Hypertension, and Skeletal dysplasia

Diseases related with Hypertension and Skeletal dysplasia

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

Top matches:

Low match MELORHEOSTOSIS

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

  • Failure to thrive
  • Pain
  • Flexion contracture
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

NAIL-PATELLA SYNDROME Is also known as turner-kieser syndrome|onychoosteodysplasia

Related symptoms:

  • Hearing impairment
  • Cataract
  • Hypertension
  • Renal insufficiency
  • Glaucoma


SOURCES: ORPHANET MENDELIAN

More info about NAIL-PATELLA SYNDROME

Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

Other less relevant matches:

Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF 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

Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

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

Top 5 symptoms//phenotypes associated to Hypertension and Skeletal dysplasia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short neck Anteverted nares Depressed nasal bridge Growth delay Generalized hypotonia Global developmental delay Hypertelorism Platyspondyly Abnormality of the skeletal system Joint stiffness Cataract Umbilical hernia Dilatation Osteoarthritis Accelerated skeletal maturation Low-set ears Narrow chest Cryptorchidism Delayed speech and language development Epicanthus Strabismus Nevus Osteoporosis Severe short stature Skeletal muscle atrophy Arthralgia Malar flattening Lymphedema Flexion contracture Hypospadias Arthritis Hypothyroidism Congestive heart failure Short nose Delayed skeletal maturation Abnormality of the metaphysis Recurrent fractures Respiratory distress

Rare Symptoms - Less than 30% cases

Lumbar hyperlordosis Generalized hirsutism Increased intracranial pressure Cone-shaped epiphysis Coxa vara Sleep apnea Wormian bones Constrictive median neuropathy Cardiomegaly Limb undergrowth Round face Flat face Hernia Coxa valga Obesity Short phalanx of finger Cone-shaped epiphyses of the phalanges of the hand Blue irides Short metacarpal Fair hair Hypoplasia of the maxilla Small hand Mandibular prognathia Scoliosis Sensorineural hearing impairment Hip dislocation Brachydactyly Short metatarsal Muscle weakness Myopia Talipes equinovarus Kyphosis Apnea Metaphyseal widening Abnormality of epiphysis morphology Pectus carinatum Mild short stature Small for gestational age Micromelia Full cheeks Ptosis Inguinal hernia Joint hyperflexibility Glaucoma Renal insufficiency Osteopoikilosis Atypical scarring of skin Ovoid vertebral bodies Joint swelling Scleroderma Hyperostosis Growth abnormality Hemangioma Bone pain Abnormal facial shape Microcephaly Prominent forehead Spinal canal stenosis Progressive sensorineural hearing impairment Osteopenia Long eyelashes Thickened calvaria Coarse facial features Anxiety Ventricular hypertrophy Ileus Bladder diverticulum Cor pulmonale Atelectasis Thin ribs Premature skin wrinkling Pulmonary artery stenosis Short hallux Thick vermilion border Short distal phalanx of finger Thick eyebrow Shawl scrotum Hypertrophic cardiomyopathy Wide mouth Prematurely aged appearance Thick upper lip vermilion Delayed cranial suture closure Emphysema Epiphyseal dysplasia Arterial stenosis Low posterior hairline Gingival overgrowth Elevated alkaline phosphatase Low anterior hairline Hypertrichosis Recurrent infections Long philtrum Intellectual disability, mild Bicuspid aortic valve Prominent supraorbital ridges Cardiomyopathy Pyloric stenosis Macrocephaly Wide nasal bridge Renal diverticulum Bowel diverticulosis Ascending tubular aorta aneurysm Arterial fibromuscular dysplasia Large for gestational age Supravalvular aortic stenosis Flared metaphysis Congenital hemolytic anemia Finger syndactyly Patent ductus arteriosus Thick lower lip vermilion Vascular tortuosity Broad hallux Dermal translucency Pericardial effusion Abnormal heart valve morphology Failure to thrive Congenital hypertrophy of left ventricle Broad ribs Generalized muscle hypertrophy Brachycephaly Hypogonadism Hydrocephalus Optic atrophy Anterior bowing of long bones Long eyelashes in irregular rows Abnormality of femoral epiphysis Smooth tongue Shoulder flexion contracture Delayed eruption of teeth Pursed lips Percussion myotonia Talipes valgus Temperature instability Flexion contracture of toe Spinal deformities Weak voice Wrist flexion contracture Short palm Hypodontia Coronal cleft vertebrae Epiphyseal stippling Mild postnatal growth retardation Narrow vertebral interpedicular distance Calvarial hyperostosis Thyroid hypoplasia Hypoplastic vertebral bodies Long hallux Menstrual irregularities Elevated circulating parathyroid hormone level Dislocated radial head Broad nasal tip Broad palm Short finger Mixed hearing impairment Dextrocardia Melanocytic nevus Disproportionate short-limb short stature Open mouth Otitis media Dental malocclusion Hypoplasia of the musculature Blepharospasm Broad hallux phalanx Broad first metatarsal Hyporeflexia Myopathy Dysphagia Fever Micrognathia Widened posterior fossa Redundant skin Hypoplastic ischiopubic rami Cuboid-shaped vertebral bodies Narrow mouth Bilateral coxa valga Congenital, generalized hypertrichosis Erlenmeyer flask deformity of the femurs Concentric hypertrophic cardiomyopathy Curly eyelashes Large sella turcica Deep plantar creases Generalized hypertrichosis Esodeviation Hyperhidrosis Proptosis Malignant hyperthermia Abnormal autonomic nervous system physiology Hip contracture High pitched voice Skeletal muscle hypertrophy Myotonia Overfolded helix Narrow palpebral fissure EMG abnormality Congenital hip dislocation Elbow flexion contracture Kyphoscoliosis Joint contracture of the hand Bowing of the long bones Decreased testicular size Microcornea Talipes Blepharophimosis Camptodactyly Rigidity Pes planus Aortic aneurysm Rhizomelia Shock Tachypnea Spondylometaphyseal dysplasia Delayed epiphyseal ossification Bell-shaped thorax Hypokinesia Deep philtrum Short long bone Short ribs Hypoplastic ischia Wide anterior fontanel Large fontanelles Pulmonary arterial hypertension Wide nose Microtia Postnatal growth retardation Muscular hypotonia of the trunk Metaphyseal cupping Squared iliac bones Frontal bossing Subcutaneous nodule Abnormal cortical bone morphology Generalized hypopigmentation Cutaneous finger syndactyly Multiple lipomas Flat occiput Hoarse voice Palmoplantar keratoderma Severe platyspondyly Papule Craniosynostosis Myalgia Abnormality of the dentition Visual impairment Iliac crest serration Dysplastic sacrum Respiratory insufficiency Thickening of the lateral border of the scapula Abnormal aortic morphology Prominent superficial veins Proteinuria Ectopic ossification in muscle tissue Subcutaneous calcification Peripheral arteriovenous fistula Upper limb asymmetry Chronic pain Lack of skin elasticity Nephropathy Lower limb asymmetry Abnormality of the vasculature Dermal atrophy Cranial nerve paralysis Increased bone mineral density Abnormality of the foot Edema Hematuria Nephrotic syndrome Iliac horns Abnormal toenail morphology Aplastic/hypoplastic toenail Aplasia/Hypoplasia of the patella Concave nail Ridged nail Abnormality of the upper limb Abnormality of the lower limb Abnormality of the elbow Vasculitis Patellar dislocation Exostoses Glomerulopathy Hypoplastic toenails Cubitus valgus Abnormality of the fingernails Joint dislocation Generalized osteosclerosis Generalized limb muscle atrophy Cutis laxa Myelopathy Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Barrel-shaped chest Neonatal short-trunk short stature Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Restrictive ventilatory defect Short thorax Vestibular dysfunction Bowing of the legs Sciatica Limitation of knee mobility Back pain Vesicoureteral reflux Abnormality of the face Recurrent urinary tract infections Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Oligohydramnios Overgrowth Hemolytic anemia Delayed calcaneal ossification Arachnodactyly Pulmonic stenosis Joint laxity Recurrent respiratory infections Arrhythmia Pectus excavatum Anemia Spondyloepiphyseal dysplasia Genu varum Abnormal bone structure Autism Rhinitis Congenital hypothyroidism Type I diabetes mellitus Eczema Underdeveloped nasal alae Asthma Hyperactivity Chronic rhinitis Diabetes mellitus Clinodactyly of the 5th finger Intrauterine growth retardation Abnormal axial skeleton morphology Complete duplication of the distal phalanges of the hand Diffuse skin atrophy Connective tissue nevi Red hair Nystagmus Abnormal form of the vertebral bodies Paresthesia Abnormal lung morphology High myopia Waddling gait Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Retinal degeneration Genu valgum Muscular hypotonia Broad forehead Autoimmunity Respiratory tract infection Hyperlordosis Polydactyly Gait disturbance Cleft palate Neonatal epiphyseal stippling


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Pes cavus, related diseases and genetic alterations Congestive heart failure and Arthritis, related diseases and genetic alterations Fever and Lymphopenia, related diseases and genetic alterations Cryptorchidism and Myopathy, related diseases and genetic alterations