Edema, and Kyphoscoliosis

Diseases related with Edema and Kyphoscoliosis

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


Top matches:

Low match PEHO-LIKE SYNDROME


PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

Low match PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD


Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.

PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD Is also known as progressive pseudorheumatoid arthropathy of childhood|ppd|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|sedt-pa|spondyloepiphyseal dysplasia tarda with progressive arthropathy|progressive pseudorheumatoid dysplasia

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD

Low match PARASTREMMATIC DWARFISM


Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

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Other less relevant matches:

Low match CAFFEY DISEASE


Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.

CAFFEY DISEASE Is also known as infantile cortical hyperostosis

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Fever
  • Abnormality of the skeletal system


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAFFEY DISEASE

Low match ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME


Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

Low match HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY


Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

Low match NEVUS OF ITO


Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Low match MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1


Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Low match CONGENITAL MUSCULAR DYSTROPHY TYPE 1A


Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Low match BRANCHIOSKELETOGENITAL SYNDROME


Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.

BRANCHIOSKELETOGENITAL SYNDROME Is also known as hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|elsahy-waters syndrome|brachioskeletogenital syndrome|bsg syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRANCHIOSKELETOGENITAL SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Kyphoscoliosis

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Edema and Kyphoscoliosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Proptosis Pectus carinatum Midface retrusion Dilatation High palate Strabismus Respiratory insufficiency Osteoporosis Pectus excavatum Severe short stature Fever Delayed eruption of teeth Kyphosis Muscle weakness Alopecia Microcephaly Generalized hypotonia Hypertelorism

Rare Symptoms - Less than 30% cases


Hyperkeratosis Facial asymmetry Microphthalmia Hearing impairment Abnormal facial shape Hyperostosis Carious teeth Feeding difficulties in infancy Behavioral abnormality Abnormality of the skeletal system Thoracolumbar scoliosis Thoracic kyphosis Cachexia Malabsorption Nail dystrophy Sparse hair Hypoplasia of the maxilla Scarring Abnormality of the dentition Downslanted palpebral fissures Malar flattening Arrhythmia Elevated serum creatine phosphokinase Hyperlordosis Muscular dystrophy Keratitis Lymphedema Global developmental delay Recurrent infections Myopathic facies Thin vermilion border Cataract Cerebral edema Aspiration Hypopigmentation of the skin Retinal detachment Stroke Glaucoma Intellectual disability, moderate Failure to thrive Fine hair Brachydactyly Short neck Cryptorchidism Rheumatoid arthritis Cerebellar hypoplasia Gait disturbance Pain Retrognathia Polymicrogyria Arthritis Hypertonia Ventriculomegaly Optic atrophy Narrow forehead Neonatal hypotonia Pachygyria Open mouth Epicanthus Spasticity Platyspondyly Motor delay Respiratory arrest Cognitive impairment Low hanging columella Hyperphosphatemia Breech presentation Mixed respiratory and metabolic acidosis Muscular hypotonia Sinus tachycardia Long upper lip Congenital ptosis Skeletal muscle atrophy Severe lactic acidosis Diaphragmatic eventration Wide intermamillary distance Dysphagia Gastroesophageal reflux Abnormality of the cerebral white matter Hip dislocation Paralysis Submucous cleft soft palate Facial palsy Attached earlobe Absent external genitalia Dentinogenesis imperfecta limited to primary teeth Respiratory distress Respiratory failure Abnormality of the sella turcica Blepharochalasis Areflexia Abnormality of metabolism/homeostasis Rootless teeth Intellectual disability, severe Cardiomyopathy Malignant hyperthermia Abnormality of the sternum Myoglobinuria Proximal muscle weakness Metabolic acidosis Joint hypermobility Tachycardia Lactic acidosis Upper limb peromelia Limb muscle weakness Arthrogryposis multiplex congenita Myalgia Rigidity Lagopthalmos Acidosis Hyperhidrosis Pes cavus Advanced pneumatization of the mastoid process Renal insufficiency Myopathy Low-set ears Ptosis Muscle cramps Abnormal bleeding Scaphocephaly Abnormality of the shape of the midface Acute kidney injury Rhabdomyolysis Inability to walk Hyperkalemia Unilateral cleft palate Abnormality of the vertebral spinous processes Abnormality of dentin Abnormality of the coagulation cascade Ventricular fibrillation Webbed neck Myotonia Deep philtrum Ventricular arrhythmia Tachypnea Shock Lumbar hyperlordosis Decreased fetal movement Hypotension Ophthalmoplegia Pulmonary arterial hypertension Macroglossia Anteverted nares Mandibular prognathia Micropenis Brachycephaly Thickened calvaria Anteriorly placed anus Posteriorly rotated ears Hypospadias Syndactyly Wide nasal bridge Umbilical hernia Submucous cleft hard palate Premature loss of teeth Megalocornea Eyelid coloboma Depressed nasal bridge Large earlobe Highly elevated creatine phosphokinase Concave nasal ridge Absent muscle fiber merosin High forehead Thin upper lip vermilion Abnormal brainstem MRI signal intensity Pointed chin Bifid uvula Broad nasal tip Highly arched eyebrow Thick vermilion border Downturned corners of mouth Wide nose Thick eyebrow Flat face Cutaneous syndactyly Telecanthus Synophrys Broad forehead Bifid scrotum Short philtrum Coloboma Mixed hearing impairment Craniosynostosis Abnormality of the vertebral column Low-set, posteriorly rotated ears Cleft soft palate Intercostal muscle weakness Focal-onset seizure Poor suck Hypokinesia Thoracolumbar kyphoscoliosis Multiple impacted teeth Congenital muscular dystrophy Phthisis bulbi Limb-girdle muscular dystrophy Focal impaired awareness seizure Periorbital wrinkles Respiratory insufficiency due to muscle weakness Protruding tongue Lissencephaly Absence seizures Congenital hip dislocation Sensorimotor neuropathy Progressive muscle weakness Decreased body weight Heterotopia Dental malocclusion Bradykinesia Weak cry Penoscrotal hypospadias Abnormality of the temporomandibular joint Astrocytosis Absent nipple Hypointensity of cerebral white matter on MRI Inferior vermis hypoplasia Increased endomysial connective tissue Impaired mastication Pontocerebellar atrophy Diffuse white matter abnormalities Muscle fiber atrophy Increased connective tissue Prominent nasal tip Abnormality of the periventricular white matter Reduced ejection fraction Abnormal cortical gyration Myositis Recurrent lower respiratory tract infections Abnormality of the cervical spine Abnormality of visual evoked potentials Hypoventilation Bladder exstrophy Ureteral stenosis Atelectasis Pallor Atrophic, patchy alopecia Bowing of the long bones Peripheral edema Stiff neck Mucopolysacchariduria Protein-losing enteropathy Scleroderma Malnutrition Abnormal intestine morphology Chronic diarrhea Postural instability Hernia Nausea Genu valgum Nausea and vomiting Hypothyroidism Abdominal pain Diarrhea Vomiting Enlarged metacarpophalangeal joints Morbus Scheuermann Intestinal polyp Polyhydramnios Enlarged interphalangeal joints Thoracic dysplasia Sensorineural hearing impairment Micrognathia Cortical irregularity Periosteal thickening of long tubular bones Hyperesthesia Cortical thickening of long bone diaphyses Anasarca Calvarial hyperostosis Thrombocytosis Irritability Restlessness Cellulitis Tibial bowing Increased antibody level in blood Leukocytosis Bowing of the legs Disproportionate short-limb short stature Hydrops fetalis Short palm Enlargement of the proximal femoral epiphysis Decreased cervical spine mobility Osteopenia Sloping forehead Skeletal dysplasia Infantile encephalopathy Central hypotonia Severe muscular hypotonia Progressive microcephaly Status epilepticus Intellectual disability, profound Hypsarrhythmia Brain atrophy Difficulty walking Full cheeks Tapered finger Myoclonus Encephalopathy Absent speech Short nose Cerebellar atrophy Hypoplasia of the corpus callosum Hyperreflexia Arthralgia Camptodactyly Sclerotic vertebral endplates Spondyloepiphyseal dysplasia Enlarged epiphyses Methylmalonic acidemia Flattened epiphysis Synovitis Abnormality of the knee Juvenile rheumatoid arthritis Joint swelling Arthropathy Metaphyseal widening Joint stiffness Genu varum Short long bone Coxa vara Abnormal form of the vertebral bodies Osteoarthritis Interphalangeal joint contracture of finger Waddling gait Abnormality of the foot Camptodactyly of finger Delayed skeletal maturation Prominent nasal bridge Retinal vascular proliferation Papule Hyperpigmentation of the skin Abnormal blistering of the skin Nail dysplasia Ectodermal dysplasia Nevus Tetraplegia Hypodontia Abnormality of skin pigmentation Skin rash Hemivertebrae Erythema Visual loss Immunodeficiency Visual impairment Neoplasm Hypermethioninemia Personality disorder Biconcave vertebral bodies Homocystinuria Increased bone mineral density Eosinophilia Generalized osteoporosis Generalized osteosclerosis Hyperpigmented streaks Nail pits Retinal hemorrhage Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Supernumerary ribs Breast aplasia Breast hypoplasia Thick nail Coarse hair Ridged nail Conical tooth Anodontia Hypoplasia of the fovea Abnormality of the vasculature Pustule Uveitis Hypoplastic nipples Supernumerary nipple Precocious atherosclerosis Peripheral arterial stenosis Hypermetropia Long nose Increased thyroid-stimulating hormone level Osteolytic defects of the phalanges of the hand Shallow orbits Narrow nose Striae distensae Prematurely aged appearance Slender long bone Lipoatrophy Delayed cranial suture closure Thin calvarium Flat occiput Pterygium Dermal atrophy Growth abnormality Wormian bones Thin skin Hypotelorism Abnormality of the skin Recurrent fractures Narrow philtrum Myopia Transient ischemic attack Atherosclerosis Pulmonary embolism Thromboembolism Disproportionate tall stature Cutis marmorata Obsessive-compulsive behavior Ectopia lentis Brittle hair Schizophrenia Pancreatitis Depressivity Tall stature Dental crowding Myocardial infarction Mitral valve prolapse Limitation of joint mobility Hepatic steatosis Arachnodactyly Aggressive behavior Inguinal hernia Amelia involving the lower limbs



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