Edema, and Hip dysplasia

Diseases related with Edema and Hip dysplasia

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

Top matches:

CDA type I is a rare inherited red blood cell disorder characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis (Tamary et al., 2005). Striking morphologic abnormalities of erythroblasts, reviewed by Wickramasinghe and Wood (2005), include the 'Swiss-cheese' abnormality of erythroblasts on electron microscopy.Four types of CDA, all of which show show ineffective erythropoiesis and multinuclear erythroblasts, have been characterized by clinical and hematopoietic findings. The classification of the first 3 types is based on that described by Wendt and Heimpel (1967). Type I is characterized by megaloblastic changes. The more common type II (OMIM ) is characterized by normocytic binuclear or multinuclear red cells, which on electron microscopy contain double cytoplasmic membranes. Type III (OMIM ), which shows autosomal dominant inheritance, has prominent erythroblastic multinuclearity forming 'gigantoblasts' with up to 12 nuclei. Type IV (OMIM ) is the designation given to a form of CDA with characteristics different from those of types I, II, and III (Wickramasinghe et al., 1991; Arnaud et al., 2010). Genetic Heterogeneity of Congenital Dyserythropoietic AnemiaCDAN1B (OMIM ) is caused by mutation in the C15ORF41 gene (OMIM ) on chromosome 15q14; CDAN2 (OMIM ) is caused by mutation in the SEC23B gene (OMIM ) on chromosome 20p11; CDAN3 (OMIM ) maps to chromosome 15q21; and CDAN4 (OMIM ) is caused by mutation in the KLF1 gene (OMIM ) on chromosome 19p13.For a possible additional form of CDA type I, see {603529}.

ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A Is also known as dyserythropoietic anemia, congenital, type ia|cda ia|anemia, congenital dyserythropoietic, type i

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IA; CDAN1A

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

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

Other less relevant matches:

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.

EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE Is also known as ehlers-danlos syndrome, type vii, autosomal recessive|eds7c|dermatosparaxis|ehlers-danlos syndrome type 7c|eds viic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-h√únermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

MUCOLIPIDOSIS TYPE II Is also known as i-cell disease|ml ii|mucolipidosis ii|n-acetylglucosamine 1-phosphotransferase deficiency|mucolipidosis type ii alpha/beta|ml ii alpha/beta|icd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUCOLIPIDOSIS TYPE II

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Hip dysplasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hip dislocation Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Umbilical hernia Depressed nasal bridge Epicanthus Hernia Hearing impairment Scoliosis Splenomegaly Short neck Intellectual disability Generalized hypotonia Growth delay Muscular hypotonia Talipes equinovarus Glaucoma Hepatosplenomegaly Joint stiffness Sensorineural hearing impairment Global developmental delay Cardiomyopathy Macrocephaly Abnormality of the skeletal system Kyphosis Flexion contracture Osteopenia Hyperkeratosis Long philtrum Atrial septal defect Abnormal heart valve morphology Opacification of the corneal stroma Anteverted nares Micrognathia Hypoplasia of the odontoid process Microcephaly Dysostosis multiplex Talipes Macroglossia Motor delay Abnormality of the thorax Hepatomegaly Coarse facial features Postnatal growth retardation Downslanted palpebral fissures Ptosis Gastroesophageal reflux Joint laxity Hirsutism Congenital hip dislocation Gingival overgrowth Severe short stature Polyhydramnios Hydrops fetalis Myopia Bruising susceptibility Joint hypermobility Microcornea High palate Pectus excavatum Ventricular septal defect

Rare Symptoms - Less than 30% cases

Wide intermamillary distance Jaundice Clinodactyly of the 5th finger Low posterior hairline Kyphoscoliosis Skeletal dysplasia Abnormality of the nervous system Joint dislocation Intellectual disability, moderate Highly arched eyebrow Hypertrichosis Sparse hair Thin skin Palpebral edema Limb undergrowth Premature birth Esotropia Thick vermilion border Cleft palate Short palm Sparse and thin eyebrow Feeding difficulties in infancy Gait disturbance Abnormality of the dentition Low-set, posteriorly rotated ears Severe postnatal growth retardation Ascites Frontal bossing Abnormal vertebral morphology Thickened skin Split hand Recurrent upper respiratory tract infections Lumbar hyperlordosis Spastic tetraplegia Metaphyseal widening Tetraplegia Genu valgum Corneal opacity Proximal placement of thumb Cholelithiasis Thoracic kyphosis Intellectual disability, severe Hydrocephalus Optic atrophy Respiratory distress Webbed neck Ovoid vertebral bodies Seizures Broad ribs Flared iliac wings Myelopathy Prominent sternum Dermatan sulfate excretion in urine Bilateral single transverse palmar creases Generalized hirsutism Nystagmus Cataract High forehead Macrotia Micromelia Osteoporosis Respiratory tract infection Ichthyosis Neonatal hypotonia Hypertelorism Ventriculomegaly Hypertonia Short nose Pulmonic stenosis Joint hyperflexibility Low-set ears Hypertrophic cardiomyopathy Pectus carinatum Epistaxis Pleural effusion Corneal erosion Soft skin Megalocornea Widely spaced teeth Thick eyebrow Hyperextensible skin Corneal dystrophy Cutis laxa Abnormality of epiphysis morphology Abnormal bleeding Cognitive impairment Aortic valve stenosis Abnormality of cardiovascular system morphology Cryptorchidism Hypertension Blue sclerae Strabismus Conductive hearing impairment Delayed speech and language development Failure to thrive in infancy Spinal cord compression Hyperactive deep tendon reflexes Bilateral ptosis Mild short stature Cubitus valgus Metatarsus adductus Spondyloepiphyseal dysplasia Feeding difficulties Short attention span Posteriorly rotated ears Facial hypotonia Broad forehead Pterygium Poor suck Decreased muscle mass Hydrocele testis Neurodevelopmental delay Myopathy Cardiac arrest Abnormal eyebrow morphology Anemia Broad-based gait Thrombocytopenia Overfolded helix Falls Heparan sulfate excretion in urine Mitral regurgitation Triangular face Snoring Narrow greater sacrosciatic notches J-shaped sella turcica Lymphoma Astigmatism Thoracic kyphoscoliosis Acetabular dysplasia Thoracolumbar kyphosis Cyanosis Pseudoarthrosis Anterior beaking of lumbar vertebrae Decreased pulmonary function Fine hair Hyperpigmentation of the skin Deep philtrum Cafe-au-lait spot Pulmonary insufficiency Prominent forehead Abnormality of the foot Proximal tapering of metacarpals Recurrent ear infections Anterior beaking of lower thoracic vertebrae Nonimmune hydrops fetalis Lymphedema Hypermetropia Vasculitis Thoracolumbar scoliosis Torticollis Bicuspid aortic valve Leukemia High myopia B-cell lymphoma Anxiety Delayed eruption of teeth Sleep disturbance Short foot Small hand Downturned corners of mouth Thin vermilion border Delayed puberty Synophrys Toe syndactyly Neurological speech impairment Attention deficit hyperactivity disorder Autism Intestinal malrotation Cerebral cortical atrophy Brachycephaly Delayed skeletal maturation Hypospadias Renal insufficiency Intrauterine growth retardation Peripheral neuropathy Lower thoracic interpediculate narrowness Beaking of vertebral bodies T12-L3 Varus deformity of humeral neck Progressive alveolar ridge hypertropy Vesicoureteral reflux Hypoplasia of penis Deficiency of N-acetylglucosamine-1-phosphotransferase Hypoplastic nipples Prenatal movement abnormality Phthisis bulbi Curly eyelashes Increased nuchal translucency Volvulus Abnormality of the uterus Short 1st metacarpal Abnormality of the ulna Hypoplastic labia majora Blepharitis Oligodactyly Truncal obesity Congenital diaphragmatic hernia Cutis marmorata Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Elbow dislocation Radioulnar synostosis Pyloric stenosis Atresia of the external auditory canal Multicystic kidney dysplasia Low anterior hairline Long eyelashes Choanal atresia Primary amenorrhea Bullet-shaped phalanges of the hand Increased serum iduronate sulfatase activity Abnormality of the spleen Reduced factor X activity Narrow forehead Brain atrophy Retinal degeneration Severe global developmental delay Weight loss Recurrent respiratory infections Pneumonia Congestive heart failure Blindness Ataxia Abnormality of the subarachnoid space Juvenile myelomonocytic leukemia Recurrent otitis media Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Cardiomegaly Hoarse voice Increased serum beta-hexosaminidase Hypoplastic scapulae Urinary glycosaminoglycan excretion Thoracolumbar kyphoscoliosis Atlantoaxial dislocation Large sella turcica Broad alveolar ridges Cavernous hemangioma Mucopolysacchariduria Abnormality of nervous system morphology Carpal bone hypoplasia Abnormality of the rib cage Lack of skin elasticity Recurrent bronchitis Recurrent pneumonia Flat acetabular roof Diastasis recti Radial bowing Protuberant abdomen Thickened calvaria Vertebral fusion Pathologic fracture Pericardial effusion Flared metaphysis Heart murmur Short long bone Aortic regurgitation Reduced prothrombin activity Patellar dislocation Neurodegeneration Large fontanelles Intracranial hemorrhage Redundant skin Mutism Coxa vara Coxa valga Short toe Wide anterior fontanel Macrocytic dyserythropoietic anemia Short phalanx of finger Microdontia Epiphora Sepsis Hypodontia Everted lower lip vermilion Scarring Wide mouth Retrognathia Vomiting Wide nasal bridge Visual loss Rickets Open bite Talipes calcaneovalgus Generalized edema Gingival hyperkeratosis Enlarged naris Blepharochalasis Soft, doughy skin Premature rupture of membranes Excessive wrinkled skin Femoral hernia Avascular necrosis of the capital femoral epiphysis Delayed closure of the anterior fontanelle Echolalia Dysphasia Esophagitis Hiatus hernia Gingival bleeding Osteomalacia Abnormal joint morphology Fragile skin Prolonged bleeding time Delayed cranial suture closure Aphasia Pes planus Giant cell hepatitis Abnormality of subcutaneous fat tissue Abnormality of hair pigmentation Proteinuria Elevated hepatic transaminase Myalgia Acidosis Camptodactyly Hypoplasia of the corpus callosum Arachnodactyly Retinal detachment Recurrent fractures Decreased corneal thickness Pruritus Keratoglobus Flat cornea Shoulder dislocation Corneal scarring Sclerocornea Keratoconus Hallux valgus Increased susceptibility to fractures Mitral valve prolapse Abnormality of the liver Arthrogryposis multiplex congenita Nephrogenic diabetes insipidus Diabetes insipidus Generalized aminoaciduria Lichenification Cholestatic liver disease Conjugated hyperbilirubinemia Barrel-shaped chest Right ventricular hypertrophy Renal tubular dysfunction Severe failure to thrive Renal tubular acidosis Lissencephaly Nephropathy Aminoaciduria Hyperbilirubinemia Nephrocalcinosis Cholestasis Ventricular hypertrophy Sloping forehead Dehydration Single transverse palmar crease Metabolic acidosis Spontaneous neonatal pneumothorax Frontal open bite Vertigo Erythroderma Abnormality of hair texture Dry hair Concave nasal ridge Tracheal stenosis Foot polydactyly Epiphyseal stippling Congenital ichthyosiform erythroderma Aplasia/Hypoplasia of the skin Bilateral talipes equinovarus Scaling skin Scarring alopecia of scalp Coarse hair Abnormality of pelvic girdle bone morphology Sparse eyelashes Abnormality of the fingernails Hemivertebrae Rhizomelia Dandy-Walker malformation Postaxial polydactyly Flat face Butterfly vertebrae Hemiatrophy Abnormality of the pinna Dilatation Facial asymmetry Poor speech Platyspondyly Hyperlordosis Muscular hypotonia of the trunk Dyspnea Mandibular prognathia Arrhythmia Recurrent infections Intellectual disability, mild Patchy alopecia Spasticity Stippled calcification in carpal bones Tarsal stippling Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Punctate vertebral calcifications Tracheal calcification Hyperkeratosis with erythema Vertebral wedging Erythema Syndactyly Recurrent mandibular subluxations Apnea Accelerated skeletal maturation Macrocytic anemia Decreased body weight Progressive neurologic deterioration Tetraparesis Waddling gait Reticulocytosis Dolichocephaly Retinopathy Increased serum ferritin Sleep apnea Hypothyroidism Anisocytosis Anemia of inadequate production Poikilocytosis Erythroid hyperplasia Mild postnatal growth retardation Endopolyploidy on chromosome studies of bone marrow Reduced activity of N-acetylglucosaminyltransferase II Abnormality of primary molar morphology Spastic tetraparesis Epiphyseal dysplasia Hydronephrosis Hypoplastic acetabulae Polydactyly Alopecia Depressivity Midface retrusion Microphthalmia Malar flattening Small nail Anterior wedging of L2 Anterior wedging of L1 Cervical cord compression Metaphyseal irregularity Cervical instability Cervical myelopathy Retinal fold Constrictive median neuropathy Disproportionate short-trunk short stature Hypoplastic iliac wing Obstructive sleep apnea Aseptic necrosis Spinal canal stenosis Prolonged neonatal jaundice Abnormally low-pitched voice


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