High palate, and Hyperlordosis

Diseases related with High palate and Hyperlordosis

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

Top matches:

Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by Arnold et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16 Is also known as myasthenic syndrome, congenital, acetazolamide-responsive

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Cognitive impairment
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 16; CMS16

Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.

LANGER MESOMELIC DYSPLASIA Is also known as mesomelic dwarfism, langer type|mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type|dyschondrosteosis, homozygous

Related symptoms:

  • Micrognathia
  • High palate
  • Severe short stature
  • Micromelia
  • Lumbar hyperlordosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LANGER MESOMELIC DYSPLASIA

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT

Other less relevant matches:

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

High 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

High match CK SYNDROME

CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.

CK SYNDROME Is also known as x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome|mental retardation, x-linked, with thin body habitus and cortical malformation

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CK SYNDROME

Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about TYPICAL NEMALINE MYOPATHY

Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

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

Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010).See also transient infantile liver failure (LFIT ), which is a similar disorder.

MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY Is also known as mitochondrial myopathy with reversible complex iv deficiency|mitochondrial myopathy with reversible cox deficiency|cox deficiency myopathy, infantile, transient|benign cox deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain d

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY

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

Symptoms // Phenotype % cases
Lumbar hyperlordosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Pes planus

Uncommon Symptoms - Between 30% and 50% cases

Facial palsy Ptosis Waddling gait Muscle weakness Easy fatigability Micrognathia Respiratory insufficiency Elevated serum creatine phosphokinase Flexion contracture Frequent falls Knee flexion contracture Distal muscle weakness Ragged-red muscle fibers Joint laxity Proximal muscle weakness Long face Increased variability in muscle fiber diameter Gowers sign Difficulty climbing stairs Pectus excavatum Kyphosis Limb-girdle muscle weakness Narrow face Gait disturbance Generalized muscle weakness Fatigable weakness Feeding difficulties Difficulty running

Rare Symptoms - Less than 30% cases

Fatiguable weakness of proximal limb muscles Hypertonia Failure to thrive Abnormal facial shape Neck muscle weakness Myopathic facies Mitochondrial myopathy Respiratory insufficiency due to muscle weakness Microcephaly Pectus carinatum Global developmental delay Respiratory distress Hyperactivity Nemaline bodies Facial diplegia Epicanthus Arthrogryposis multiplex congenita Hyporeflexia Seizures Slender build Intellectual disability Retrognathia Narrow chest Aggressive behavior Type 1 muscle fiber predominance Poor head control Cognitive impairment Ophthalmoplegia Scapular winging Areflexia Pes cavus Paralysis Spasticity Dysphagia Hypertelorism Ataxia Short stature Shoulder girdle muscle atrophy Myokymia Distal lower limb muscle weakness Distal lower limb amyotrophy Thoracic kyphosis Apnea Centrally nucleated skeletal muscle fibers Decreased muscle mass Congenital muscular dystrophy Congestive heart failure EMG: myopathic abnormalities Micromelia Absent speech Muscle stiffness Progressive muscle weakness Open mouth Decreased fetal movement Sensory impairment Falls Muscular dystrophy External ophthalmoplegia Dyspnea Severe short stature Respiratory failure Behavioral abnormality Autism Constipation Macroglossia Pneumonia Hypothyroidism Acidosis Myalgia Lactic acidosis Hepatic failure Increased serum lactate Obsessive-compulsive behavior Severe lactic acidosis Decreased plasma carnitine Increased serum pyruvate Cytochrome C oxidase-negative muscle fibers Increased muscle lipid content Increased muscle glycogen content Hepatomegaly Self-injurious behavior Gait ataxia Attention deficit hyperactivity disorder Fatigable weakness of distal limb muscles Gastroesophageal reflux Anxiety Developmental regression Autistic behavior Wide mouth Short philtrum Stereotypy Thick vermilion border Abnormal cerebellum morphology Underdeveloped nasal alae Hypotelorism Short palpebral fissure Thick lower lip vermilion Postnatal microcephaly Muscular hypotonia Nocturnal hypoventilation Fatigable weakness of respiratory muscles Broad ulna Lower limb amyotrophy Central hypoventilation Pes valgus Sinus tachycardia Abnormality of muscle fibers Reduced systolic function Rudimentary fibula Thoracic scoliosis Shortening of the tibia Mesomelic/rhizomelic limb shortening Aplasia/Hypoplasia of the fibula Strabismus Mesomelic short stature Delayed speech and language development Aortic root aneurysm Generalized amyotrophy Madelung deformity Progressive proximal muscle weakness Muscle fiber tubular inclusions Increased jitter at single fibre EMG Favorable response of weakness to acetylcholine esterase inhibitors Generalized weakness of limb muscles Abnormal peripheral nervous system synaptic transmission Mildly elevated creatine phosphokinase Limb-girdle muscle atrophy Toe walking Muscle cramps Lower limb muscle weakness Difficulty walking Mitral valve prolapse Reduced tendon reflexes Nasal speech Abnormality of the carpal bones Malar flattening EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Foot dorsiflexor weakness Polyhydramnios Neonatal hypotonia Hip dislocation Hypoplasia of the radius Disproportionate short-limb short stature Genu valgum Genu varum Short neck Hypokinesia Spinal rigidity Abnormality of epiphysis morphology Bowing of the long bones Neck flexor weakness Axial muscle weakness Hypoplasia of the ulna Short femoral neck Posteriorly rotated ears Joint hypermobility Upslanted palpebral fissure Abnormality of the ulna Radial bowing Ulnar deviation of finger Irritability Prominent nasal bridge Polymicrogyria Almond-shaped palpebral fissure Sleep disturbance Pachygyria Dental crowding Broad palm Abnormality of digit Abnormal cortical bone morphology Mesomelia Muscle fiber hypertrophy


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