Depressed nasal bridge, and Lower limb muscle weakness

Diseases related with Depressed nasal bridge and Lower limb muscle weakness

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Lower limb muscle weakness that can help you solving undiagnosed cases.


Top matches:

High match HURLER-SCHEIE SYNDROME


Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Medium match PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Medium match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

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Other less relevant matches:

Medium match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Medium match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY


Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY


Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Depressed nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

Medium match FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3


HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

Medium match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Medium match EHLERS-DANLOS SYNDROME TYPE 7B


Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Lower limb muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Lower limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cardiomyopathy Respiratory insufficiency Hyperlordosis Motor delay Intellectual disability Muscular hypotonia Generalized hypotonia Cardiomegaly Scoliosis Short stature Elevated serum creatine phosphokinase Limb muscle weakness Midface retrusion Joint hyperflexibility Edema Umbilical hernia Strabismus Arthralgia Global developmental delay Feeding difficulties Pes cavus Back pain Micrognathia Hernia Macrocephaly Hepatomegaly Waddling gait Proximal muscle weakness Hearing impairment Sensorineural hearing impairment Abnormal facial shape Intellectual disability, mild

Rare Symptoms - Less than 30% cases


Dilated cardiomyopathy Ptosis Left ventricular hypertrophy Hypertrophic cardiomyopathy Low-set ears Epicanthus Talipes equinovarus Flexion contracture Facial palsy High palate Mild short stature Vertigo Prominent forehead Hypertriglyceridemia Abnormality of the cerebral white matter Frontal bossing Failure to thrive Peripheral axonal neuropathy Osteoarthritis Restrictive ventilatory defect Toe walking Heart murmur Respiratory distress Pes planus Pectus excavatum Hypoglycemia Arrhythmia Dyspnea Dysphagia Exercise intolerance Dysarthria Difficulty walking Scapular winging Pain Difficulty climbing stairs Subcutaneous hemorrhage Progressive proximal muscle weakness Elevated hepatic transaminase Osteoporosis Soft skin Easy fatigability Hyperextensible skin Joint dislocation Blue sclerae Esotropia Generalized muscle weakness Polyneuropathy Bruising susceptibility Joint hypermobility Joint laxity Neonatal hypotonia Atrophic scars Lactic acidosis Opacification of the corneal stroma Joint stiffness Headache Hypermetropia Elbow flexion contracture Inguinal hernia Recurrent otitis media Dolichocephaly Glaucoma Hyperkeratosis Kyphoscoliosis Osteopenia Skeletal dysplasia Thick vermilion border Coarse facial features Hepatosplenomegaly Genu valgum Pectus carinatum Abnormality of the dentition Cognitive impairment Knee flexion contracture Visual impairment Limitation of joint mobility Congenital hip dislocation Hip dysplasia Anteverted nares Diarrhea Hypertelorism Personality disorder Generalized aminoaciduria Fatigable weakness of distal limb muscles Progressive spastic quadriplegia Glutaric aciduria White mater abnormalities in the posterior periventricular region Oliguria Loss of ability to walk Respiratory arrest Acute pancreatitis Nonketotic hypoglycemia Telangiectasia of the skin Axonal degeneration Abnormal corpus callosum morphology Telangiectasia of the oral mucosa Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Hypoglycemic coma Cataplexy Impaired mastication Lip telangiectasia Progressive distal muscle weakness Angiokeratoma Reye syndrome-like episodes Motor polyneuropathy Angiokeratoma corporis diffusum Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Ethylmalonic aciduria Increased muscle lipid content Limb tremor Hypersarcosinemia Glutaric acidemia Arthralgia of the hip Abnormality of the periventricular white matter Increased urinary O-linked sialopeptides Gastrointestinal inflammation Narcolepsy Distal sensory impairment of all modalities Renal cortical cysts Medulloblastoma Ketosis Exercise-induced myalgia Pachygyria Delayed gross motor development Clonus Leukodystrophy Decreased liver function Wide anterior fontanel Hallux valgus Anorexia Fragile skin Renal dysplasia Heterotopia Abnormality of the genital system Type I diabetes mellitus Tetraparesis Hyperextensibility of the finger joints Poor wound healing Aciduria Increased serum lactate Gliosis Tetraplegia Muscle cramps Renal cyst Coma Metabolic acidosis Cardiac arrest Wormian bones Hypoketotic hypoglycemia Glycosuria Organic aciduria Gastroesophageal reflux Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Myoglobinuria Drowsiness Fatigable weakness Acute kidney injury Rhabdomyolysis Hip dislocation Recurrent fractures Ventricular fibrillation Stridor Hemiplegia Polycystic kidney dysplasia Slurred speech Poor head control Mutism Ragged-red muscle fibers Hyperammonemia Spastic tetraparesis Pancreatitis Fatigable weakness of neck muscles Lymphedema Tinnitus Restricted neck movement due to contractures Hepatic fibrosis Ventricular hypertrophy Full cheeks Broad nasal tip Distal amyotrophy Thin vermilion border Accommodative esotropia Deeply set eye Thin upper lip vermilion Immunodeficiency Growth delay Absent muscle fiber emerin Decreased cervical spine flexion due to contractures of posterior cervical muscles Neurodevelopmental delay Proximal spinal muscular atrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Ventricular escape rhythm Peroneal muscle weakness Left anterior fascicular block Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Peroneal muscle atrophy Shoulder girdle muscle atrophy Hyperlipidemia Abnormality of lipid metabolism Increased LDL cholesterol concentration Flattened epiphysis High hypermetropia Downturned corners of mouth Smooth philtrum Facial paralysis Paralysis High-frequency hearing impairment Posteriorly rotated ears Short nose Esophoria Delayed speech and language development Ankle pain Knee osteoarthritis Osteochondritis Dissecans Increased muscle fatiguability Hypoplasia of the capital femoral epiphysis Small epiphyses Irregular epiphyses Multiple epiphyseal dysplasia Abnormal joint morphology Epiphyseal dysplasia Genu varum Abnormality of epiphysis morphology Hypodontia Short palm Micromelia Increased hepatic glycogen content Sinus tachycardia Atrial arrhythmia Abnormal atrioventricular conduction Aminoaciduria Bilateral sensorineural hearing impairment Palpitations Distal muscle weakness Papule Dry skin Atrial fibrillation Myocardial infarction Syncope Sudden cardiac death Falls Ichthyosis Distal sensory impairment Muscular dystrophy Rigidity Cerebral atrophy Obesity Thick lower lip vermilion Skeletal muscle atrophy Wide nasal bridge Subcutaneous nodule Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Telangiectasia Facial diplegia Abnormality of branched chain family amino acid metabolism Abnormality of the eye Peripheral neuropathy Supraventricular arrhythmia Spinal rigidity Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Achilles tendon contracture Shoulder girdle muscle weakness Distal lower limb amyotrophy Limb-girdle muscle weakness Proximal amyotrophy Vocal cord paralysis Heart block Sprengel anomaly Ankle contracture Rimmed vacuoles Hepatic steatosis Frequent falls Calf muscle hypertrophy Myotonia Congenital muscular dystrophy Spinal muscular atrophy Limb-girdle muscular dystrophy Lipodystrophy Atrioventricular block Ventricular arrhythmia EMG: myopathic abnormalities Reduced tendon reflexes Respiratory insufficiency due to muscle weakness Bradycardia Progressive muscle weakness Mildly elevated creatine phosphokinase Arterial dissection Pulmonary hypoplasia Flared iliac wings Peripheral edema Abnormal nerve conduction velocity Wide cranial sutures Platybasia Carpal bone hypoplasia Abnormal diaphysis morphology Abnormal cornea morphology Myelopathy Nasal obstruction Shield chest Sagittal craniosynostosis Cor pulmonale Abnormality of the radius Dilation of lateral ventricles Sparse pubic hair Broad ribs Sparse axillary hair Communicating hydrocephalus Hydrocele testis Tracheal stenosis Dysostosis multiplex Abnormality of the ulna Hypoplastic iliac wing Diastasis recti Spinal cord compression Corneal crystals Aortic valve calcification Obstructive sleep apnea Dermatan sulfate excretion in urine Abnormality of the skull base Posterior scalloping of vertebral bodies Abnormality of lysosomal metabolism Short tubular bones of the hand Small abnormally formed scapulae Abnormality of the breast Dilated third ventricle Exercise-induced muscle stiffness Abnormality of the tonsils Limited shoulder movement Abnormality of mucopolysaccharide metabolism Abnormality of the acetabulum Thickened ribs Abnormality of the optic disc Progressive flexion contractures Optic nerve compression Frontal hirsutism Cervical instability Urinary glycosaminoglycan excretion Delayed menarche Hernia of the abdominal wall Heparan sulfate excretion in urine Mitral valve calcification J-shaped sella turcica Hip subluxation Abnormality of the gingiva Chronic sinusitis Papilledema Abnormal metaphyseal trabeculation Corneal opacity Otitis media Asthma Macroglossia Sleep disturbance Wide nose Hirsutism Retinal degeneration Astigmatism Synophrys Carious teeth Platyspondyly Nyctalopia Microdontia Abnormal pyramidal sign Camptodactyly of finger Craniosynostosis Conductive hearing impairment Retrognathia Proptosis Abdominal pain Severe short stature Recurrent respiratory infections Constipation Splenomegaly Short neck Progressive visual loss Abnormality of the ribs Blepharitis Increased intracranial pressure Peripheral visual field loss Protuberant abdomen Rhinitis Spinal canal stenosis Hyperactive deep tendon reflexes Arthropathy Abnormal heart valve morphology Exertional dyspnea Multiple joint contractures Abnormality of dental morphology Chronic otitis media Coarse hair Arnold-Chiari malformation Lumbar hyperlordosis Abnormality of the metacarpal bones Widely spaced teeth Abnormality of dental enamel Coxa valga Generalized hirsutism Short ribs Aortic valve stenosis Abnormal vertebral morphology Abnormality of retinal pigmentation Thickened skin Lower limb spasticity Abnormal form of the vertebral bodies Abnormality of the sella turcica Abnormality of femoral epiphysis Nausea Aortic dissection Decreased pulmonary function Moderate myopia Wrist drop Premature rupture of membranes Palmoplantar cutis laxa Dural ectasia Keloids Thoracic kyphoscoliosis Lens luxation Bladder diverticulum Generalized joint laxity Atypical scarring of skin Molluscoid pseudotumors Aortic root aneurysm Keratoconus Slender finger Abnormality of the hip bone Disproportionate tall stature Aortic aneurysm Intracranial hemorrhage Corneal dystrophy Aortic regurgitation Torticollis Spina bifida occulta Hyperbilirubinemia Arterial rupture Spontaneous rupture of the globe Recurrent pneumonia Gait ataxia Nausea and vomiting Congenital cataract Lethargy Abnormality of the liver Respiratory tract infection Abnormality of the pinna Telecanthus Myalgia Jaundice High forehead Acidosis Weight loss Respiratory failure Progressive congenital scoliosis Areflexia Encephalopathy Depressivity Behavioral abnormality Vomiting Fatigue Tremor Fever Spasticity Cataract Ataxia Seizures Increased body weight Spina bifida Anterior scalloping of vertebral bodies Generalized tonic-clonic seizures Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Acute lymphoblastic leukemia Lower limb hyperreflexia Foot dorsiflexor weakness Gingival overgrowth Eczema Neutropenia Leukemia Giant platelets Polydactyly Thrombocytopenia Ventricular septal defect Abnormality of the humeral epiphysis Abnormality of the styloid process of ulna Contractures of the joints of the upper limbs Increased size of nasopharyngeal adenoids Widely patent coronal suture Abnormality of glycosaminoglycan metabolism Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Lower limb hypertonia Median cleft palate Joint contracture of the hand Microcornea Insulin resistance Tall stature Dental crowding Thin skin High myopia Decreased fetal movement Oligohydramnios Mitral valve prolapse Overgrowth Gastrointestinal hemorrhage Sepsis Abnormal bleeding Single transverse palmar crease Folate deficiency Retinal detachment Unsteady gait Arachnodactyly Talipes Retinopathy Abnormality of metabolism/homeostasis Dilatation Blindness Myopia Cryptorchidism Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Excessive wrinkled skin



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