Pain, and Convex nasal ridge

Diseases related with Pain and Convex nasal ridge

In the following list you will find some of the most common rare diseases related to Pain and Convex nasal ridge that can help you solving undiagnosed cases.


Top matches:

Medium match FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Low match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA


Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

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Other less relevant matches:

Low match ATYPICAL WERNER SYNDROME


Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match ULNAR-MAMMARY SYNDROME


Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

ULNAR-MAMMARY SYNDROME Is also known as schinzel syndrome|ums|pallister ulnar-mammary syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR-MAMMARY SYNDROME

Low match PITT-HOPKINS SYNDROME


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Low match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Low match ARTERIAL TORTUOSITY SYNDROME; ATS


ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

Low match POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

Top 5 symptoms//phenotypes associated to Pain and Convex nasal ridge

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Micropenis Uncommon - Between 30% and 50% cases
Delayed puberty Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Convex nasal ridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Alopecia Abnormality of the dentition Micrognathia Osteoporosis Hypotrichosis Hyperinsulinemia Hypogonadism Diabetes mellitus High pitched voice Failure to thrive Generalized hypotonia Upslanted palpebral fissure Growth hormone deficiency Congestive heart failure Thin skin Cryptorchidism Hearing impairment Increased bone mineral density Skeletal muscle atrophy Dermal atrophy Fatigue Hypertriglyceridemia Laryngomalacia Hyperkeratosis Atherosclerosis Proptosis Lipoatrophy Joint stiffness Decreased fertility Narrow nasal ridge Prominent superficial veins Osteolytic defects of the phalanges of the hand Premature graying of hair Abnormality of the thorax Hypertelorism Decreased body weight Short clavicles Insulin resistance Hyperglycemia Sparse scalp hair Neoplasm Lipodystrophy Dental crowding High palate Cardiomyopathy Long philtrum Joint laxity Lack of skin elasticity Flexion contracture Abnormality of the skeletal system Short nose Small hand Chest pain Cataract Abnormality of the cardiovascular system Scoliosis Progeroid facial appearance Hypoplastic nipples Seizures Global developmental delay Postnatal growth retardation Aortic valve stenosis Prematurely aged appearance Muscular hypotonia

Rare Symptoms - Less than 30% cases


Sparse hair Hernia Mandibular prognathia Scarring Subcutaneous calcification Abdominal distention Neoplasm of the small intestine Neoplasm of the oral cavity Hypoplasia of penis Inguinal hernia Round face Full cheeks Narrow mouth Edema Postaxial polydactyly Single transverse palmar crease Pectus carinatum Short distal phalanx of finger Hypospadias Anal atresia Polydactyly Generalized lipodystrophy Ventricular septal defect Osteopenia Heart murmur Sensorineural hearing impairment Abnormal facial shape Macrocephaly Midface retrusion Macrotia Stroke Glycosuria Hypogonadotrophic hypogonadism Dilatation Dilated cardiomyopathy Cleft lip Delayed skeletal maturation Delayed eruption of teeth Hypodontia Fragile nails Premature ovarian insufficiency Ptosis Breast aplasia Increased body weight Osteolysis Acanthosis nigricans Hyperlipidemia Insulin-resistant diabetes mellitus Widely spaced teeth Down-sloping shoulders Bird-like facies Finger clinodactyly Progressive clavicular acroosteolysis Hiatus hernia Pes planus Hypopituitarism Thin vermilion border Hepatic steatosis Limitation of joint mobility Abnormal hair whorl Premature arteriosclerosis Arteriosclerosis Strabismus Abnormality of the voice Anal stenosis Hypergonadotropic hypogonadism Narrow face Abnormality of the hair Skin ulcer Abnormality of retinal pigmentation Myocardial infarction Type II diabetes mellitus Intellectual disability, severe Hypopigmentation of the skin Retinal degeneration Carcinoma Depressed nasal bridge Anterior pituitary hypoplasia Adrenocorticotropic hormone deficiency Supraventricular tachycardia Microcephaly Aortic regurgitation Mitral valve prolapse Ectopic posterior pituitary Tachycardia Long face Pulmonic stenosis Short philtrum Intellectual disability, moderate Hypertrophic cardiomyopathy Dyspnea Pectus excavatum Atrial septal defect Rocker bottom foot Cyanosis Aplasia/Hypoplasia of the skin Ovarian neoplasm Enlarged joints White forelock Abnormality of the testis Pili torti Chondrocalcinosis Peripheral arterial stenosis Abnormality of the cerebral vasculature Osteosarcoma Meningioma Pulmonary artery stenosis Neoplasm of the lung Alopecia of scalp Premature loss of teeth Renal neoplasm Telangiectasia of the skin Secondary amenorrhea Scleroderma Pes valgus Axillary apocrine gland hypoplasia Intermittent hyperventilation Narrow foot Failure of eruption of permanent teeth Small cerebral cortex Square face Large beaked nose Happy demeanor Clinodactyly Triangular nasal tip Unilateral oligodactyly Abnormal pattern of respiration Gastroesophageal reflux Thickened helices Breathing dysregulation Abnormality of the helix Thick eyebrow Clubbing of fingers Echolalia Ataxia Broad fingertip Coarse facial features Deformed radius Protruding ear Clinodactyly of the 5th finger Wide mouth Prominent nasal bridge Imperforate hymen Deeply set eye Short 4th toe Abnormal heart morphology Abnormality of cardiovascular system morphology Neurological speech impairment Short 5th toe Misalignment of teeth Intrauterine growth retardation Severe global developmental delay Severe short stature Hepatomegaly Anemia Abnormality of the pinna Cognitive impairment Overhanging nasal tip Astigmatism Long uvula Prominent nose Feeding difficulties Autism Abnormal autonomic nervous system physiology Apnea Sleep apnea Aplasia/Hypoplasia of the corpus callosum Absent speech Thick vermilion border Pes cavus Pneumonia Abnormal palate morphology Intellectual disability, progressive Truncal ataxia Autistic behavior Postnatal microcephaly Aganglionic megacolon Open mouth Thick lower lip vermilion Tapered finger Narrow forehead Specific learning disability Wide intermamillary distance Constipation Aggressive behavior Hypoplasia of the corpus callosum Gait ataxia Encephalopathy Dysphasia Esophagitis Motor delay Anxiety Wide nasal bridge Myopia Acrocyanosis Talipes equinovarus Sleep disturbance Hyperventilation Hodgkin lymphoma Aphasia Hypopigmented skin patches Supernumerary nipple Overlapping toe Cupped ear Clubbing Self-injurious behavior Anteverted nares Short metatarsal Incoordination Coarse hair Short neck Mutism Colonic diverticula Hypothyroidism Impotence Oculomotor nerve palsy Rectal prolapse Abnormal thrombosis Bladder diverticulum Pituitary hypothyroidism Male hypogonadism Soft skin Growth hormone excess Tracheomalacia Aortic root aneurysm Keratoconus Atrophic scars Blurred vision Epiphora Secondary growth hormone deficiency Hyperextensible skin Easy fatigability Ischemic stroke Cutis laxa Short chin Recurrent pneumonia Gynecomastia Diplopia Telangiectasia Ventricular hypertrophy Congenital diaphragmatic hernia Amenorrhea Progressive visual loss Hypotension Galactorrhea Decreased fertility in females Vertigo Abnormality of hair density Microphallus Panhypopituitarism Poor appetite Diabetes insipidus Bilateral cryptorchidism Holoprosencephaly Depressed nasal ridge Hypotelorism Oral cleft Cleft upper lip Abdominal pain Cleft palate Aortic tortuosity Telangiectases of the cheeks Arterial tortuosity Internal ophthalmoplegia Curved fingers Generalized arterial tortuosity Soft, doughy skin Fourth cranial nerve palsy Cranial nerve VI palsy Decreased fertility in males Bitemporal hemianopia Adrenocorticotropin deficient adrenal insufficiency Dyspareunia Female hypogonadism Sudden loss of visual acuity Decreased circulating ACTH level Decreased female libido Bruising susceptibility Arachnodactyly Elevated hepatic transaminase Abnormality of the nail Agenesis of permanent teeth Steatorrhea Hydroureter Dextrocardia Congenital sensorineural hearing impairment Clitoral hypertrophy Portal hypertension Abnormality of the genitourinary system Oligodontia Severe muscular hypotonia Hyperbilirubinemia Pointed chin Hypocalcemia Situs inversus totalis Facial cleft Cafe-au-lait spot Cholestasis Microdontia Underdeveloped nasal alae Intestinal malrotation Generalized muscle weakness Hypoplasia of the maxilla Downturned corners of mouth Hepatic failure Malabsorption Small for gestational age Abnormal cardiac septum morphology Abnormality of the liver Hydronephrosis Anteriorly placed anus Exocrine pancreatic insufficiency Blepharophimosis Septate vagina Pallor Umbilical hernia Respiratory failure Headache Vomiting Blindness Respiratory distress Downslanted palpebral fissures Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Absent lacrimal punctum Fair hair Increased VLDL cholesterol concentration Laryngeal web Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Abnormality of the pancreas Rectovaginal fistula Hypoproteinemia Abnormal hair pattern Calvarial skull defect Aplasia of the pectoralis major muscle Mitral valve calcification Hernia of the abdominal wall Reduced subcutaneous adipose tissue Limb-girdle muscle atrophy Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Hematemesis Wide cranial sutures Broad distal phalanx of finger Hypoplasia of teeth Calcinosis Vertebral compression fractures Narrow nose Arthropathy Spinal rigidity Hypermelanotic macule Aplasia/Hypoplasia of the clavicles Delayed cranial suture closure Glucose intolerance Focal segmental glomerulosclerosis Hyperostosis Absent eyebrow Congenital muscular dystrophy Glomerulosclerosis Wormian bones Hyperpigmentation of the skin Large fontanelles Epidermal acanthosis Nephrotic syndrome Abnormality of the skin Osteolytic defects of the distal phalanges of the hand Increased adipose tissue around the neck Sepsis Sparse body hair Abnormality of circulating leptin level Sclerosis of hand bone Patchy hypo- and hyperpigmentation Intervertebral disc degeneration Neoplasm of the thyroid gland Abnormality of the Achilles tendon Fasting hyperinsulinemia Aortic valve calcification Neoplasm of the breast Abnormal hair quantity Abnormality of the pulmonary artery Exercise-induced myalgia Aplasia/Hypoplasia of the eyebrow Thin clavicles Coronary artery atherosclerosis Calf muscle hypertrophy Reduced bone mineral density Neoplasm of the skin Hip dysplasia Short palm Congenital cataract Stiff elbow Foamy urine Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Dental malocclusion Abnormality of skin pigmentation Malar flattening Mastoiditis Decreased testicular size Coma Nephropathy Leukemia Retinopathy Rod-cone dystrophy Behavioral abnormality Peripheral neuropathy Visual impairment Reversed usual vertebral column curves Quadricuspid aortic valve Bacterial endocarditis Asthenia Spontaneous abortion Tricuspid valve prolapse Endocarditis Thromboembolism Striae distensae Abnormal heart valve morphology Disproportionate tall stature Mitral regurgitation Atrial fibrillation Limb undergrowth High, narrow palate Broad forehead Thin upper lip vermilion Posteriorly rotated ears Hoarse voice Type I diabetes mellitus Nail dystrophy Chorioretinitis Muscular dystrophy Paralysis Abnormality of the kidney Proximal muscle weakness Rigidity Retrognathia Myopathy Muscle weakness Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Gastrointestinal carcinoma Poliosis Soft tissue sarcoma Cutaneous melanoma Macular degeneration Thyroid carcinoma Slender build Posterior subcapsular cataract Subcapsular cataract Myeloid leukemia Polyphagia Squamous cell carcinoma Polyuria Polydipsia Myelodysplasia Sarcoma Breast carcinoma Melanoma Kyphosis Dementia Absent axillary hair Split hand Short humerus Hyperthyroidism External genital hypoplasia Hypoplasia of the ulna Hypoplastic toenails Bifid scrotum Hand polydactyly Pyloric stenosis Hypoplasia of the radius Abnormality of the metacarpal bones Abnormality of the fingernails Abnormality of the genital system Renal hypoplasia Absent radius Interphalangeal joint contracture of finger Postaxial hand polydactyly Wide nose Camptodactyly of finger Camptodactyly Hyperhidrosis Arrhythmia Obesity Tapering pointed ends of distal finger phalanges Arteriosclerosis of small cerebral arteries Regional abnormality of skin Abnormal trabecular bone morphology Insulin-resistant diabetes mellitus at puberty Oligodactyly Shawl scrotum Carotid artery stenosis Wide nasal base Abnormal external genitalia Body odor Aplasia of the ulna Absent hand Abnormality of the radius Abnormality of temperature regulation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Broad eyebrow Subglottic stenosis Gastroschisis Abnormality of the humerus Breast hypoplasia Inverted nipples Perimembranous ventricular septal defect Gonadotropin deficiency Broad face Abnormality of the uterus Wolff-Parkinson-White syndrome Sparse lateral eyebrow Sparse axillary hair Ectopic anus Abnormality of the wrist Hypoplastic scapulae Abnormality of finger Abnormality of the clavicle Sprengel anomaly Absence of pubertal development Narrow nasal tip Prominent forehead Aspiration Keratoconjunctivitis sicca Thin ribs Exertional dyspnea Prolonged QT interval Multiple joint contractures Metaphyseal widening Intracranial hemorrhage Nasal speech Relative macrocephaly Hypercholesterolemia Aminoaciduria Coxa valga Sparse and thin eyebrow Thrombocytosis Hypohidrosis Left ventricular hypertrophy Broad-based gait Osteoarthritis Cardiomegaly Nail dysplasia Infertility Narrow chest Carious teeth Hypermetropia Hip dislocation Microtia Conductive hearing impairment Renal cell carcinoma Abnormal EKG Bilateral coxa valga Absence of subcutaneous fat Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Hypoplastic facial bones Prominent scalp veins Parietal bossing Widely patent fontanelles and sutures Intermittent claudication Corneal arcus Sinus tachycardia Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Hip pain Absent eyelashes Aplastic clavicle Carcinoid tumor Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Small face Generalized osteoporosis Angina pectoris Ovoid vertebral bodies Hyperphosphatemia Transient ischemic attack Bilateral postaxial polydactyly



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