Hypertension, and Abnormality of the metaphysis

Diseases related with Hypertension and Abnormality of the metaphysis

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

Top matches:

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Related symptoms:

  • Short stature
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 10; SCKL10

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

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.

HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA Is also known as hypophosphatemia, x-linked|hpdr|hhrh|hyp|xlh|hypophosphatemic vitamin d-resistant rickets|vitamin d-resistant rickets, x-linked

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA

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

Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

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

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Top 5 symptoms//phenotypes associated to Hypertension and Abnormality of the metaphysis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Skeletal dysplasia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Abnormality of the metaphysis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Metaphyseal widening Abnormality of the skeletal system Severe short stature Platyspondyly Hearing impairment Intellectual disability Short neck Narrow chest Apnea Malar flattening Midface retrusion Congestive heart failure Scoliosis Muscle weakness Osteoarthritis Flexion contracture Lumbar hyperlordosis Frontal bossing Delayed skeletal maturation Recurrent fractures Micromelia Arthralgia Depressed nasal bridge Ventricular hypertrophy Strabismus Respiratory distress Cataract Rhizomelia Osteoporosis Limb undergrowth Osteopenia Myopia Sleep apnea

Rare Symptoms - Less than 30% cases

Delayed speech and language development Bone pain Short femoral neck Flared metaphysis Coxa valga Sensorineural hearing impairment Anemia Lymphedema Generalized hirsutism Abnormality of the dentition Abnormality of epiphysis morphology Skeletal muscle atrophy Arthritis Umbilical hernia Macrocephaly Cervical myelopathy Abnormal lung morphology Abnormal form of the vertebral bodies Disproportionate short stature Coxa vara Flat face Genu valgum Pectus carinatum Hyperlordosis Genu varum Back pain Spondyloepiphyseal dysplasia Talipes equinovarus Abnormality of pelvic girdle bone morphology Hypertelorism Ovoid vertebral bodies Rigidity Spinal cord compression Spinal canal stenosis Tibial bowing Bowing of the legs Hip contracture Elevated alkaline phosphatase Myelopathy Neoplasm Short long bone Microcephaly Dilatation Small for gestational age Anteverted nares Abnormal facial shape Micrognathia Postnatal growth retardation Prominent forehead Cardiomegaly Cleft lip Respiratory tract infection Oral cleft Short ribs Full cheeks Global developmental delay Polydactyly Low-set ears Inguinal hernia Retinal detachment Glycosuria Acanthosis nigricans Brachydactyly Respiratory insufficiency Esodeviation Broad hallux phalanx Broad ribs Childhood onset short-limb short stature Central sleep apnea Thick upper lip vermilion Generalized hypertrichosis Short hallux Thoracolumbar kyphosis Thickened calvaria Brain stem compression Ptosis Widened posterior fossa Cervical cord compression Small foramen magnum Curly eyelashes Congenital, generalized hypertrichosis Cuboid-shaped vertebral bodies Broad first metatarsal Neonatal short-limb short stature Erlenmeyer flask deformity of the femurs Concentric hypertrophic cardiomyopathy Hypoplastic ischiopubic rami Iritis Chronic myelogenous leukemia Obstructive lung disease Congenital hypertrophy of left ventricle Hypopnea Deep plantar creases Bilateral coxa valga Large sella turcica Broad hallux Thin ribs Cardiomyopathy Hypertrophic cardiomyopathy Anxiety Coarse facial features Patent ductus arteriosus Recurrent infections Long philtrum Intellectual disability, mild Wide nasal bridge Finger syndactyly Epicanthus Decreased pulmonary function Spastic hemiparesis Exudative retinopathy Retinal telangiectasia Retinal exudate Metaphyseal sclerosis Intestinal bleeding Wide mouth Thick eyebrow Abnormal heart valve morphology Trident hand Limited hip extension Pericardial effusion Fever Large for gestational age Pyloric stenosis Prominent supraorbital ridges Bicuspid aortic valve Accelerated skeletal maturation Low anterior hairline Short distal phalanx of finger Gingival overgrowth Long eyelashes Hypertrichosis Thick lower lip vermilion Low posterior hairline Spinal stenosis with reduced interpedicular distance Myelitis Thick vermilion border Recurrent ear infections Multiple epiphyseal dysplasia Dysphagia Ventriculomegaly Conductive hearing impairment Neuroblastoma Gastroesophageal reflux Weight loss Abnormality of the elbow Obstructive sleep apnea Obesity Hydrocephalus Hyperreflexia Scarring Motor delay Anterior bowing of long bones Long eyelashes in irregular rows Abnormality of femoral epiphysis Smooth tongue Generalized muscle hypertrophy Shoulder flexion contracture Pursed lips Abnormality of the nervous system Leukemia Talipes valgus Otitis media Paraparesis Clonus Short toe Recurrent urinary tract infections Recurrent otitis media Tetraparesis Epidermal acanthosis Overgrowth Lymphoma Joint hyperflexibility Disproportionate short-limb short stature Tinnitus Epiphyseal dysplasia Chronic otitis media Sleep disturbance Bowel incontinence Confusion Limited elbow extension Myeloid leukemia Percussion myotonia Temperature instability Myopathy Blepharophimosis Abnormality of femur morphology Abnormal autonomic nervous system physiology Elbow flexion contracture Joint contracture of the hand Bowing of the long bones Decreased testicular size Microcornea Talipes Camptodactyly Central apnea Cor pulmonale Pes planus Kyphoscoliosis Proptosis Narrow mouth Hyperhidrosis Infantile muscular hypotonia Hypoxemia Hyporeflexia Congenital hip dislocation EMG abnormality Flexion contracture of toe Blepharospasm Spinal deformities Weak voice Wrist flexion contracture Esophageal varix Hypoplasia of the musculature Megalencephaly Coronal cleft vertebrae Constrictive median neuropathy Osteopetrosis Narrow palpebral fissure Malignant hyperthermia Generalized joint laxity Communicating hydrocephalus High pitched voice Skeletal muscle hypertrophy Upper airway obstruction Myotonia Overfolded helix Dysuria Morphological abnormality of the pyramidal tract Limited hip movement Oral leukoplakia Papule Multiple lipomas Hyperostosis Flat occiput Hemangioma Hoarse voice Subcutaneous nodule Nevus Palmoplantar keratoderma Craniosynostosis Cutaneous finger syndactyly Joint stiffness Myalgia Renal insufficiency Visual impairment Iliac crest serration Dysplastic sacrum Severe platyspondyly Squared iliac bones Scleroderma Atypical scarring of skin Metaphyseal cupping Abnormal axial skeleton morphology Metaphyseal irregularity Rickets Hypercalcemia Hypercalciuria Nephrocalcinosis Hypocalcemia Left ventricular hypertrophy Depressivity Complete duplication of the distal phalanges of the hand Generalized hypopigmentation Diffuse skin atrophy Connective tissue nevi Osteopoikilosis Abnormal bone structure Generalized limb muscle atrophy Abnormal aortic morphology Generalized osteosclerosis Abnormal cortical bone morphology Hypoplastic ischia Spondylometaphyseal dysplasia Femoral bowing Short iliac bones Glucose intolerance Cone-shaped epiphysis Aortic aneurysm Microretrognathia Hypertriglyceridemia Hepatic steatosis Diabetes mellitus Chronic tubulointerstitial nephritis Pes valgus Insulin-resistant diabetes mellitus Thoracic dysplasia Elevated serum creatinine Glomerulonephritis Renal hypoplasia Short foot Stage 5 chronic kidney disease Proteinuria Thin upper lip vermilion Slender long bone Skin tags Delayed epiphyseal ossification Round face Bell-shaped thorax Hypokinesia Deep philtrum Tachypnea Wormian bones Wide anterior fontanel Large fontanelles Pulmonary arterial hypertension Wide nose Elevated circulating follicle stimulating hormone level Microtia Muscular hypotonia of the trunk Short nose Elevated serum alanine aminotransferase Elevated serum aspartate aminotransferase Abdominal aortic aneurysm Acute pancreatitis Elevated circulating luteinizing hormone level Hypophosphatemia Hyperparathyroidism Calcinosis Optic atrophy Retinopathy Sparse hair Abnormality of the liver Mental deterioration Thrombocytopenia Dystonia Blindness Tremor Intrauterine growth retardation Nail dystrophy Dysarthria Spasticity Ataxia Seizures Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Abnormal pyramidal sign Abnormality of the cerebral white matter Retinoschisis Leukodystrophy Hematochezia Abnormality of the vasculature Pathologic fracture Portal hypertension Hemiplegia Increased susceptibility to fractures Leukoencephalopathy Bone marrow hypocellularity Telangiectasia Abnormality of movement Thin skin Hemiparesis Abnormality of extrapyramidal motor function Cerebral calcification Febrile seizures Nail dysplasia Gastrointestinal hemorrhage Cirrhosis Delayed pubic bone ossification Flattened epiphysis Osteomalacia Hypomineralization of enamel Muscular hypotonia Nystagmus Tertiary hyperparathyroidism Shortening of the talar neck Flattening of the talar dome Trapezoidal distal femoral condyles Pseudo-fractures Polyostotic fibrous dysplasia Fibular bowing Gait disturbance Hypocalciuria Renal phosphate wasting Hypophosphatemic rickets Tetany Elevated circulating parathyroid hormone level Hyperphosphatemia Renal tubular dysfunction Ankylosis Cleft palate Kyphosis Limited elbow movement High myopia Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Vestibular dysfunction Growth abnormality Waddling gait Hernia Limitation of joint mobility Pulmonary hypoplasia Retinal degeneration Paresthesia Hip dislocation Broad forehead Autoimmunity Glaucoma Lumbar kyphosis in infancy


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