Hypertension, and Camptodactyly of finger

Diseases related with Hypertension and Camptodactyly of finger

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


Top matches:

Low match BLAU SYNDROME; BLAUS


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

Low match MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY


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

Low match SCALP-EAR-NIPPLE SYNDROME


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

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Other less relevant matches:

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

Low match ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


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

Low match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


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

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

Low match HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD


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

Low match STUVE-WIEDEMANN SYNDROME


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

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Top 5 symptoms//phenotypes associated to Hypertension and Camptodactyly 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
Low-set ears Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hypertension and Camptodactyly of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Wide nasal bridge Growth delay Triangular face Cataract Generalized hypotonia Telecanthus High palate Intellectual disability Adducted thumb Talipes equinovarus Short neck Retinopathy Anteverted nares Intrauterine growth retardation Interphalangeal joint contracture of finger Congenital contracture Ulnar deviation of the hand Pulmonary arterial hypertension Clinodactyly Respiratory failure Hearing impairment Scoliosis Short stature Fever Arthritis

Rare Symptoms - Less than 30% cases


Joint swelling Abnormality of the dentition Myopia Epicanthus Depressed nasal bridge Glaucoma Failure to thrive Anemia Hyperhidrosis Bulbous nose Abnormal cranial nerve morphology Visual loss Posteriorly rotated ears Patent ductus arteriosus Skin rash Seizures Abnormal autonomic nervous system physiology Mandibular prognathia Short nose Small hand Enlarged joints Short palpebral fissure Cupped ear Peripheral neuropathy Mask-like facies Abnormality of the fingernails Bilateral talipes equinovarus Short columella Ulnar deviation of finger Abnormality of the kidney Hypermetropia Abnormality of the skeletal system Dry skin Arthrogryposis multiplex congenita Joint stiffness Nasal speech Deeply set eye Blepharophimosis Protruding ear Microcephaly Prominent nasal bridge Papule Inguinal hernia Gait disturbance Rheumatoid arthritis Small for gestational age Muscular hypotonia Short philtrum Wide mouth Hypospadias Large vessel vasculitis Iridocyclitis Thin upper lip vermilion Posterior uveitis Intellectual disability, moderate Talipes Flexion contracture of toe Decreased fetal movement Umbilical hernia Synovitis Juvenile rheumatoid arthritis Pulmonary hypoplasia Renal insufficiency Narrow face Kyphoscoliosis Hypotelorism Nephropathy Stage 5 chronic kidney disease Hypoplasia of the maxilla Corneal opacity Joint contracture of the hand Limitation of joint mobility Strabismus Polyhydramnios Skin ulcer Atrial septal defect Cryptorchidism Congestive heart failure Arthralgia Respiratory insufficiency Downturned corners of mouth Myotonia Sensorimotor neuropathy Short phalanx of finger Hoarse voice Bowing of the long bones Tibial bowing Abnormality of dental enamel Elbow flexion contracture Paraparesis Knee flexion contracture Aminoaciduria Spastic paraparesis Hypokinesia Opacification of the corneal stroma Femoral bowing Flared metaphysis Cubitus valgus Pathologic fracture Thin ribs Metaphyseal widening Patent foramen ovale Aganglionic megacolon Thin skin Ankylosis Micropenis Ventricular septal defect Short umbilical cord Abnormality of the diaphragm Thoracic kyphoscoliosis Preeclampsia Cardiorespiratory arrest Pterygium Tapered finger Myopathy Hypertelorism Abnormal pulmonary valve morphology Gastroparesis Hyperalaninemia 3-Methylglutaconic aciduria Moderate global developmental delay Tachycardia Status epilepticus Limb undergrowth Recurrent infections Recurrent fractures Single transverse palmar crease Hepatic failure Apnea Skeletal dysplasia Osteoporosis Midface retrusion Malar flattening Episodic fever Respiratory distress Dysphagia Frontal bossing Feeding difficulties Pain Contractures of the interphalangeal joint of the thumb Hyperconvex nail Agitation Impaired pain sensation Dysarthria Short tibia Generalized hirsutism Celiac disease High pitched voice Preauricular pit Impulsivity Clubbing Language impairment Trigonocephaly Abnormality of the voice Abnormality of the hand Nephrocalcinosis Finger clinodactyly Short thumb Short clavicles Long eyelashes Broad thumb Recurrent otitis media Low posterior hairline Apraxia Coarctation of aorta Hypoplasia of penis Microdontia Otitis media Underdeveloped nasal alae Dental malocclusion Proportionate short stature Sprengel anomaly Broad nasal tip Expressive language delay Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Curved fingers Enlarged naris Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Short upper lip Lipoma Spinal dysraphism Stiff neck Tethered cord Broad columella Hyperextensibility of the finger joints Speech apraxia 11 pairs of ribs Villous atrophy Enuresis Short attention span Abnormality of the clavicle Cone-shaped epiphyses of the phalanges of the hand Prominent nose Hirsutism Megaloblastic anemia Increased upper to lower segment ratio Hyperreflexia Delayed speech and language development Cognitive impairment Neoplasm Metaphyseal rarefaction Pulmonary arterial medial hypertrophy Blotching pigmentation of the skin Abnormal metaphyseal trabeculation Absent patellar reflexes Broad ischia Shivering Smooth tongue Brachydactyly Hypoplastic iliac body Contracture of the proximal interphalangeal joint of the 5th finger 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 Wide nasal base Flat occiput Vomiting Thin vermilion border Hydronephrosis Smooth philtrum Joint hyperflexibility Poor speech Malabsorption Neurological speech impairment Craniosynostosis Postnatal growth retardation Feeding difficulties in infancy Joint laxity Aggressive behavior Anxiety Conductive hearing impairment Intellectual disability, mild Gastroesophageal reflux Hypothyroidism Hyperactivity Upslanted palpebral fissure Constipation Babinski sign Clinodactyly of the 5th finger Delayed skeletal maturation Abnormal heart morphology Abnormality of cardiovascular system morphology Dilatation Headache Abnormal aortic valve morphology Round ear Encephalitis Abnormality of the skin Narrow palpebral fissure Type I diabetes mellitus Abnormality of the nail Abnormality of the hair Hypohidrosis Recurrent urinary tract infections Fine hair Renal hypoplasia Renal agenesis Nail dysplasia Abnormality of the urinary system Vesicoureteral reflux Delayed eruption of teeth Iris coloboma Congenital cataract Nail dystrophy Finger syndactyly Microtia Coloboma Sparse hair Cutaneous syndactyly Abnormality of the thorax Syndactyly Ureteral duplication 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Hypoplastic helices Bilateral renal hypoplasia Breast aplasia Small earlobe Aplasia cutis congenita of scalp Pyelonephritis Absent nipple 2-3 toe syndactyly Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Eyelid coloboma Abnormality of the antihelix Palpebral edema Hypoplastic nipples Aplasia cutis congenita Narrow nasal bridge Multiple lipomas Agenesis of permanent teeth Abnormality of the pinna Osteolysis involving tarsal bones Abnormality of the scalp Abnormality of the ear Anterior uveitis Band keratopathy Granulomatosis Abducens palsy Cystoid macular edema Macular edema Uveitis Optic neuropathy Abnormal joint morphology Increased antibody level in blood Panuveitis Hypercalcemia Vasculitis Subcutaneous nodule Inflammatory abnormality of the skin Eczema Autoimmunity Blindness Edema Visual impairment Iritis Tendonitis Wrist swelling Slender long bone Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Doll-like facies Ankle swelling Hypertensive retinopathy Azotemia Ulnar deviation of the hand or of fingers of the hand Abnormality of the wrist Elevated alkaline phosphatase Intermittent generalized erythematous papular rash Cachexia Osteolysis EMG abnormality Abnormality of epiphysis morphology Pulmonic stenosis Proteinuria Osteopenia Proptosis Pes cavus Nongranulomatous uveitis Underdeveloped antitragus Duplication of renal pelvis Hyperammonemia Duane anomaly Firm muscles Decreased facial expression Amyoplasia Limited wrist extension Absent phalangeal crease Congenital finger flexion contractures Keratoglobus Decreased palmar creases Ulnar deviation of the wrist Unilateral ptosis Internally rotated shoulders Retinal fold Tapetoretinal degeneration Abnormality of the rib cage Overlapping fingers Hypoventilation Distal arthrogryposis Aplasia/Hypoplasia of the radius Keratoconus Abnormality of the sternum Exophoria Ataxia Abnormality of the hip bone Lactic acidosis Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Microretrognathia Intention tremor Oligohydramnios Aciduria Increased serum lactate Premature birth Flat face Hypertrophic cardiomyopathy Hepatomegaly Neonatal hypotonia Retrognathia Acidosis Cerebral cortical atrophy Arrhythmia Encephalopathy Long philtrum Cerebellar atrophy Cardiomyopathy Tremor Tarsal synostosis Vertebral segmentation defect Splenomegaly Xerostomia Abnormal inflammatory response Retrobulbar optic neuritis Clear cell renal cell carcinoma Polyarticular arthritis Abnormal choroid morphology Abnormal salivary gland morphology Erythema nodosum Abnormality of the retinal vasculature Abnormality of the optic nerve Pericarditis Cleft palate Keratitis Aortic aneurysm Hyperpigmentation of the skin Ichthyosis Lymphadenopathy Abnormality of the liver Erythema Facial palsy Photophobia Dyspnea Sensorineural hearing impairment Ptosis Long fingers Wide intermamillary distance Restrictive ventilatory defect Macular dystrophy Decreased muscle mass Bilateral ptosis Abnormal electroretinogram Bilateral single transverse palmar creases Abnormality of retinal pigmentation Abnormal lung morphology Lumbar hyperlordosis Webbed neck Pectus excavatum Abnormality of skin pigmentation Arachnodactyly Astigmatism Abnormality of the foot Abnormality of eye movement Ophthalmoplegia Hyperlordosis Narrow mouth Alopecia Areflexia Mesocardia



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