High palate, and Dilatation

Diseases related with High palate and Dilatation

In the following list you will find some of the most common rare diseases related to High palate and Dilatation that can help you solving undiagnosed cases.

Top matches:

AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 Is also known as aortic aneurysm, thoracic, with or without aortic dissection

Related symptoms:

  • High palate
  • Hypertension
  • Dilatation
  • Pectus excavatum
  • Stroke


SOURCES: OMIM MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9

AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10 Is also known as aortic aneurysm, thoracic, with or without aortic dissection

Related symptoms:

  • Scoliosis
  • High palate
  • Myopia
  • Dilatation
  • Hernia


SOURCES: OMIM MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 10; AAT10

Medium match CAP MYOPATHY

Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

Other less relevant matches:

PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney DiseaseAlso see polycystic kidney disease-2 (PKD2 ), caused by mutation in the PKD2 gene (OMIM ) on chromosome 4q22; PKD3 (OMIM ), caused by mutation in the GANAB gene (OMIM ) on chromosome 11q13; PKD4 (OMIM ), caused by mutation in the PKHD1 gene (OMIM ) on chromosome 6p12; PKD5 (OMIM ), caused by mutation in the DZIP1L gene (OMIM ) on chromosome 3q22; and PKD6 (OMIM ), caused by mutation in the DNAJB11 gene (OMIM ) on chromosome 3q27.

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Is also known as apkd1|adpkd|polycystic kidney disease, adult|polycystic kidney disease, adult, type i|potter type iii polycystic kidney disease, formerly

Related symptoms:

  • Scoliosis
  • Pain
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Hypertension
  • Dilatation
  • Patent ductus arteriosus


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 4; NEM4

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Dilatation

Symptoms // Phenotype % cases
Aortic aneurysm Common - Between 50% and 80% cases
Pectus excavatum Common - Between 50% and 80% cases
Aortic root aneurysm Common - Between 50% and 80% cases
Arachnodactyly Common - Between 50% and 80% cases
Mitral valve prolapse Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Dilatation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pes planus Thoracic aortic aneurysm Abdominal aortic aneurysm Dural ectasia Scoliosis Generalized hypotonia Hypertelorism Hypertension Dilatation of the cerebral artery Joint laxity Subarachnoid hemorrhage Aortic regurgitation Arterial tortuosity High, narrow palate Abnormality of the sternum Disproportionate tall stature Mitral regurgitation Bicuspid aortic valve Inguinal hernia Hernia Bruising susceptibility Aortic dissection Stroke

Rare Symptoms - Less than 30% cases

Increased variability in muscle fiber diameter Flexion contracture Pes valgus Pain Headache Microcephaly Micrognathia Unsteady gait Tall stature Soft skin Dysarthria Respiratory insufficiency Retrognathia Neonatal hypotonia Patent ductus arteriosus Hypertonia Difficulty running Central hypoventilation Gowers sign Myopia Muscle weakness Motor delay Myopathy Facial palsy Striae distensae Coronary artery atherosclerosis Lower limb muscle weakness Emphysema Oligohydramnios Abnormal facial shape Failure to thrive Downslanted palpebral fissures Joint hypermobility Cutis laxa Prominent forehead Left ventricular hypertrophy Atrial fibrillation Ventricular hypertrophy Proptosis Nasal speech Tetraparesis Acidosis Thin upper lip vermilion Muscular hypotonia of the trunk Severe global developmental delay Coma Spastic tetraplegia Increased serum lactate Abnormality of eye movement Metabolic acidosis Spastic paraplegia Hemolytic anemia Lactic acidosis Agenesis of corpus callosum Hypoplasia of the corpus callosum High myopia Relative macrocephaly Scaphocephaly Severe intrauterine growth retardation Ectopia lentis Narrow nose Progeroid facial appearance Broad-based gait Lipodystrophy Entropion Hyperextensibility of the finger joints Narrow palm Prominent scalp veins Intellectual disability Increased body weight Seizures Global developmental delay Ataxia Anemia Epicanthus Optic atrophy Ventriculomegaly Respiratory distress Reduced subcutaneous adipose tissue Vomiting Dystonia Cerebral atrophy Progressive neurologic deterioration Recurrent fractures Trigonocephaly Camptodactyly Biventricular hypertrophy Intussusception Multiple joint dislocation Prominence of the premaxilla Pulmonary artery aneurysm Generalized arterial tortuosity Pulmonary artery dilatation Cleft palate Abnormality of the skeletal system Atrial septal defect Osteoporosis Umbilical hernia Pulmonic stenosis Pulmonary insufficiency Migraine Dental malocclusion Osteoarthritis Back pain Slender finger Abnormal joint morphology Spondylolisthesis Low back pain Osteochondritis Dissecans Hip osteoarthritis Protrusio acetabuli Intervertebral disc degeneration Uterine prolapse Narrow naris Arterial stenosis Spastic diplegia Poor gross motor coordination Partial agenesis of the corpus callosum Lipoma Poor coordination Corpus callosum atrophy Severe lactic acidosis Poor fine motor coordination Increased serum pyruvate Hyperalaninemia Decreased activity of the pyruvate dehydrogenase complex Periventricular cysts Subependymal cysts Projectile vomiting Low-set ears Abnormality of the vasculature Depressed nasal bridge Long philtrum Abnormality of the pinna Scarring Bulbous nose Arthrogryposis multiplex congenita Convex nasal ridge Overgrowth Congenital diaphragmatic hernia Bradycardia Spina bifida Joint dislocation Narrow palpebral fissure Premature birth Generalized muscle weakness Prominent nasal bridge Cholangitis Renal cyst Recurrent urinary tract infections Nephrolithiasis Hepatic fibrosis Chronic kidney disease Polycystic kidney dysplasia Cholelithiasis Portal hypertension Tricuspid regurgitation Cerebral hemorrhage Enlarged kidney Congenital hepatic fibrosis Stage 5 chronic kidney disease Pancreatic cysts Hepatic cysts Chronic pain Tricuspid valve prolapse Colonic diverticula Cerebral berry aneurysm Chest pain Cardiomegaly Ischemic stroke Cutis marmorata Exertional dyspnea Hematuria Abnormality of the kidney Transient ischemic attack Easy fatigability Pectus carinatum Paroxysmal atrial fibrillation Dental crowding Ascending tubular aorta aneurysm Aortic arch aneurysm Cystic medial necrosis Long face Lumbar hyperlordosis Frequent falls Reduced tendon reflexes Poor head control Toe walking Polydactyly Generalized amyotrophy Difficulty climbing stairs Thoracic scoliosis Lower limb amyotrophy Sinus tachycardia Abnormality of muscle fibers Reduced systolic function Fatiguable weakness of proximal limb muscles Talipes equinovarus Renal insufficiency Syndactyly Hemoptysis Peripheral arterial stenosis Craniosynostosis Facial diplegia Progressive muscle weakness Narrow face Elbow flexion contracture Scapular winging Ragged-red muscle fibers Infantile muscular hypotonia Congenital contracture Myopathic facies Restrictive ventilatory defect Neck muscle weakness Hypoventilation Nemaline bodies Waddling gait Trismus Type 1 muscle fiber predominance Neck flexor weakness Reduced vital capacity Nocturnal hypoventilation Generalized limb muscle atrophy Growth delay Intrauterine growth retardation Macrocephaly Hydrocephalus Gastroesophageal reflux Abnormal lung morphology Limb muscle weakness Left ventricular failure Muscular hypotonia Pneumothorax Hypovolemia Ascending aortic dissection Prenatal maternal abnormality Abnormality of connective tissue Carotid artery dilatation Descending thoracic aorta aneurysm Abnormality iris morphology Descending aortic dissection Paroxysmal dyspnea Cystic medial necrosis of the aorta Ptosis Distal muscle weakness Feeding difficulties Skeletal muscle atrophy Gait disturbance Kyphosis Hyporeflexia Pneumonia Kyphoscoliosis Difficulty walking Proximal muscle weakness Feeding difficulties in infancy Hyperlordosis Knee osteoarthritis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Metabolic acidosis, related diseases and genetic alterations Delayed speech and language development and Recurrent urinary tract infections, related diseases and genetic alterations Skeletal muscle atrophy and Hepatomegaly, related diseases and genetic alterations