Arthritis, and Wide nose

Diseases related with Arthritis and Wide nose

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

Top matches:

Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

MUCOLIPIDOSIS TYPE III ALPHA/BETA Is also known as ml iii|mucolipidosis type 3 alpha/beta|pseudo-hurler polydystrophy|mucolipidosis iiia|ml iii alpha/beta|ml iiia|ml 3 alpha/beta|mucolipidosis iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III ALPHA/BETA

Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

Medium match ACROMEGALY

Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Other less relevant matches:

Related symptoms:

  • Brachydactyly
  • Talipes equinovarus
  • Wide nose
  • Vertebral fusion
  • Tarsal synostosis


SOURCES: OMIM MESH MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CRISPONI SYNDROME

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Top 5 symptoms//phenotypes associated to Arthritis and Wide nose

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Long philtrum Malar flattening Short nose Kyphosis Anteverted nares Joint laxity Platyspondyly Sensorineural hearing impairment Micrognathia Osteoporosis Cleft palate Flexion contracture Short stature

Rare Symptoms - Less than 30% cases

Talipes equinovarus Short neck Depressed nasal bridge Midface retrusion Abnormal facial shape Skeletal dysplasia Frontal bossing Abnormality of epiphysis morphology Feeding difficulties Joint hyperflexibility Carpal bone hypoplasia Epiphyseal dysplasia Abnormal joint morphology Seizures Hypoplasia of the maxilla Camptodactyly of finger Narrow mouth Downslanted palpebral fissures Hearing impairment Hyperhidrosis Full cheeks Generalized hypotonia High palate Thickened skin Myopia Retinal detachment Short long bone Mandibular prognathia Coarse facial features Humeroradial synostosis Proximal symphalangism Finger symphalangism Visual loss Hypertelorism Cataract Ptosis Wide nasal bridge Clinodactyly Telecanthus Enlarged epiphyses Blepharophimosis Premature osteoarthritis Flat face High, narrow palate Cleft soft palate Bilateral sensorineural hearing impairment Interphalangeal joint contracture of finger Depressed nasal ridge Narrow face Congenital sensorineural hearing impairment Ulnar deviation of finger Abnormality of the wrist Ulnar deviation of the hand Carpal synostosis Delayed ability to walk Tarsal synostosis Long penis Spinal canal stenosis Palpebral edema Joint swelling Growth hormone excess Broad foot Abnormal toenail morphology Abnormality of the endocrine system Dysuria Neoplasm of the endocrine system Deep palmar crease Anterior hypopituitarism Pheochromocytoma Abnormal vitreous humor morphology Paraganglioma Ulnar deviation of the hand or of fingers of the hand Mitral valve prolapse Hypersomnia Galactorrhea Deep plantar creases Pituitary prolactin cell adenoma Dysmenorrhea Macrodactyly Broad jaw Proptosis Abnormality of reproductive system physiology Cortical diaphyseal thickening of the upper limbs Brachydactyly Vertebral fusion Lacrimal duct atresia Limited wrist movement Ulnar deviation of the wrist Abnormal cardiac septum morphology Hypohidrosis Abnormal heart morphology Constipation Limitation of joint mobility Sudden cardiac death Hypertonia Upslanted palpebral fissure Respiratory insufficiency Gait ataxia Cognitive impairment Thin upper lip vermilion Demyelinating peripheral neuropathy Chronic constipation Large face Abnormality of the foot Poor speech Smooth philtrum Unsteady gait Distal sensory impairment Triangular face Sensory impairment Broad-based gait Decreased nerve conduction velocity Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Malignant hyperthermia Areflexia Aplasia/Hypoplasia involving the nose Exostoses Syringomyelia Vitreoretinopathy Microcephaly Motor delay Hypoglycemia Delayed puberty Amenorrhea Primary amenorrhea Pierre-Robin sequence Insulin resistance Absence seizures Ketoacidosis Maternal diabetes Pectus excavatum Hyperinsulinemic hypoglycemia Dorsocervical fat pad Glossoptosis Arthropathy Delayed thelarche Failure to thrive Strabismus Impotence High myopia Pectus carinatum Delayed speech and language development Abnormality of the eye Peripheral neuropathy Generalized hyperpigmentation Long face Large hands Macrocephaly Retinal vascular tortuosity J-shaped sella turcica Vascular tortuosity Hyperopic astigmatism Irregular carpal bones Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Subperiosteal bone resorption Deficiency of N-acetylglucosamine-1-phosphotransferase Soft tissue swelling of interphalangeal joints Muscle weakness Muscular hypotonia Low-set ears Atrial septal defect Mucopolysacchariduria Intellectual disability, mild Elevated serum creatine phosphokinase Kyphoscoliosis Pes planus Hip dislocation Genu valgum Talipes Micromelia Broad nasal tip Nail dysplasia Congenital hip dislocation Joint dislocation Genu varum Stridor Shallow acetabular fossae Constrictive median neuropathy Flared metaphysis Retinal degeneration Pain Abnormality of the skeletal system Hernia Prominent forehead Osteopenia Umbilical hernia Respiratory tract infection Joint stiffness Craniosynostosis Retinopathy Corneal opacity Astigmatism Nevus Juvenile rheumatoid arthritis Hip dysplasia Specific learning disability Cardiomegaly Split hand Bone pain Short ribs Opacification of the corneal stroma Aortic regurgitation Rheumatoid arthritis Visual field defect Scleroderma Dysostosis multiplex Broad ribs Abnormality of the optic nerve Metaphyseal irregularity Dislocated radial head Acne Synophrys Long distal phalanx of finger Long proximal phalanx of finger Delayed phalangeal epiphyseal ossification Neoplasm Hypertension Fatigue Abnormality of the dentition Depressivity Diabetes mellitus Macrotia Anxiety Hypertrophic cardiomyopathy Broad forehead Paresthesia Caudal interpedicular narrowing Tapered finger Macroglossia Migraine Thick lower lip vermilion Mitral regurgitation Tall stature Hoarse voice Generalized hirsutism Abnormality of the fingernails Acanthosis nigricans Widely spaced teeth Cerebral palsy Sleep apnea Growth abnormality Slender distal phalanx of finger Slender proximal phalanx of finger Thoracic scoliosis Thoracolumbar kyphosis Tracheomalacia Irregular vertebral endplates Soft skin Thoracolumbar scoliosis Delayed epiphyseal ossification Generalized joint laxity Upper airway obstruction Spondyloepimetaphyseal dysplasia Generalized osteoporosis Small epiphyses Irregular epiphyses Hypoplasia of the capital femoral epiphysis Broad distal phalanx of finger Enlarged thorax Flat capital femoral epiphysis Abnormal calcification of the carpal bones Spinal dysraphism Inspiratory stridor Abnormal sacrum morphology Laryngeal stenosis Abnormal bone ossification Laryngotracheomalacia Narrow vertebral interpedicular distance Large joint dislocations Abnormality of the patella Posterior scalloping of vertebral bodies Slender metacarpals Narrow femoral neck Delayed patellar ossification Streaky metaphyseal sclerosis Abnormality of vertebral epiphysis morphology


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