Flexion contracture, and Proteinuria

Diseases related with Flexion contracture and Proteinuria

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

Top matches:

Low match MAJEED SYNDROME

Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.

MAJEED SYNDROME Is also known as chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET MENDELIAN

More info about MAJEED SYNDROME

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

Other less relevant matches:

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME Is also known as arc syndrome|arcs

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME

Low match COG7-CDG

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Top 5 symptoms//phenotypes associated to Flexion contracture and Proteinuria

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Proteinuria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Muscular hypotonia Micrognathia Arthrogryposis multiplex congenita Sensorineural hearing impairment Microcephaly Generalized hypotonia Hepatomegaly Ataxia Intrauterine growth retardation Abnormal heart morphology Growth delay Hepatosplenomegaly Cerebral atrophy Dehydration Anemia Barrel-shaped chest Hip dislocation Hypertension Renal insufficiency Osteopenia Delayed myelination Nephropathy Scoliosis Edema Splenomegaly Pectus excavatum Nystagmus

Rare Symptoms - Less than 30% cases

Atrial septal defect Sloping forehead Ichthyosis Talipes Cataract Abnormality of the liver Elevated hepatic transaminase Jaundice Hypoplasia of the corpus callosum Visual impairment Hyperreflexia Talipes equinovarus Cardiomyopathy Nephrotic syndrome High palate Low-set ears Skeletal dysplasia Coarse facial features Cholestasis Dysostosis multiplex Lissencephaly Thrombocytopenia Neoplasm Tremor Cerebellar atrophy Dementia Deeply set eye Thick vermilion border Abnormality of the nervous system Stage 5 chronic kidney disease Progressive cerebellar ataxia Brain atrophy Tubular atrophy Epicanthus Glomerulosclerosis Focal segmental glomerulosclerosis Short neck Spasticity Abnormality of the skeletal system Feeding difficulties Abnormal facial shape Bone marrow hypocellularity Hypertrophic cardiomyopathy Pectus carinatum Weight loss Corneal opacity Fever Papule Microalbuminuria Downturned corners of mouth Retinopathy Telecanthus Cachexia Renal tubular dysfunction Wide nasal bridge Arthralgia Congenital nephrotic syndrome Aplasia/Hypoplasia of the patella Cervical ribs Cleft upper lip Albuminuria Absent distal interphalangeal creases Antecubital pterygium Deep-set nails Recurrent respiratory infections Patent ductus arteriosus Microphakia Prominent forehead Synophrys Respiratory tract infection Concave nail Joint contracture of the hand Patellar aplasia Thickened skin Ridged nail Long eyelashes Abnormal lung morphology Cerebral calcification Abnormal pyramidal sign Patellar hypoplasia Macroglossia Hepatic steatosis Wide nose Hirsutism Abnormality of the foot Hypoplasia of first ribs Hypoplastic radial head Glenoid fossa hypoplasia Syringomyelia Neurodegeneration Lester's sign Ascites Waddling gait Progressive visual loss Cardiomegaly Choreoathetosis Hydrops fetalis Laryngomalacia Slurred speech Hyperactive deep tendon reflexes Absence of pectoralis minor muscle Elongated radius Epiphyseal stippling Hand tremor Iliac horns Increased urinary O-linked sialopeptides Respiratory distress Optic atrophy Thickening of the lateral border of the scapula Stellate iris Quadriceps aplasia Urinary excretion of sialylated oligosaccharides Bone-marrow foam cells Thoracic kyphosis Disproportionate prominence of the femoral medial condyle Cherry red spot of the macula Facial edema Triceps aplasia Vacuolated lymphocytes Foam cells Tubulointerstitial nephritis Beaking of vertebral bodies Coarse hair Oral cleft Hypoalbuminemia Hypocalcemia Leukodystrophy Postnatal microcephaly Pachygyria Coarctation of aorta Hematuria Cortical gyral simplification Microcornea Nail dysplasia Lumbar hyperlordosis Recurrent urinary tract infections Renal dysplasia Falls Hypoplastic left heart Corpus callosum atrophy Spina bifida Glaucoma Paresthesia Confusion Nail dystrophy Abnormality of the kidney Cleft lip Pes planus Osteoporosis Hand clenching Clinodactyly of the 5th finger Ptosis Pain Cleft palate Hypertensive crisis Diffuse mesangial sclerosis Narrow forehead Aortic regurgitation Raynaud phenomenon Flared iliac wings Limited elbow extension Hypoplastic acetabulae Obstructive lung disease J-shaped sella turcica Macrovesicular hepatic steatosis Acetabular dysplasia Large forehead Strabismus Colon cancer Keratoconus Renal cell carcinoma Patellar dislocation Abnormality of the elbow Blue irides Hypertelorism Cryptorchidism Abnormality of the urinary system Narrow mouth Pterygium Convex nasal ridge Glomerulonephritis Arachnodactyly Coloboma Camptodactyly Nephritis Delayed speech and language development Cerebellar hypoplasia Midface retrusion Anonychia Microphthalmia Anteverted nares Ventriculomegaly Downslanted palpebral fissures Oligohydramnios Erythema Dysmetria Polyhydramnios Limitation of joint mobility Triangular face Hypoplasia of the maxilla Pulmonic stenosis Camptodactyly of finger Arthritis Proptosis Interphalangeal joint contracture of finger Pes cavus Gait disturbance Reduced pancreatic beta cells Contractures of the joints of the lower limbs Neonatal insulin-dependent diabetes mellitus Pancreatic hypoplasia Hypotelorism Abnormality of epiphysis morphology Abnormality of the upper urinary tract Azotemia Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Doll-like facies Ankle swelling Hypertensive retinopathy Ulnar deviation of the hand or of fingers of the hand EMG abnormality Ulnar deviation of the hand Juvenile rheumatoid arthritis Abnormality of the wrist Slender long bone Rheumatoid arthritis Elevated alkaline phosphatase Osteolysis Hypovolemia Autoimmune antibody positivity Osteolysis involving tarsal bones Increased susceptibility to fractures Pulmonary infiltrates Pustule Glomerulopathy Leukocytosis Acne Metaphyseal irregularity Increased bone mineral density Hypochromic microcytic anemia Bone pain Inflammatory abnormality of the skin Malabsorption Cough Myalgia Headache Microscopic hematuria Synovitis Ketonuria Generalized myoclonic seizures Prominent metopic ridge Glycosuria Neurodevelopmental delay Hyperglycemia Bilateral ptosis Apraxia Coma Congenital hypoplastic anemia Peripheral axonal neuropathy Generalized tonic-clonic seizures Intellectual disability, severe Motor delay Abnormal inflammatory response Chronic recurrent multifocal osteomyelitis Abnormality of bone marrow cell morphology Wrist swelling Ventricular septal defect Abnormality of movement Muscle cramps Cafe-au-lait spot Decreased body weight Cutaneous photosensitivity Microdontia Prominent nose Chorea Astigmatism Freckling Attention deficit hyperactivity disorder Photophobia Hyperactivity Mild proteinuria Abnormal glycosylation Areflexia of lower limbs Neoplasm of the skin Verrucae Distal arthrogryposis Kyphosis Mental deterioration Dyspnea Myoclonus Inguinal hernia Visual loss Hernia Blindness Morphological abnormality of the central nervous system Skeletal muscle atrophy Peripheral neuropathy Muscle weakness Numerous pigmented freckles Seborrheic keratosis Cholangiocarcinoma Defective DNA repair after ultraviolet radiation damage Premature skin wrinkling Inverted nipples Hyperkeratosis Congenital hip dislocation Severe failure to thrive Renal tubular acidosis Diabetes insipidus Aminoaciduria Hyperbilirubinemia Nephrocalcinosis Ventricular hypertrophy Conjugated hyperbilirubinemia Epistaxis Hip dysplasia Abnormal bleeding Single transverse palmar crease Metabolic acidosis Pruritus Acidosis Right ventricular hypertrophy Cholestatic liver disease Protruding tongue Recurrent infections Abnormality of immune system physiology Adducted thumb Polyneuropathy Flat face Abnormality of the pinna Areflexia Behavioral abnormality Lichenification Congestive heart failure Diarrhea Respiratory insufficiency Talipes calcaneovalgus Giant cell hepatitis Nephrogenic diabetes insipidus Generalized aminoaciduria Biceps aplasia


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