxilla Smooth philtrum Hip dislocation Broad forehead Thin upper lip vermilion Osteoporosis Recurrent infections Abnormality of the dentition Hip subluxation Premature loss of permanent teeth Increased urinary O-linked sialopeptides Vomiting EEG abnormality Respiratory failure Pneumonia Constipation Dilatation Cerebral atrophy Intellectual disability, mild Behavioral abnormality Diarrhea Respiratory insufficiency Unerupted tooth Delayed speech and language development Cognitive impairment Expanded phalanges with widened medullary cavities Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Aortic arch calcification Hypoplasia of the tooth germ Tendon rupture Dentinogenesis imperfecta limited to primary teeth Urinary excretion of sialylated oligosaccharides Bone-marrow foam cells Elevated alkaline phosphatase Clubbing of fingers Tremor Peripheral neuropathy Cataract Prominent supraorbital arches in adult Thick skull base Metaphyseal dysostosis Wide cranial sutures Metaphyseal chondrodysplasia Hyperphosphaturia Misalignment of teeth Inguinal hernia Choanal stenosis Upper limb undergrowth Hypoparathyroidism Hip contracture Pathologic fracture Hypophosphatemia Rickets Hypercalcemia Prominent supraorbital ridges Hypercalciuria Hernia Dementia Cherry red spot of the macula Slurred speech Facial edema Vacuolated lymphocytes Foam cells Dysostosis multiplex Barrel-shaped chest Thoracic kyphosis Hand tremor Syringomyelia Epiphyseal stippling Hyperactive deep tendon reflexes Laryngomalacia Myoclonus Hydrops fetalis Choreoathetosis Progressive cerebellar ataxia Ascites Neurodegeneration Dysmetria Abnormality of movement Corneal opacity Mental deterioration Proteinuria Proximal amyotrophy



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