Dysarthria, and Osteopenia

Diseases related with Dysarthria and Osteopenia

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

Top matches:

Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), an autosomal recessive disorder caused by mutation in the CTC1 gene (OMIM ) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).

LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC Is also known as labrune syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Other less relevant matches:

Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

High match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Osteopenia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Osteopenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Cognitive impairment Delayed speech and language development Hydrocephalus Macrocephaly Nystagmus Abnormality of the cerebral white matter Short stature Growth delay Tremor Spasticity Hypertelorism Sparse hair Genu valgum Intellectual disability, mild Abnormality of the skeletal system Delayed skeletal maturation Pectus carinatum Osteoporosis Narrow palate Myopia Strabismus Optic atrophy Hypertension Depressivity Anemia Short neck Thrombocytopenia Frontal bossing Abnormal pyramidal sign Muscular hypotonia Ptosis Kyphoscoliosis Hyperhidrosis Abnormality of the dentition Cerebral atrophy Feeding difficulties Hernia Inguinal hernia Motor delay Coarse facial features High palate Abnormality of cardiovascular system morphology Hypermetropia Behavioral abnormality Dysphagia Cardiomyopathy Neurological speech impairment Ventriculomegaly Hepatomegaly Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Abnormal heart morphology Failure to thrive Pulmonic stenosis Dental malocclusion Cafe-au-lait spot Kyphosis Macrotia Epicanthus Posteriorly rotated ears Blindness Long philtrum Sleep disturbance Pain Micrognathia Depressed nasal bridge Neoplasm Respiratory insufficiency Hemiparesis EEG abnormality Hyperreflexia Heart murmur Anteverted nares Leukoencephalopathy Leukodystrophy Hip dysplasia Cerebral calcification Prominent forehead Gastrointestinal hemorrhage Gliosis Dysmetria Neurodevelopmental delay Mental deterioration Abnormal facial shape Gait disturbance Infantile muscular hypotonia

Rare Symptoms - Less than 30% cases

Hemangioma Proptosis Autism Hypoglycemia Peripheral axonal neuropathy Polyhydramnios Leukemia Pruritus Gastroesophageal reflux Abnormality of skin pigmentation Overgrowth Abnormality of the cardiovascular system Mitral valve prolapse Hyperkeratosis Bowel incontinence Cerebral cortical atrophy Weight loss Low-set ears Downslanted palpebral fissures Ventricular septal defect Atrial septal defect Constipation Edema Respiratory failure Short nose Large face Pectus excavatum Tetraplegia Peripheral demyelination Sleep apnea Precocious puberty Feeding difficulties in infancy Megalencephaly Aqueductal stenosis Coarctation of aorta Multiple cafe-au-lait spots Neurofibromas Hyperextensible skin Talipes equinovarus High, narrow palate Intellectual disability, severe Myopathy Full cheeks Splenomegaly Malar flattening Nevus Premature birth Webbed neck Chronic otitis media Poor suck Growth hormone deficiency Relative macrocephaly Decreased body weight Lymphedema Hyperpigmentation of the skin Umbilical hernia Macroglossia Respiratory tract infection Failure to thrive in infancy Cataract Hyperextensibility of the finger joints Astigmatism Cutis laxa Abnormal mitral valve morphology Deep palmar crease Abnormality of the testis Thick upper lip vermilion Irritability Woolly hair Rhabdomyosarcoma Schwannoma Arnold-Chiari type I malformation Hearing impairment Generalized hyperpigmentation Curly hair Joint hypermobility Abnormality of the sternum Embryonal rhabdomyosarcoma Open bite Thick vermilion border Vestibular Schwannoma Large for gestational age Pleural effusion Redundant skin Cryptorchidism Vomiting Deep philtrum Generalized-onset seizure Narrow forehead Apraxia Cerebral visual impairment Concave nail Hepatosplenomegaly Bone pain Slow-growing hair Spondylolisthesis Postnatal growth retardation Thin nail Fine hair Bulbous nose Nail dystrophy Recurrent fractures Hypotrichosis Hyperlordosis Decreased pulmonary function Hypogonadism Muscle weakness Alopecia Abnormal cerebellum morphology Recurrent respiratory infections Cerebellar atrophy Abnormality of the vasculature Visual impairment Gait ataxia Abnormality of extrapyramidal motor function Hemiplegia Inability to walk Abnormality of movement Dystonia Melena Duodenal ulcer Hematemesis Capillary malformation Deep plantar creases Bladder neoplasm Abnormal pulmonary valve morphology Brittle hair Triangular mouth Alveolar rhabdomyosarcoma Ulnar deviation of the wrist Body odor Papilloma Shyness Congestive heart failure Hypopnea Abnormality of vision Systolic heart murmur Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Palmoplantar hyperkeratosis Postprandial hyperglycemia Limited elbow movement Hypertonia Obsessive-compulsive behavior Biparietal narrowing Abnormal heart valve morphology Long palpebral fissure Infantile spasms Fasting hypoglycemia Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Hypoplasia of teeth Absent eyebrow Cubitus valgus Bronchomalacia Melanocytic nevus Ectropion Pneumothorax Scaling skin Sparse eyebrow Broad femoral neck Bilateral ptosis Abnormality of earlobe Ganglioneuroblastoma Fetal distress Optic nerve hypoplasia Encephalopathy Delayed gross motor development Retinal dystrophy High forehead Abnormal bleeding Abdominal distention Palmoplantar keratoderma Enlarged cerebellum Myofiber disarray Vitreomacular adhesion Hepatic steatosis Hydronephrosis Tendon rupture Aggressive behavior Telecanthus Vesicoureteral reflux Bruising susceptibility Falls Abnormality of the eye Long face Ichthyosis Dry skin Abnormality of the kidney Dolichocephaly Lymphangiectasis Abnormal cardiac septum morphology Scarring Macrocephaly at birth Intestinal malrotation Abnormality of the genitourinary system Submucous cleft hard palate Erythema Clinodactyly of the 5th finger Frontal hirsutism Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Deep-set nails Oculomotor apraxia Sparse eyelashes Multifocal atrial tachycardia Abnormality of the nail Aspiration Choroid plexus papilloma Congenital neuroblastoma Thickened skin Bladder carcinoma Open mouth Inflammatory abnormality of the skin Myocardial infarction Thickened Achilles tendon Low posterior hairline Cardiomegaly Progressive visual loss Cardiomyocyte hypertrophy Loose anagen hair Neonatal sepsis Abnormal eyelash morphology Anal stenosis Carcinoma Wide nose Tachycardia Neuroblastoma Joint hyperflexibility Delayed puberty Arthrogryposis multiplex congenita Wide mouth Apnea Spinocerebellar tract disease in lower limbs Rhabdomyolysis Joint laxity Abnormality of the nervous system Ulnar deviation of finger Severe short stature Postural instability Pes cavus Arrhythmia Absent speech Renal insufficiency Oral aversion Tracheomalacia Multiple plantar creases Central hypotonia Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Syringomyelia Inappropriate crying Hematuria Keratoconus Neonatal hypoglycemia Hypoplastic toenails Laryngomalacia Arnold-Chiari malformation Pyloric stenosis Abnormal dermatoglyphics Acanthosis nigricans Aortic aneurysm Abnormality of the fingernails Hyperglycemia Bilateral cryptorchidism Short chin Abnormality of dental enamel Pointed chin Hoarse voice Abnormality of the hair Ascites Hydrops fetalis Tricuspid regurgitation Rocker bottom foot Wide anterior fontanel Long eyelashes Hypoplasia of dental enamel Atrial fibrillation Reduced subcutaneous adipose tissue Thick lower lip vermilion Epidermal acanthosis Eczema Abnormality of the skin Sepsis Cutaneous T-cell lymphoma Soft skin Underdeveloped supraorbital ridges Dystrophic fingernails Large forehead Verrucae Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Central apnea Gastrointestinal dysmotility Lack of skin elasticity Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Redundant neck skin Abnormality of the optic nerve Abnormal hair pattern Excessive wrinkled skin Labial hypoplasia Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Asymmetric septal hypertrophy Hypoplasia of the zygomatic bone Absent eyelashes Broad philtrum Enlarged kidney Alopecia of scalp Atopic dermatitis Poor appetite Abnormality of the pulmonary artery Abnormality of hair texture Obstructive sleep apnea Generalized ichthyosis Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Severe postnatal growth retardation Microscopic hematuria Thickened nuchal skin fold Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Fragile nails Functional abnormality of the gastrointestinal tract Laryngeal cleft Barrel-shaped chest Progeroid facial appearance Cavernous hemangioma Large earlobe Hypoplasia of the frontal lobes Optic nerve dysplasia Achilles tendon contracture Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Intellectual disability, moderate Skeletal dysplasia Flattened moderately deformed vertebrae Nausea and vomiting Emotional lability Oral-pharyngeal dysphagia Self-injurious behavior Encephalitis Dysphonia Abnormal autonomic nervous system physiology Muscle stiffness Clonus Diplopia Amenorrhea Hypotension Chorea Sudden cardiac death Abnormality of eye movement Cough Progressive spasticity Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the middle phalanges of the hand Abnormally low-pitched voice Coxa magna Accelerated bone age after puberty Chin with horizontal crease Cone-shaped epiphyses of the proximal phalanges of the hand Ivory epiphyses of the distal phalanges of the hand Developmental regression Hyporeflexia Agenesis of corpus callosum Dementia Diabetes mellitus Hypothyroidism Facial palsy Dysphasia Muscle fibrillation Flat capital femoral epiphysis Hyperactivity Spina bifida Sensorimotor neuropathy Aganglionic megacolon Hypsarrhythmia Tetralogy of Fallot Specific learning disability Lymphoma Paresthesia Facial asymmetry Malabsorption Attention deficit hyperactivity disorder Paralysis Autistic behavior Glaucoma Visual loss Atrophy/Degeneration affecting the brainstem Pseudobulbar signs Drowsiness Increased CSF protein Poor coordination Hypothermia Bulbar signs Hypersomnia Progressive macrocephaly Dilatation Recurrent singultus Hyperpigmented nevi Microcoria Diffuse demyelination of the cerebral white matter Peripheral neuropathy Headache Pear-shaped nose Pseudohypoparathyroidism Venous thrombosis Increased cerebral lipofuscin Pathologic fracture Short femoral neck Portal hypertension Increased susceptibility to fractures Bone marrow hypocellularity Telangiectasia Thin skin Febrile seizures Nail dysplasia Cirrhosis Small for gestational age Retinopathy Abnormality of the liver Intrauterine growth retardation Elevated serum acid phosphatase Calcinosis Brisk reflexes Loss of speech Wide nasal bridge Cerebellar hypoplasia Poor speech Unsteady gait Status epilepticus Fatigue Erlenmeyer flask deformity of the femurs Myoclonus Ophthalmoplegia Spastic tetraparesis Cachexia Loss of consciousness Hypersplenism Hematochezia Oral leukoplakia Leukonychia Smooth philtrum Thin eyebrow Spastic ataxia Avascular necrosis of the capital femoral epiphysis Sparse lateral eyebrow Progressive spastic paraplegia Short finger Cone-shaped epiphysis Short metatarsal Scapular winging Osteoarthritis Sparse scalp hair Microdontia Short metacarpal Delayed eruption of teeth Paraplegia Esophageal varix Spastic hemiparesis Morphological abnormality of the pyramidal tract Intestinal bleeding Metaphyseal sclerosis Retinal exudate Retinal telangiectasia Exudative retinopathy Brachydactyly Carious teeth Arthralgia Pes planus Thin upper lip vermilion Protruding ear Stroke Spastic paraplegia Atherosclerosis Reduced bone mineral density Synovial hypertrophy Tall stature Thickened calvaria Femoral bowing Bowing of the legs Flat occiput Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Low anterior hairline Spastic gait Hallucinations Limb ataxia Gingival overgrowth Amblyopia Bowing of the long bones Limb dystonia Decreased antibody level in blood Retinal degeneration Thick eyebrow Highly arched eyebrow Neurodegeneration Progressive cerebellar ataxia Delayed myelination Otitis media Progressive neurologic deterioration Optic disc pallor Type II diabetes mellitus Pancytopenia Psychosis Depressed nasal ridge Hypertrichosis Bronchitis Aseptic necrosis Abnormality of the foot Long ear Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Abnormality of the gingiva Severe sensorineural hearing impairment Abnormality of the helix Patellar dislocation Delusions Impaired smooth pursuit Dysostosis multiplex Hydrocele testis Reduced ejection fraction Craniofacial hyperostosis Cranial hyperostosis Abnormality of the rib cage Abnormal cornea morphology Synovitis Abnormal echocardiogram Thoracolumbar kyphosis Vacuolated lymphocytes Confusion Corneal opacity Breast carcinoma Neoplasm of the endocrine system Chronic myelogenous leukemia Renal phosphate wasting Glioma Nasolacrimal duct obstruction Carcinoid tumor Paraganglioma Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Astrocytoma Brain neoplasm Myocardial fibrosis Meningioma Neoplasm of the central nervous system Pulmonary fibrosis Incoordination Sarcoma Back pain Clitoral hypertrophy Sensory axonal neuropathy Hypophosphatemia Tibial bowing Gangrene Freckling Osteomalacia Renal cell carcinoma Severe vision loss Overweight Increased reactive oxygen species production Lisch nodules Gastrointestinal stroma tumor Broad forehead Spinal neurofibromas Anxiety Arthritis Mandibular prognathia Babinski sign Areflexia Midface retrusion Recurrent infections Immunodeficiency Skeletal muscle atrophy Sensorineural hearing impairment Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Inguinal freckling Fibular bowing Renal artery stenosis Leiomyosarcoma Dural ectasia Epigastric pain Soft tissue sarcoma Pseudoarthrosis Single ventricle Renovascular hypertension Plexiform neurofibroma Axillary freckling Neuroma Neurofibrosarcoma Optic nerve glioma Subcutaneous neurofibromas Acute promyelocytic leukemia Increased corneal curvature


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