Flexion contracture, and Sinusitis

Diseases related with Flexion contracture and Sinusitis

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


Top matches:

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3


Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Fever
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3

Low match ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE


ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Low match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

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Other less relevant matches:

Low match ROIFMAN SYNDROME


Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Low match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Low match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Low match FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION


Congenital nasolacrimal drainage system impatency is relatively common, occurring in approximately 20% of children within the first year of life. Such infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway such as conjunctivitis. The most frequent site of such obstruction occurs at the distal intranasal segment of the nasolacrimal drainage system at the valve of Hasner (summary by Wang and Cunningham, 2011).Congenital dacryocystocele, an uncommon variant of nasolacrimal duct obstruction, characterized by the appearance of a cystic blue mass over the area of the lacrimal duct soon after birth. Dacryocystoceles are thought to result from a persistent membrane at the valve of Hasner and a functional obstruction of the common canaliculus or valve of Rosenmuller. The resulting lacrimal sac distention has been reported to be more common in female and non-Hispanic white patients, and familial cases have been described only sporadically. Common presenting signs include dacryocystitis, facial cellulitis, and respiratory distress; the development of astigmatism in association with dacryocystocele has only rarely been observed (summary by Shekunov et al., 2010).

FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION Is also known as nasolacrimal duct obstruction|lacrimal puncta, absence of

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Respiratory distress
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL CONGENITAL NASOLACRIMAL DUCT OBSTRUCTION

Low match USHER SYNDROME TYPE 1


Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

USHER SYNDROME TYPE 1 Is also known as ush1|retinitis pigmentosa and congenital deafness|us1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about USHER SYNDROME TYPE 1

Low match WHIM SYNDROME


WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WHIM SYNDROME

Low match AUTOSOMAL AGAMMAGLOBULINEMIA


Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

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

Symptoms // Phenotype % cases
Pneumonia Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Bronchiectasis Conjunctivitis Hypertelorism Recurrent pneumonia Meningitis Global developmental delay Hearing impairment Anxiety Short stature Ventricular septal defect Chronic sinusitis Otitis media Recurrent respiratory infections Recurrent otitis media Depressivity Microcephaly Cellulitis Decreased antibody level in blood Seizures Respiratory tract infection Generalized hypotonia Arthritis Fever

Rare Symptoms - Less than 30% cases


Neoplasm Autistic behavior Anemia Respiratory distress Abnormality of dental enamel Low-set ears Toe syndactyly Muscular hypotonia Depressed nasal bridge Microdontia Inflammatory abnormality of the skin Ataxia Sepsis Cognitive impairment Thin upper lip vermilion Gait disturbance Hypoplasia of the maxilla Gastroesophageal reflux Lymphadenopathy Spasticity 2-3 toe syndactyly Bronchitis Autism Scoliosis Spondyloepiphyseal dysplasia Constipation Short metacarpal Carcinoma Premature birth Skin rash Carious teeth Neutropenia Erythema Recurrent bacterial infections B-cell lymphoma Growth delay Dysphagia Hepatitis Combined immunodeficiency Cleft palate Pain Feeding difficulties Wide nasal bridge Recurrent urinary tract infections Abnormality of the dentition Syndactyly Hypospadias Patent ductus arteriosus Brachydactyly Lymphoma Elevated hepatic transaminase Lymphopenia Respiratory failure Osteomyelitis Vomiting Lacrimal duct atresia Verrucae Hepatosplenomegaly Fatigue Downslanted palpebral fissures Cardiomegaly Scarring Telangiectasia of the skin Multiple cafe-au-lait spots Apraxia Polycystic ovaries Type II diabetes mellitus Oculomotor apraxia Slurred speech Spinal muscular atrophy Breast carcinoma Athetosis Glucose intolerance Premature graying of hair Cerebral palsy Reduced tendon reflexes Truncal ataxia Pancytopenia Resting tremor Abnormality of the hair Aplasia/Hypoplasia of the skin Cafe-au-lait spot Limb ataxia Telangiectasia Choreoathetosis Intention tremor Abnormal vertebral morphology Dystonia Chorea Short femur Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Radial bowing Club-shaped proximal femur Bell-shaped thorax Loss of speech Short humerus Atonic seizures Progressive spasticity Tibial bowing Flat occiput Clubbing Oral-pharyngeal dysphagia Elbow dislocation Thoracic platyspondyly Multinucleated giant chondrocytes in epiphyseal cartilage Progressive cerebellar ataxia Abnormality of the liver Abnormal cerebellum morphology Polyneuropathy Distal amyotrophy Unsteady gait Abnormality of movement Abnormality of eye movement Delayed puberty Neurological speech impairment Leukemia Distal muscle weakness Difficulty walking Distal tapering femur Gait ataxia Diabetes mellitus Myoclonus Cerebellar atrophy Tremor Skeletal muscle atrophy Dysarthria Peripheral neuropathy Muscle weakness Strabismus Nystagmus Abnormality of the immune system Chronic hepatitis Myeloid leukemia Iris hypopigmentation Recurrent upper respiratory tract infections Congestive heart failure Absent vestibular function Abnormal cochlea morphology Vestibular hypofunction Subcortical cerebral atrophy Hemianopia Tapetoretinal degeneration Undetectable electroretinogram Peripheral visual field loss Severe hearing impairment IgG deficiency High hypermetropia Scotoma Decreased fertility Vestibular dysfunction Aplasia/Hypoplasia of the cerebellum Abnormal electroretinogram Schizophrenia Mutism Progressive hearing impairment Hallucinations Clumsiness Leukocytosis Periodontitis Progressive visual loss Cough Crohn's disease B lymphocytopenia Agammaglobulinemia External ear malformation Recurrent sinusitis Chronic otitis media Encephalitis Recurrent skin infections Chronic diarrhea Dehydration Malabsorption Diarrhea Atelectasis Epicanthus High palate Myelokathexis Bone marrow hypercellularity Hypersegmentation of neutrophil nuclei Tonsillitis Septic arthritis Folliculitis Abnormality of bone marrow cell morphology Abnormality of female external genitalia Abnormality of female internal genitalia Psychosis Nyctalopia Prematurely aged appearance Spinocerebellar tract degeneration Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Conjunctival telangiectasia Abnormality of chromosome stability Cellular immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Lymphoproliferative disorder Hyperkinesis Abnormality of the testis Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Severe combined immunodeficiency Acute lymphoblastic leukemia Hepatocellular carcinoma Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Decreased proportion of CD4-positive T cells Female hypogonadism Abnormality of the eye Periorbital edema Cerebral cortical atrophy Rod-cone dystrophy Visual loss Blindness Motor delay Cataract Sensorineural hearing impairment Dacryocystocele Dacryocystitis Rhinorrhea Nasolacrimal duct obstruction Nasal obstruction Increased sensitivity to ionizing radiation Epiphora Astigmatism Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Short metatarsal Short neck Disproportionate short-limb short stature Conical tooth Bilateral choanal atresia Patchy alopecia Oval face Hyperconvex nail Ankyloblepharon Orthokeratosis Plantar hyperkeratosis Skin erosion Selective tooth agenesis Pili torti Fibrous syngnathia Heat intolerance Trismus Absent eyelashes Blepharitis Pustule Ectrodactyly Keratoconjunctivitis sicca Sparse body hair Agenesis of permanent teeth Supernumerary nipple 3-4 toe syndactyly Vaginal dryness Anhidrosis Abnormal cardiac septum morphology Abnormality of the face Pulmonary arterial hypertension Tetralogy of Fallot Esotropia Round face Syncope Sudden cardiac death Coma Joint hypermobility Hip dislocation Hypertrophic cardiomyopathy Otitis externa Hypoglycemia Hypothyroidism Prominent forehead Abnormal heart morphology Arrhythmia Encephalopathy Abnormality of cardiovascular system morphology Behavioral abnormality Myopathy Myopia Anonychia Hammertoe Bradycardia Calcinosis Micropenis Hyperkeratosis Alopecia Bronchiolitis obliterans organizing pneumonia Finger swelling Bronchiolitis obliterans Panniculitis Hypochromic anemia Bronchiolitis Myositis Conductive hearing impairment Microcytic anemia Hypermelanotic macule Increased antibody level in blood Keratitis Lipodystrophy Hypercholesterolemia Hypertriglyceridemia Cerebral calcification Arthralgia Thrombocytopenia Narrow mouth Abnormality of the nervous system Erythroderma Fine hair Brittle hair Atresia of the external auditory canal Widely spaced teeth Sparse eyelashes Increased body weight Hoarse voice Hyperpigmentation of the skin Hypohidrosis Choanal atresia Split hand Small nail Cleft lip Ectodermal dysplasia Hypodontia Palmoplantar keratoderma Cleft upper lip Oral cleft Hypotrichosis Nail dystrophy Microtia Sparse hair Camptodactyly Hypoplasia of dental enamel Cardiac arrest Drooling Hyperreflexia Brachycephaly Severe short stature Midface retrusion Malar flattening Short nose Talipes equinovarus Abnormality of the skeletal system Frontal bossing Macrocephaly Delayed speech and language development Weight loss Cryptorchidism Micrognathia Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Prominent eyelashes Humoral immunodeficiency Short digit Pulmonary edema Narrow nose Abdominal pain Proptosis Hip contracture Abdominal distention Abnormality of the outer ear Joint dislocation Absence seizures Muscle stiffness Aspiration Rhizomelia Encephalocele Lumbar hyperlordosis Limb undergrowth Generalized myoclonic seizures Inability to walk Mandibular prognathia Nausea Talipes Poor speech Narrow chest Generalized tonic-clonic seizures Hyperlordosis Deeply set eye Skeletal dysplasia Macrotia Polyhydramnios Irregular vertebral endplates Long palpebral fissure Hypocalcemia Cutaneous finger syndactyly T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Hypothermia Amelogenesis imperfecta Protruding tongue Mixed hearing impairment Abnormal direction of ventricular apex Prolonged QT interval Multiple joint contractures Ventricular fibrillation Obsessive-compulsive behavior Patent foramen ovale Atrioventricular block Optic nerve hypoplasia Ventricular arrhythmia Cutaneous syndactyly Ventricular tachycardia Atrioventricular dissociation Hepatomegaly Partial agenesis of the corpus callosum Downturned corners of mouth Pleural effusion Eosinophilia Tachypnea Narrow palpebral fissure Finger clinodactyly Short toe Eczema Underdeveloped nasal alae Single transverse palmar crease Retinal dystrophy Tachycardia Intrauterine growth retardation Postnatal growth retardation Hypogonadism Agenesis of corpus callosum Clinodactyly of the 5th finger Clinodactyly Long philtrum Splenomegaly Intellectual disability, mild Edema Anteverted nares Recurrent enteroviral infections



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