Pain, and Blue sclerae

Diseases related with Pain and Blue sclerae

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

Top matches:

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.

OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13 Is also known as oi, type xiii

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Pain


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13

Medium match ALKAPTONURIA

Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).

ALKAPTONURIA Is also known as homogentisic acid oxidase deficiency|hereditary ochronosis

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hypertension
  • Kyphosis
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ALKAPTONURIA

Other less relevant matches:

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Perinatal lethal hypophosphatasia (PL-HPP) is a very rare form of hypophosphatasia (see this term) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.

PERINATAL LETHAL HYPOPHOSPHATASIA Is also known as hops|perinatal lethal rathburn disease|phosphoethanolaminuria|perinatal lethal phosphoethanolaminuria

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERINATAL LETHAL HYPOPHOSPHATASIA

Medium match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Medium match MEVALONIC ACIDURIA

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

Medium match DIASTROPHIC DWARFISM

Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Top 5 symptoms//phenotypes associated to Pain and Blue sclerae

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Arachnodactyly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Pain and Blue sclerae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Joint hypermobility Hernia Hyperextensible skin Increased susceptibility to fractures Inguinal hernia Recurrent fractures Micrognathia Umbilical hernia Talipes equinovarus Abnormality of the dentition Abnormal facial shape Joint dislocation Global developmental delay Abnormality of the skeletal system Craniosynostosis Kyphoscoliosis Increased bone mineral density Joint laxity Anemia Muscular hypotonia Abnormality of epiphysis morphology Joint hyperflexibility Kyphosis Pes planus Edema Cleft palate Osteoarthritis Hypertelorism Generalized hypotonia Camptodactyly Midface retrusion High palate Mitral valve prolapse Bruising susceptibility Frontal bossing

Rare Symptoms - Less than 30% cases

Bone pain Dilatation Flexion contracture Soft skin Cutis laxa Abnormality of the clavicle Hip dysplasia Spondylolisthesis Intellectual disability Pectus excavatum Hoarse voice Obesity Low-set, posteriorly rotated ears Myopia Hearing impairment Dolichocephaly Chronic pain Low back pain Abnormal joint morphology Carious teeth Osteolysis Narrow palate Splenomegaly Hepatomegaly Apnea Recurrent respiratory infections Vomiting Brachydactyly Back pain Macrocephaly Fever Hydrocephalus Malar flattening Disproportionate short-limb short stature Proptosis Failure to thrive Microcephaly Seizures Skeletal dysplasia Premature loss of teeth Striae distensae Agenesis of permanent teeth Hepatosplenomegaly Aortic aneurysm Micromelia Pectus carinatum Aciduria Broad forehead Platyspondyly Growth delay Myopathy Dental crowding Mitral regurgitation Delayed gross motor development Talipes Scarring Protruding ear Joint stiffness Arthritis Myalgia Downslanted palpebral fissures Abnormality of the nail Wormian bones Brachycephaly Cognitive impairment Cerebral atrophy Long philtrum Fragile skin Triangular face Lactic acidosis Nevus Metabolic acidosis Lymphadenopathy Malabsorption Muscle weakness Retinal dystrophy Leukemia Progressive cerebellar ataxia Abnormality of vision Large fontanelles Underdeveloped nasal alae Normocytic anemia Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Extramedullary hematopoiesis Clumsiness Agenesis of cerebellar vermis Cholestatic liver disease Organic aciduria Nuclear cataract Severe failure to thrive Petechiae Leukocytosis Skin rash Abdominal pain Abnormality of the liver Abnormal pattern of respiration Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Persistence of primary teeth Small face Persistent open anterior fontanelle Ridged nail Osteolytic defects of the phalanges of the hand Osteopetrosis Abnormality of the vertebral column Prominent occiput Osteomyelitis Osteolytic defects of the distal phalanges of the hand Abnormal pelvis bone ossification Motor delay Delayed skeletal maturation Abnormality of the nervous system Elevated hepatic transaminase Hypoglycemia Acidosis Cerebral cortical atrophy Posteriorly rotated ears Elevated serum creatine phosphokinase Ataxia Thrombocytopenia Diarrhea Cerebellar atrophy Optic atrophy Low-set ears Cataract Nystagmus Fluctuating splenomegaly Patent ductus arteriosus Normocytic hypoplastic anemia Short phalanx of finger Short finger Proximal placement of thumb Overfolded helix Elbow dislocation Short long bone Abnormality of the metacarpal bones Abnormality of the outer ear Bowing of the long bones Hip contracture Abnormal form of the vertebral bodies Abnormality of the metaphysis Interphalangeal joint contracture of finger Abnormality of the ribs Limb undergrowth Cerebral calcification Full cheeks Abnormality of the foot Ulnar deviation of finger Overweight Camptodactyly of finger Spinal deformities Cystic lesions of the pinnae Costal cartilage calcification Laryngotracheal stenosis Glabellar hemangioma Hypoplastic cervical vertebrae Hitchhiker thumb Cervical kyphosis Ulnar deviation of the wrist Neonatal short-limb short stature Spinal cord compression Flattened epiphysis Visceral angiomatosis Ulnar deviation of the hand Lethal skeletal dysplasia Irregular epiphyses Symphalangism affecting the phalanges of the hand Large earlobe Thoracic dysplasia Arthrogryposis multiplex congenita Severe short stature Atrial septal defect Exotropia Dilatation of the cerebral artery Disproportionate tall stature Myopathic facies Ectopia lentis Arnold-Chiari malformation Bicuspid aortic valve Joint contracture of the hand Chest pain High anterior hairline Bifid uvula Postaxial polydactyly Abnormal cardiac septum morphology Retrognathia Polydactyly Pes cavus Abnormality of the thorax Syndactyly Aortic dissection Dermal translucency Pneumonia Spontaneous pneumothorax Abnormal heart morphology Abnormality of cardiovascular system morphology Respiratory insufficiency Intrauterine growth retardation Depressed nasal bridge Cryptorchidism Generalized arterial tortuosity Bicuspid pulmonary valve Descending thoracic aorta aneurysm Ascending tubular aorta aneurysm Pulmonary artery aneurysm Absent distal phalanges Ascending aortic dissection Mild myopia Protrusio acetabuli Dural ectasia Arterial tortuosity Thoracic aortic aneurysm Abnormality of dental morphology Prominent nose Abnormality of pelvic girdle bone morphology Corneal dystrophy Corneal erosion Sclerocornea Dentinogenesis imperfecta Megalocornea Keratoconus Hallux valgus Enuresis nocturna Shoulder dislocation Congenital hip dislocation Angulated humerus High myopia Microcornea Retinal detachment Hypertension Pulmonic stenosis Corneal scarring Flat cornea Neonatal hypotonia Autoimmunity Long palpebral fissure Gingival overgrowth Tall stature Thin skin Fine hair Microdontia Dislocated radial head Erythema Keratoglobus Recurrent infections Osteomalacia Vertebral compression fractures Enuresis Neoplasm Abnormality of hair pigmentation Decreased corneal thickness Hip dislocation Conductive hearing impairment Dermal atrophy Arthropathy Dark urine Nephrolithiasis Abnormality of the nose Hearing abnormality Ankylosis Joint swelling Irregular hyperpigmentation Aminoaciduria Mitral valve calcification Abnormal heart valve morphology Hyperparathyroidism Vertebral fusion Abnormality of the ear Atherosclerosis Reduced bone mineral density Abnormality of the urinary system Aortic valve calcification Intervertebral disc degeneration Abnormality of metabolism/homeostasis Ochronosis Glaucoma Visual loss Abnormality of the eye Gait disturbance Abnormality of skin pigmentation Sensorineural hearing impairment Myocardial infarction Pigmentation of the sclera Calcification of cartilage Tendonitis Intervertebral disk calcification Thickened Achilles tendon Tendon rupture Coronary artery calcification Prostatitis Cartilage destruction Vasculitis Urticaria Sleep apnea Rachitic rosary Phosphoethanolaminuria Elevated plasma pyrophosphate Elevated urine pyrophosphate Skin dimple over apex of long bone angulation Unossified vertebral bodies Low alkaline phosphatase Decreased calvarial ossification Prominent forehead Widely patent fontanelles and sutures Vertebral clefting Short lower limbs Skin dimples Metaphyseal cupping Hyperphosphatemia Bowing of the legs Generalized muscle weakness Telecanthus Abnormality of the voice Growth abnormality Abnormality of the fingernails Short toe Abnormal vertebral morphology Abnormality of the face Small nail Abnormality of the skin Growth hormone deficiency Hypoplasia of the maxilla High forehead Hypodontia Postural instability Delayed eruption of teeth Short distal phalanx of finger Narrow chest Hyperlordosis Narrow mouth Rickets Hypercalcemia Hypermelanotic macule Periodontitis Premature loss of permanent teeth Palmoplantar cutis laxa Cigarette-paper scars Poor wound healing Premature loss of primary teeth Mitral stenosis Generalized joint laxity Gingivitis Intestinal perforation Subarachnoid hemorrhage Gingival bleeding Decreased body weight Skin vesicle Long nose Atrophic scars Long eyelashes Gingival recession Severe periodontitis Intracranial hemorrhage Irritability Hypercalciuria Nephrocalcinosis Short ribs Adducted thumb Anorexia Patent foramen ovale Bilateral talipes equinovarus Polyhydramnios Atrophy of alveolar ridges Facial hypotonia Constipation Hypoplasia of the musculature Skeletal muscle atrophy Thin vermilion border Single transverse palmar crease Alveolar bone loss around teeth Hypertrophic auricular cartilage


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