Hypertension, and Short metacarpal

Diseases related with Hypertension and Short metacarpal

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

Top matches:

Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.

BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME Is also known as bilginturan syndrome|brachydactyly type e, with short stature and hypertension|brachydactyly with hypertension|brachydactyly, type e, with short stature and hypertension|bilginturan brachydactyly

Related symptoms:

  • Short stature
  • Hypertension
  • Brachydactyly
  • Retinopathy
  • Stroke


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of AcrodysostosisSee also ACRDYS2 (OMIM ), caused by mutation in the PDE4D gene (OMIM ) on chromosome 5q12.

ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 Is also known as adohr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1

Other less relevant matches:

Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

Low match CODAS SYNDROME

Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.

CODAS SYNDROME Is also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebrooculodentoauriculoskeletal syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CODAS SYNDROME

Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH ). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, {188540}) and gonadotropins. PHP Ia is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Mantovani and Spada, 2006).In contrast, pseudopseudohypoparathyroidism (PPHP ) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006).PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections.

PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A Is also known as albright hereditary osteodystrophy with multiple hormone resistance|php ia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

Low match C SYNDROME

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.

ENDOSTEAL HYPEROSTOSIS, WORTH TYPE Is also known as ostÉosclÉrose autosomique dominante type worth|osteosclerosis, autosomal dominant|autosomal dominant osteosclerosis, worth type|hyperostosis corticalis generalisata, benign form of worth, with torus palatinus|worth syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Sensorineural hearing impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about ENDOSTEAL HYPEROSTOSIS, WORTH TYPE

Top 5 symptoms//phenotypes associated to Hypertension and Short metacarpal

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertension and Short metacarpal. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Cataract Anteverted nares Abnormality of the skeletal system Epicanthus Hearing impairment Short phalanx of finger Delayed eruption of teeth Nystagmus Mandibular prognathia Scoliosis Sensorineural hearing impairment Low-set ears Hydrocephalus Short metatarsal Microcephaly Proptosis Obesity Short nose Global developmental delay Abnormality of pelvic girdle bone morphology Intrauterine growth retardation Hypoplasia of dental enamel Micrognathia Growth delay Short 4th metacarpal Cone-shaped epiphysis Hypospadias Short chin Short neck Constrictive median neuropathy Polyhydramnios Seizures Elevated circulating parathyroid hormone level Generalized hypotonia Ventricular septal defect Muscular hypotonia Hip dislocation Delayed speech and language development Syndactyly Irritability Hypothyroidism Increased bone mineral density Abnormal facial shape Round face Short finger Increased intracranial pressure

Rare Symptoms - Less than 30% cases

Laryngeal dystonia Pseudohypoparathyroidism Spinal cord compression Hypocalcemic seizures Short fifth metatarsal Band keratopathy Abdominal symptom Prolactin deficiency Broad 1st metacarpal Myoclonic spasms Hyperphosphatemia Ectopic ossification Hyperostosis frontalis interna Hypocalcemic tetany Short 3rd metacarpal Osteoma cutis Broad distal phalanx of the thumb Abnormal platelet function Choroid plexus calcification Short 5th metacarpal Low urinary cyclic AMP response to PTH administration Calcinosis Elevated calcitonin Pituitary resistance to thyroid hormone Short toe Ventriculomegaly Clitoral hypertrophy Cleft lip Toe syndactyly Oral cleft Thin vermilion border Postaxial polydactyly Tetralogy of Fallot Medulloblastoma Upslanted palpebral fissure Abnormality of the neck Macrocephaly Microphthalmia Facial palsy Sparse hair Hypotrichosis Short ribs Polydactyly Agenesis of corpus callosum Hypoplasia of the corpus callosum Abnormality of the dentition Atrial septal defect Delayed skeletal maturation Abnormality of the pinna Short philtrum Abnormal form of the vertebral bodies Omphalocele Abnormality of dental morphology Basal ganglia calcification Abnormal heart morphology Failure to thrive Cleft palate High palate Motor delay Hepatomegaly Wide nasal bridge Pectus excavatum Oligomenorrhea Abnormality of the ribs Thickened calvaria Brachycephaly Skeletal dysplasia Midface retrusion Clinodactyly of the 5th finger Cone-shaped epiphyses of the phalanges of the hand Blue irides Dislocated radial head Fair hair Hypodontia Nevus Polyphagia Melanocytic nevus Pain Small hand Hypogonadism Hypoplasia of the maxilla Dental malocclusion Spinal canal stenosis Mild short stature Depressivity Cerebral calcification Prolonged QT interval Reduced bone mineral density Conjunctivitis Hypocalcemia Accelerated skeletal maturation Hypergonadotropic hypogonadism Congenital hypothyroidism Choreoathetosis Growth hormone deficiency Hyporeflexia Full cheeks Chest pain Muscle cramps Paresthesia Confusion Anxiety Dyspnea Irregular ossification of hand bones Hamartomatous stomach polyps Feeding difficulties Cardiac rhabdomyoma Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Flat forehead Respiratory distress Generalized osteosclerosis Cardiomyopathy Hypertrophic cardiomyopathy Microtia Abnormal cranial nerve morphology Osteopetrosis Abnormal cortical bone morphology Abnormal cardiac septum morphology Craniofacial hyperostosis Protruding ear Postnatal growth retardation Palmar pits Edema Thin upper lip vermilion Macrotia High forehead Nasal obstruction Narrow mouth Micropenis Diaphyseal thickening Cerebellar hypoplasia Orbital cyst Ectopic calcification Short distal phalanx of the thumb Neoplasm of the skin Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Disproportionate tall stature Inflammation of the large intestine Nephritis Glomerulonephritis Relative macrocephaly Torus palatinus Vertebral fusion Clavicular sclerosis Spina bifida occulta Hemivertebrae Sclerotic vertebral body Hypogonadotrophic hypogonadism Muscle stiffness Metacarpal diaphyseal endosteal sclerosis Spina bifida Bradycardia Hyperpigmentation of the skin Increased head circumference Colitis Severe hydrocephalus Supernumerary ribs Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Thickened cortex of long bones Hamartomatous polyposis Cervical ribs Astrocytoma Abnormality of the sternum Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Thoracic scoliosis Severe global developmental delay Elevated alkaline phosphatase Dolichocephaly Aplasia of the distal phalanges of the hand Renovascular hypertension Hypoplasia of the frontal lobes Multiple skeletal anomalies Exotropia Generalized neonatal hypotonia Short upper lip Increased nuchal translucency Wide cranial sutures Aplasia/hypoplasia of the 1st metatarsal Aplasia/Hypoplasia of the distal phalanges of the hand Arrhinencephaly Congenital microcephaly Aplastic clavicle Small earlobe Bilateral microphthalmos Premature loss of primary teeth Absent nipple Aplasia/Hypoplasia of the nipples Redundant neck skin Renal artery stenosis Aplasia/Hypoplasia of the proximal phalanx of the hallux Aplasia of the distal phalanx of the hallux Short proximal phalanx of hallux Abnormality of the scapula Generalized hypotrichosis Broad secondary alveolar ridge Absent sternal ossification Bilateral external ear deformity Aplasia/Hypoplasia of the hallux Slender long bones with narrow diaphyses Aplasia of the 1st metacarpal Shortening of all distal phalanges of the toes Abnormal pelvis bone morphology Aplasia/Hypoplasia of the nails Tapered toe Abnormal parietal bone morphology Gingival recession Abnormality of the occipital bone Abnormality of dental structure Aplasia/Hypoplasia of the scapulae Narrow nasal base Aplasia/Hypoplasia of the clavicles Hypoplastic facial bones Decreased skull ossification Hypoplastic scapulae High, narrow palate Cerebellar vermis hypoplasia Sparse and thin eyebrow Short thumb Cranial nerve paralysis Hydrops fetalis Large fontanelles Pachygyria Growth abnormality Sparse scalp hair Small nail Pulmonary arterial hypertension Tented upper lip vermilion Cardiomegaly Hyperostosis Neuronal loss in central nervous system Osteomyelitis Dandy-Walker malformation Premature birth Hypopigmentation of the skin Tapered finger Single transverse palmar crease Sparse eyelashes Abnormality of the urinary system Hypoplastic labia majora Severe hearing impairment Abnormality of finger Sclerocornea Severe failure to thrive Glossoptosis Inverted nipples Short clavicles Aplasia/Hypoplasia of the thumb Abnormality of blood and blood-forming tissues Thin ribs Abnormality of digit Pyloric stenosis Absent thumb Aplasia/Hypoplasia of the eyebrow Anonychia Flared metaphysis Metatarsus adductus Short middle phalanx of finger Rocker bottom foot Absent eyebrow Sparse eyebrow Aplasia/Hypoplasia of the middle phalanges of the hand Hirsutism Hemiparesis Drooling Hydroureter Spondyloepiphyseal dysplasia Proximal placement of thumb Overfolded helix Epiphyseal dysplasia Bilateral ptosis CNS hypomyelination Short long bone Abnormality of dental enamel Metaphyseal dysplasia Congenital hip dislocation Abnormality of epiphysis morphology Microdontia Hip dysplasia Generalized muscle weakness Flat face Anal atresia Joint hyperflexibility Genu valgum Atrioventricular canal defect Short humerus Hypermetropia Midline defect of the nose Laryngeal obstruction Extrahepatic biliary duct atresia Crumpled ear Broad skull Hypoplastic helices Squared iliac bones Hemiatrophy Lumbar scoliosis Vocal cord paresis Prominent metopic ridge Pes valgus Delayed ossification of carpal bones Thin eyebrow Coronal cleft vertebrae Complete atrioventricular canal defect Abnormality of the larynx Rectovaginal fistula Delayed epiphyseal ossification Hypoplasia of the odontoid process Congenital cataract Broad forehead Cognitive impairment Underdeveloped nasal alae Kyphosis Optic atrophy Chronic rhinitis Red hair Rhinitis Type I diabetes mellitus Osteoarthritis Eczema Asthma Small for gestational age Joint stiffness Autism Hyperactivity Diabetes mellitus Malar flattening Hypertensive retinopathy Proportionate short stature Stroke Retinopathy Severe short stature Short palm Intellectual disability, moderate Thyroid hypoplasia Conductive hearing impairment Pneumonia Ptosis Autoimmune antibody positivity Involuntary movements Neonatal epiphyseal stippling Mild postnatal growth retardation Narrow vertebral interpedicular distance Calvarial hyperostosis Hypoplastic vertebral bodies Broad nasal tip Long hallux Menstrual irregularities Epiphyseal stippling Broad palm Mixed hearing impairment Dextrocardia Disproportionate short-limb short stature Open mouth Otitis media Absent epiphyses Diarrhea Hypotension Female pseudohermaphroditism Fused sternal ossification centers Thick anterior alveolar ridges Midline facial capillary hemangioma Right-to-left shunt Hypoplasia of the ear cartilage Renal cortical cysts Conotruncal defect Pseudohypoaldosteronism Metopic synostosis Neoplasm Abnormality of the anus Accessory oral frenulum Broad alveolar ridges Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the helix Abnormal hair pattern Postaxial foot polydactyly Anal stenosis Ulnar deviation of finger Ataxia Spasticity Biparietal narrowing Proteinuria Palmoplantar keratoderma Iris coloboma Cleft upper lip Arachnodactyly Carious teeth Papule Coloboma Telecanthus Carcinoma Dysarthria EEG abnormality Coarse facial features Retrognathia Kyphoscoliosis Glaucoma Abdominal pain Visual loss Frontal bossing Downslanted palpebral fissures Abnormality of immune system physiology Multiple joint contractures Osteoporosis Congestive heart failure Low-set, posteriorly rotated ears Neonatal hypotonia Posteriorly rotated ears Constipation Patent ductus arteriosus Clinodactyly Abnormality of cardiovascular system morphology Long philtrum Intellectual disability, severe Craniosynostosis Talipes equinovarus Flexion contracture Subcutaneous calcification Shortening of all distal phalanges of the fingers Parathyroid hyperplasia Tetany Exocrine pancreatic insufficiency Subcutaneous nodule Hypoglycemia Wide mouth Talipes Radial deviation of finger Multicystic kidney dysplasia Trigonocephaly Hand polydactyly Failure to thrive in infancy Redundant skin Renal hypoplasia/aplasia Sacral dimple Aplasia/Hypoplasia of the corpus callosum Cutis laxa Joint dislocation Horseshoe kidney Smooth philtrum Bilateral single transverse palmar creases Gingival overgrowth Abnormality of the genital system Intellectual disability, profound Congenital diaphragmatic hernia Postaxial hand polydactyly Limb undergrowth Limitation of joint mobility Micromelia Metatarsal diaphyseal endosteal sclerosis


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