Hypertension, and Interphalangeal joint contracture of finger

Diseases related with Hypertension and Interphalangeal joint contracture of finger

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

Top matches:

Related symptoms:

  • Flexion contracture
  • Hypertension
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: MESH OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD

Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

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:

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Low match BLAU SYNDROME

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004).See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1 ), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (OMIM ) on chromosome 1p36.

STUVE-WIEDEMANN SYNDROME Is also known as sws|schwartz-jampel syndrome, type 2|stws|stuve-wiedemann/schwartz-jampel type 2 syndrome|schwartz-jampel syndrome, neonatal|sjs2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about STUVE-WIEDEMANN SYNDROME

Top 5 symptoms//phenotypes associated to Hypertension and Interphalangeal joint contracture of finger

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Camptodactyly Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Interphalangeal joint contracture of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Camptodactyly of finger Anteverted nares Low-set ears Abnormal facial shape Generalized hypotonia Global developmental delay Ulnar deviation of the hand Pulmonary arterial hypertension Scoliosis Triangular face Wide nasal bridge Retinopathy Peripheral neuropathy Adducted thumb Talipes equinovarus Failure to thrive Congenital contracture Respiratory failure Growth delay Polyhydramnios

Rare Symptoms - Less than 30% cases

Bilateral talipes equinovarus Respiratory insufficiency Myopia Epicanthus Depressed nasal bridge Myopathy Umbilical hernia Narrow face Muscular hypotonia Intrauterine growth retardation Hypotelorism Hyperhidrosis Limitation of joint mobility Mask-like facies Nephropathy Talipes Pulmonary hypoplasia Stage 5 chronic kidney disease Corneal opacity Decreased fetal movement Telecanthus Dysphagia Abnormality of the kidney Ophthalmoplegia Cleft palate Ulnar deviation of finger Arthrogryposis multiplex congenita Microcephaly Joint stiffness Clinodactyly Congestive heart failure Short neck Arthralgia High palate Pain Protruding ear Short stature Cryptorchidism Abnormality of the liver Visual loss Anemia Recurrent urinary tract infections Vesicoureteral reflux Joint contracture of the hand Blepharophimosis Dry skin Arachnodactyly Cupped ear Juvenile rheumatoid arthritis Skin ulcer Prominent nasal bridge Hearing impairment Joint swelling Rheumatoid arthritis Flexion contracture of toe Papule Large vessel vasculitis Short nose Synovitis Patent ductus arteriosus Iridocyclitis Posterior uveitis Glaucoma Abnormal autonomic nervous system physiology Skin rash Aganglionic megacolon Renal insufficiency Arthritis Intellectual disability Abnormal cranial nerve morphology Gastrointestinal obstruction Megacystis Ataxia Tachycardia Neuroma Seizures Urethral obstruction Megaduodenum Barrett esophagus Hypoperistalsis Cardiomyopathy Hepatomegaly Retrognathia Premature birth Flat face Lactic acidosis Small for gestational age Short philtrum Wide mouth Intellectual disability, moderate Hypertrophic cardiomyopathy Neonatal hypotonia Acidosis Micropenis Cerebral cortical atrophy Inguinal hernia Arrhythmia Encephalopathy Hypospadias Long philtrum Cerebellar atrophy Posteriorly rotated ears Tremor Prune belly Abdominal situs inversus Microcolon Abdominal pain Round face Abdominal distention Narrow chest Broad forehead Low-set, posteriorly rotated ears Hydronephrosis Bulbous nose Weight loss Pneumonia Overgrowth Constipation Abnormality of cardiovascular system morphology Dilatation Diarrhea Vomiting Tapered finger Status epilepticus Skeletal muscle atrophy Intestinal malrotation Horseshoe kidney Pollakisuria Episodic abdominal pain Urinary retention Intestinal pseudo-obstruction Aciduria Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Volvulus Achalasia Chronic constipation Hyperparathyroidism Pancreatitis Disproportionate tall stature Hydroureter Anonychia Malnutrition Intestinal obstruction Portal hypertension Hypoalbuminemia External ophthalmoplegia Increased serum lactate Osteopenia Oligohydramnios Myotonia Episodic fever Impaired pain sensation Thin ribs Pathologic fracture Hypokinesia Tibial bowing Femoral bowing Flared metaphysis Cubitus valgus Megaloblastic anemia Metaphyseal widening Patent foramen ovale Nasal speech Opacification of the corneal stroma Spastic paraparesis Abnormality of dental enamel Aminoaciduria Knee flexion contracture Paraparesis Short tibia Enlarged joints Hoarse voice Hypoplastic iliac body Pulmonary arterial medial hypertrophy Blotching pigmentation of the skin Abnormal metaphyseal trabeculation Absent patellar reflexes Broad ischia Shivering Increased upper to lower segment ratio Smooth tongue Contracture of the proximal interphalangeal joint of the 5th finger Wide nasal base Elevated pulmonary artery pressure Pursed lips Mitochondrial respiratory chain defects Square face Multiple skeletal anomalies Talipes valgus Thickened cortex of long bones Broad long bones Temperature instability Elbow flexion contracture Sensorimotor neuropathy Intention tremor Gastroparesis Ankylosis Pterygium Ventricular septal defect Atrial septal defect Thin upper lip vermilion Kyphoscoliosis Hypertelorism Abnormal pulmonary valve morphology Hyperalaninemia Preeclampsia 3-Methylglutaconic aciduria Moderate global developmental delay Abnormal aortic valve morphology Flat occiput Internally rotated shoulders Hyperammonemia Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Microretrognathia Cardiorespiratory arrest Thoracic kyphoscoliosis Short phalanx of finger Apnea Bowing of the long bones Thin skin Short palpebral fissure Limb undergrowth Recurrent fractures Single transverse palmar crease Small hand Hepatic failure Skeletal dysplasia Abnormality of the diaphragm Osteoporosis Midface retrusion Recurrent infections Malar flattening Respiratory distress Abnormality of the skeletal system Frontal bossing Feeding difficulties Short umbilical cord Encephalitis Keratoglobus Exophoria Abnormality of the hair 2-3 toe syndactyly Abnormality of the thorax Abnormality of the urinary system Cutaneous syndactyly Abnormality of the fingernails Narrow palpebral fissure Type I diabetes mellitus Abnormality of the nail Hypohidrosis Multiple lipomas Uveitis Fine hair Renal hypoplasia Renal agenesis Abnormality of the skin Nail dysplasia Delayed eruption of teeth Iris coloboma Agenesis of permanent teeth Narrow nasal bridge Nail dystrophy Pyelonephritis 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Hypoplastic helices Bilateral renal hypoplasia Breast aplasia Small earlobe Aplasia cutis congenita of scalp Ureteral duplication Aplasia cutis congenita Absent nipple Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Eyelid coloboma Abnormality of the antihelix Short columella Palpebral edema Hypoplastic nipples Congenital cataract Finger syndactyly Abnormality of the scalp Panuveitis Ulnar deviation of the hand or of fingers of the hand Abnormality of the wrist Slender long bone Elevated alkaline phosphatase Cachexia Osteolysis EMG abnormality Abnormality of epiphysis morphology Tendonitis Hypertensive retinopathy Intermittent generalized erythematous papular rash Nongranulomatous uveitis Hypoplasia of the maxilla Downturned corners of mouth Gait disturbance Pulmonic stenosis Pes cavus Proptosis Azotemia Ankle swelling Microtia Abducens palsy Coloboma Macular edema Sparse hair Abnormality of the pinna Mandibular prognathia Cystoid macular edema Syndactyly Abnormality of the dentition Granulomatosis Doll-like facies Band keratopathy Anterior uveitis Iritis Osteolysis involving tarsal bones Wrist swelling Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Underdeveloped antitragus Duplication of renal pelvis Firm muscles Bilateral ptosis Abnormality of the hip bone Vertebral segmentation defect Long fingers Restrictive ventilatory defect Macular dystrophy Decreased muscle mass Hyperconvex nail Contractures of the interphalangeal joint of the thumb Abnormal electroretinogram Abnormality of the sternum Visual impairment Bilateral single transverse palmar creases Edema Blindness Abnormality of retinal pigmentation Abnormal lung morphology Lumbar hyperlordosis Wide intermamillary distance Tarsal synostosis Keratoconus Abnormality of skin pigmentation Ulnar deviation of the wrist Decreased facial expression Amyoplasia Limited wrist extension Absent phalangeal crease Congenital finger flexion contractures Round ear Proteinuria Decreased palmar creases Duane anomaly Agitation Unilateral ptosis Retinal fold Tapetoretinal degeneration Abnormality of the rib cage Overlapping fingers Hypoventilation Distal arthrogryposis Aplasia/Hypoplasia of the radius Webbed neck Astigmatism Optic neuropathy Increased antibody level in blood Erythema nodosum Abnormality of the retinal vasculature Abnormality of the optic nerve Xerostomia Pericarditis Keratitis Aortic aneurysm Hyperpigmentation of the skin Ichthyosis Abnormal choroid morphology Lymphadenopathy Abnormality of the ear Erythema Facial palsy Photophobia Dyspnea Abnormal joint morphology Splenomegaly Abnormal salivary gland morphology Polyarticular arthritis Abnormality of the foot Pectus excavatum Abnormality of eye movement Hypermetropia Autoimmunity Hyperlordosis Deeply set eye Narrow mouth Alopecia Areflexia Eczema Clear cell renal cell carcinoma Inflammatory abnormality of the skin Subcutaneous nodule Ptosis Vasculitis Sensorineural hearing impairment Strabismus Hypercalcemia Abnormal inflammatory response Retrobulbar optic neuritis Metaphyseal rarefaction


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Eczema, related diseases and genetic alterations Abnormality of the skeletal system and Nail dystrophy, related diseases and genetic alterations Low-set ears and Narrow forehead, related diseases and genetic alterations Obesity and Hirsutism, related diseases and genetic alterations