Hydrocephalus, and Arthritis

Diseases related with Hydrocephalus and Arthritis

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

Top matches:

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Other less relevant matches:

The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Arthritis

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Arthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Osteoarthritis Anemia Hypertelorism Immunodeficiency Abnormality of the skeletal system Frontal bossing Nystagmus Rheumatoid arthritis Growth delay Generalized hypotonia Delayed speech and language development Confusion Cognitive impairment Inguinal hernia Umbilical hernia Pain Recurrent infections Macrocephaly Thrombocytopenia Skeletal dysplasia Cleft palate Cataract Flexion contracture Muscle weakness Bicuspid aortic valve Psychosis Intellectual disability, severe Depressivity Hypocalcemia Mental deterioration Joint dislocation Dementia Hemolytic anemia High palate Peripheral demyelination Abnormality of cardiovascular system morphology Ptosis Abnormality of the dentition Fever Visual impairment Bifid uvula Dilatation Muscular hypotonia Abnormal facial shape Posteriorly rotated ears Hypospadias Patent ductus arteriosus Pancytopenia Arnold-Chiari malformation Retrognathia Strabismus Micrognathia Recurrent urinary tract infections Hernia Microcephaly Myelopathy Malar flattening Atrial septal defect Hypertension Obesity Proptosis Hallucinations Talipes equinovarus Weight loss Short neck Behavioral abnormality Abnormality of the metaphysis Kyphoscoliosis Midface retrusion Ataxia Respiratory insufficiency Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Inflammation of the large intestine Exotropia Cranial hyperostosis Delusions Meningocele Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Autoimmune thrombocytopenia Autoimmune hemolytic anemia Myopia Truncus arteriosus Ectopia lentis Aortic aneurysm Myopathic facies Disproportionate tall stature Abnormality of the sternum Dilatation of the cerebral artery Narrow nose Spondylolisthesis Unilateral renal agenesis Dermal translucency Acne Juvenile rheumatoid arthritis Myelomeningocele Right aortic arch Sacral meningocele Amblyopia Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Retinal vascular tortuosity Duodenal stenosis Impaired T cell function Perimembranous ventricular septal defect Seborrheic dermatitis Craniosynostosis Pectus carinatum Broad forehead Thin vermilion border Bruising susceptibility Interrupted aortic arch Graves disease Mitral valve prolapse Ascending tubular aorta aneurysm Aplasia of the uterus Blue sclerae Psoriasiform dermatitis Pulmonary artery aneurysm Abnormality of the pinna Hip dislocation Congenital cataract Retinal degeneration Abnormality of skin pigmentation Joint hypermobility Bulbous nose Aseptic necrosis Dysmetria Autoimmunity Blepharophimosis Apathy Epicanthus Macrotia Anxiety Hypothyroidism Narrow mouth Abnormal heart morphology Telecanthus High, narrow palate Gingival overgrowth Abnormality of the gingiva Cerebellar atrophy Ventricular septal defect Hypoplasia of the corpus callosum Chorea Renal agenesis Neoplasm Sleep apnea Cholelithiasis Motor delay Nasal speech Hyperreflexia Ventriculomegaly Schizophrenia Conductive hearing impairment Cleft lip Joint hyperflexibility Purpura Otitis media Tinnitus Specific learning disability Chronic otitis media Bowel incontinence Cor pulmonale Spina bifida Thoracolumbar kyphosis Renal dysplasia Primary amenorrhea Low posterior hairline Tetralogy of Fallot Low-set ears Amenorrhea Osteopetrosis Gait ataxia Rhinitis Paresthesia Hepatosplenomegaly Mandibular prognathia Congestive heart failure Renal insufficiency Optic atrophy Spasticity Sensorineural hearing impairment Micromelia Areflexia Facial palsy Malabsorption Long thorax Nephropathy Genu valgum Brachydactyly Gliosis Urinary incontinence Migraine Paraparesis Kyphosis Clinodactyly of the 5th finger Abnormal joint morphology Severe short stature Prominent forehead Epiphyseal dysplasia High forehead Abnormal form of the vertebral bodies Carious teeth Peripheral axonal neuropathy Dysarthria Tremor Neurodegeneration Abnormality of pelvic girdle bone morphology Gastrointestinal infarctions Spondylometaphyseal dysplasia Fetal akinesia sequence Abnormally large globe Hematochezia Abnormal cortical bone morphology Varicose veins Obsessive-compulsive behavior Flared iliac wings Dysdiadochokinesis Enlarged joints Osteolytic defects of the phalanges of the hand Holoprosencephaly Abnormality of the hand Rough bone trabeculation Aplasia/Hypoplasia of the lungs Reduced consciousness/confusion Thoracic kyphoscoliosis Narrow palpebral fissure Multicystic kidney dysplasia Aplasia/Hypoplasia of the earlobes Abnormality of the intervertebral disk Abnormal pupil morphology Open mouth Hypoplasia of the brainstem Basal ganglia calcification Abnormality of the ear Alopecia of scalp Limb undergrowth Pulmonary artery atresia Abnormality of the endocrine system Echolalia Abnormality of the ribs Interphalangeal joint contracture of finger Pierre-Robin sequence Sprengel anomaly Premature loss of teeth Short ribs Hearing abnormality Akinesia Pseudoarthrosis Subarachnoid hemorrhage Abnormal eyelash morphology Multiple joint contractures Short finger Anal stenosis Transient ischemic attack Gingivitis Aortic dissection Periodontitis Submucous cleft hard palate Axonal loss Hypoplasia of the odontoid process Caudal appendage Cervical instability Severe platyspondyly Peripheral arteriovenous fistula Arteriovenous fistulas of celiac and mesenteric vessels Uterine prolapse Uterine rupture Arterial rupture Foot acroosteolysis Spontaneous pneumothorax Premature loss of primary teeth Molluscoid pseudotumors Coronary artery aneurysm Gingival recession Normal pressure hydrocephalus Renovascular hypertension Cystocele Arterial stenosis Absent earlobe Ocular pain Arteriovenous fistula Cigarette-paper scars Abnormality of hair texture Arterial dissection Internal hemorrhage Colonic diverticula Peripheral neuropathy Excessive wrinkled skin Hypoplastic lacrimal duct Premature delivery because of cervical insufficiency or membrane fragility Abnormal oral frenulum morphology Relatively short spine Abnormal enchondral ossification Anisospondyly Underdeveloped nasal alae Vesicoureteral reflux Flared femoral metaphysis Hypoplastic cervical vertebrae Short diaphyses Anal atresia Pulmonic stenosis Flared humeral metaphysis Snail-like ilia Aggressive behavior Hemothorax Aplasia/Hypoplasia of the abdominal wall musculature Bladder diverticulum Long coccyx Hyperactivity Dumbbell-shaped metaphyses Absent speech Halberd-shaped pelvis Hyperplasia of the femoral trochanters Absent primary metaphyseal spongiosa Pneumothorax Periorbital edema Hypermobility of distal interphalangeal joints Abnormal metaphyseal vascular invasion Joint stiffness Narrow chest Spastic gait Thickened calvaria Femoral bowing Neurodevelopmental delay Open bite Bowing of the legs Flat occiput Heart murmur Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Limb ataxia Limb dystonia Tall stature Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Type II diabetes mellitus Optic disc pallor Hip dysplasia Decreased antibody level in blood Dental malocclusion Delayed myelination Progressive cerebellar ataxia Macroglossia Highly arched eyebrow Bronchitis Severe sensorineural hearing impairment Abnormality of the foot Oligosacchariduria Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Synostosis of joints Patellar dislocation Cerebral dysmyelination Retinal thinning Long ear Vacuolated lymphocytes Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Thick eyebrow Hypermetropia Arthrogryposis multiplex congenita Unilateral lung agenesis Coarctation of aorta Iris coloboma Polymicrogyria Astigmatism Generalized tonic-clonic seizures Microtia Short philtrum Attention deficit hyperactivity disorder Abnormality of the kidney Hydronephrosis Microphthalmia Hypertonia Unilateral primary pulmonary dysgenesis Congenital conductive hearing impairment Broad thumb Perineal fistula Vascular ring Central nervous system degeneration Psychotic episodes Respiratory failure Velopharyngeal insufficiency Giant platelets Paranoia Low-set, posteriorly rotated ears Hemoptysis Camptodactyly of finger Mood swings Platybasia Platyspondyly Short palpebral fissure Sclerocornea Abnormality of the cerebral white matter Skeletal muscle atrophy Neurological speech impairment Corneal opacity Respiratory tract infection Coarse facial features Osteopenia Recurrent respiratory infections Babinski sign Delayed skeletal maturation Cerebral atrophy Splenomegaly Intellectual disability, mild Myopathy Gait disturbance Hepatomegaly Tetany Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Femoral hernia Hypoplasia of the thymus Anterior segment developmental abnormality Esophageal atresia Redundant skin Prematurely aged appearance Orthostatic hypotension Cerebral hemorrhage Leukemia Scarring Hyperlordosis Apnea Impotence Abnormality of the nervous system Malnutrition Rigidity Arthralgia Gastroesophageal reflux Aphasia Axonal degeneration Decreased number of peripheral myelinated nerve fibers Sleep disturbance Amyloidosis Syringomyelia Increased CSF protein Restrictive cardiomyopathy Biconvex vertebral bodies Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Multiple myeloma Multiple suture craniosynostosis Cystic medial necrosis Ascending aortic dissection Dural ectasia Oral cleft Lymphoma Arterial tortuosity Spastic paraparesis Spinal canal stenosis Hip contracture Neuroblastoma Disproportionate short stature Myeloid leukemia Tibial bowing Limited elbow extension Abnormal autonomic nervous system physiology Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Back pain Genu varum Disproportionate short-limb short stature Cachexia Short long bone Infantile muscular hypotonia Atrioventricular block Acanthosis nigricans Clonus Short toe Rhizomelia Abnormal lung morphology Recurrent otitis media Tetraparesis Epidermal acanthosis Lumbar hyperlordosis Overgrowth Unilateral ptosis Thoracic aortic aneurysm Obstructive sleep apnea Abnormality of the metacarpal bones Camptodactyly Joint laxity Pes planus Recurrent fractures Ectodermal dysplasia Clinodactyly Abnormality of epiphysis morphology Lymphedema Bone pain Increased bone mineral density Bone marrow hypocellularity Downslanted palpebral fissures Cranial nerve paralysis Increased susceptibility to fractures Dolichocephaly Abnormality of the vertebral endplates Mandibular osteomyelitis Tooth abscess Elevated serum acid phosphatase Abnormal leukocyte morphology Lumbar scoliosis Hyperostosis Hip osteoarthritis Fractures of the long bones Extramedullary hematopoiesis Generalized osteosclerosis Facial paralysis Abnormal cranial nerve morphology Short distal phalanx of finger Facial asymmetry Stroke-like episode Hallux valgus Constrictive median neuropathy Long toe Sagittal craniosynostosis Abnormal renal physiology High anterior hairline Sensory ataxia Soft skin Scaphocephaly Urinary retention Aortic root aneurysm Psychomotor deterioration Atrophic scars Orthostatic hypotension due to autonomic dysfunction Vitreous floaters Arachnodactyly Cardiac amyloidosis Amyloid deposition in the vitreous humor Edema Microretrognathia Finger clinodactyly Joint contracture of the hand Blindness Mitral regurgitation Visual loss Pneumonia Eczema Postaxial hand polydactyly Asthma Paralysis Abnormality of the elbow Spinal cord compression Keratoconus Hyperhomocystinemia Pectus excavatum Headache Arrhythmia Cryptorchidism Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Decreased methylcobalamin Glaucoma Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Homocystinuria Methylmalonic aciduria Megaloblastic anemia Thromboembolism Alopecia Diarrhea Slurred speech Short chin Scleroderma Fragile skin Abnormal heart valve morphology Telangiectasia of the skin Narrow nasal bridge Macule Aplasia/Hypoplasia of the eyebrow Melanocytic nevus Osteomyelitis Hypokalemia Abnormality of the urinary system Abnormal intestine morphology Osteolysis Congenital hip dislocation Vomiting Cardiac arrest Telangiectasia Subcutaneous nodule Abnormality of the face Thin skin Microdontia Abnormality of the skin Premature birth Abnormal bleeding Flat face Vertigo Protruding ear Cardiomyopathy Deeply set eye Hemiplegia Atherosclerosis Megalencephaly Cervical myelopathy Cardiomegaly Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Cervical cord compression Hypopnea Obstructive lung disease Central sleep apnea Bilateral sensorineural hearing impairment Neonatal short-limb short stature Chronic myelogenous leukemia Hemiparesis Recurrent ear infections Hypoxemia Multiple epiphyseal dysplasia Vasculitis Abnormality of femur morphology Central apnea Dysuria Upper airway obstruction Communicating hydrocephalus Generalized joint laxity Failure to thrive Neuronal loss in central nervous system Abnormality of retinal pigmentation Long face Anorexia Broad-based gait Pulmonary arterial hypertension Hyporeflexia Abnormality of extrapyramidal motor function Pigmentary retinopathy Memory impairment Aciduria Neutropenia Metabolic acidosis Hepatic steatosis Hematuria Constipation Paraplegia Hypotension Unsteady gait Smooth philtrum Lower limb muscle weakness Lethargy Retinopathy Feeding difficulties in infancy Polyneuropathy Proteinuria Difficulty walking Coma Acidosis Reduced visual acuity Cerebral cortical atrophy Feeding difficulties Spinocerebellar tract disease in lower limbs


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