High palate, and Joint laxity

Diseases related with High palate and Joint laxity

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

Top matches:

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT

Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by Cossins et al., 2013).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14 Is also known as cmsta3|myasthenic syndrome, congenital, with tubular aggregates 3

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Other less relevant matches:

Congenital myasthenic syndrome-19 is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19

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

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Top 5 symptoms//phenotypes associated to High palate and Joint laxity

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Pes planus Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Motor delay Delayed speech and language development Feeding difficulties Respiratory insufficiency Hypertelorism Disproportionate tall stature Muscle weakness Gastroesophageal reflux Hyperlordosis Posteriorly rotated ears Low-set ears Micrognathia Upslanted palpebral fissure Abnormal facial shape Seizures Poor head control Long face Ptosis Myopathy Facial palsy Lumbar hyperlordosis Gait ataxia

Rare Symptoms - Less than 30% cases

Tricuspid valve prolapse Short stature Hyperactivity Triangular face Delayed ability to walk Mandibular prognathia Abnormal cerebellum morphology Pes cavus Short philtrum Absent speech Dyspnea Ataxia Aggressive behavior Pectus carinatum Aortic regurgitation Spinal rigidity Centrally nucleated skeletal muscle fibers Spasticity Talipes equinovarus Pectus excavatum Postnatal microcephaly Unsteady gait Arachnodactyly High, narrow palate Mitral valve prolapse Mitral regurgitation Pain Microcephaly Knee flexion contracture Proximal muscle weakness Downslanted palpebral fissures Long philtrum Mildly elevated creatine phosphokinase Areflexia Failure to thrive Distal muscle weakness Waddling gait Fatigable weakness Limb-girdle muscle weakness Gowers sign Constipation Difficulty walking Thin upper lip vermilion Scapular winging Ragged-red muscle fibers Elevated serum creatine phosphokinase Attention deficit hyperactivity disorder Wide mouth Autistic behavior Thick vermilion border Underdeveloped nasal alae Hypotelorism Short palpebral fissure Thick lower lip vermilion Stereotypy Self-injurious behavior Obsessive-compulsive behavior Cognitive impairment Myopia Macrocephaly Frontal bossing Developmental regression Abnormal cardiac septum morphology Anxiety Follicular hyperkeratosis Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Congenital contracture Congenital muscular dystrophy Increased variability in muscle fiber diameter Multiple joint contractures Weak cry Neck muscle weakness Overweight Generalized joint laxity Autism Pes valgus Minicore myopathy Gastrostomy tube feeding in infancy Abnormal elasticity of skin Epicanthus Gait disturbance Hypertonia Behavioral abnormality Hydrocephalus Ventriculomegaly Cerebellar hypoplasia Cerebellar atrophy Abnormality of the cardiovascular system Congestive heart failure Hypertrophic cardiomyopathy Intellectual disability, moderate Broad forehead Pulmonic stenosis Tachycardia Small hand Chest pain Convex nasal ridge Limb undergrowth Atrial fibrillation Cardiomyopathy Dental crowding Abnormal heart valve morphology Striae distensae Thromboembolism Supraventricular tachycardia Endocarditis Asthenia Mastoiditis Bacterial endocarditis Quadricuspid aortic valve Atrial septal defect Growth delay Kyphosis High myopia Malar flattening Dry skin Prominent forehead Cerebral cortical atrophy Proptosis Macrotia High forehead Kyphoscoliosis Prominent nasal bridge Overgrowth Tall stature Severe expressive language delay Sparse eyebrow Large hands Long fingers Megalencephaly Long foot Communicating hydrocephalus Slender build Metopic synostosis Expressive language delay Long neck Thick corpus callosum Severe muscular hypotonia Muscle cramps Delayed puberty Abnormality of the kidney Recurrent lower respiratory tract infections Chronic lung disease Hypertension Ophthalmoplegia Renal insufficiency Syndactyly Headache Dilatation Polydactyly Stroke Progressive proximal muscle weakness Abnormal peripheral nervous system synaptic transmission Stage 5 chronic kidney disease Hematuria Generalized weakness of limb muscles Renal cyst Favorable response of weakness to acetylcholine esterase inhibitors Increased jitter at single fibre EMG Recurrent urinary tract infections Nephrolithiasis Hepatic fibrosis Mitochondrial myopathy Bulbar palsy Chronic kidney disease Onion bulb formation Poor speech Smooth philtrum Distal sensory impairment Wide nose Sensory impairment Broad-based gait Decreased nerve conduction velocity Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Abnormal heart morphology Exercise intolerance Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Peripheral neuropathy Strabismus Retrognathia Rigidity Limb-girdle muscle atrophy Generalized muscle weakness Abnormal lung morphology Muscle fiber tubular inclusions Polycystic kidney dysplasia Limb muscle weakness Prominent nose Dolichocephaly Synophrys Talipes Frequent falls Bulbous nose Thick eyebrow Highly arched eyebrow Tapered finger Brain atrophy Hypsarrhythmia EEG abnormality Long eyelashes Progressive microcephaly Decreased muscle mass Cryptorchidism Abnormality of the foot Recurrent respiratory infections Respiratory failure Hyperkeratosis Neonatal hypotonia Muscular dystrophy Muscular hypotonia of the trunk Easy fatigability Cholelithiasis Congenital hepatic fibrosis Portal hypertension Aortic aneurysm Tricuspid regurgitation Cerebral hemorrhage EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Dilatation of the cerebral artery Subarachnoid hemorrhage Enlarged kidney Cholangitis Pancreatic cysts Babinski sign Hepatic cysts Chronic pain Type 1 muscle fiber predominance Colonic diverticula Abdominal aortic aneurysm Cerebral berry aneurysm Difficulty running Difficulty climbing stairs Hyperreflexia Hypoplasia of the corpus callosum Reversed usual vertebral column curves


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